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Inflation Reduction Act of 2022 & Amyloidosis

 

What does the Inflation Reduction Act of 2022 mean for the rare disease community and Amyloidosis patients?

 

Those of us in the amyloidosis patient community hear repeatedly that the key to better outcomes is early diagnosis and treatment. Much progress continues to be made in raising awareness in the medical community about these rare diseases. The goal is to help physicians consider and test for the diseases but there remains more to be done.  For many reasons, inconsistent and widely varied multi system symptoms, misdiagnosis based on symptoms that mimic more typical conditions, lack of familiarity with the disease and more, amyloidosis remains widely underdiagnosed. Speaker Bureaus with patients telling their stories to medical students and residents, patient support groups that invite physicians to explain their experience in diagnosing amyloidosis, and a variety of medical education opportunities continue to help raise awareness. Once a patient does receive a correct diagnosis and is referred for treatment another journey begins. The currently available and most effective therapies are almost uniformly far too costly for patients to bear. Copay assistance programs from pharmaceutical companies provide much needed help but many Medicare patients are forced to “compete” for grant monies and in some cases still have exorbitant out of pocket copays. Additionally, it is often a lengthy and difficult process to obtain insurance approval for coverage of these costly medications with prescribers and patients spending much time, years in some cases, working through the denials and appeals and still not always receiving approval.

Unlike twenty years ago there are now several good FDA-approved treatment options for amyloidosis in the U.S. These slow the progression of the debilitating symptoms of the diseases, but none cure or reverse the damage already done. Considerable research and development continues in a search for more effective treatments with the goal of finding a cure, but the search is costly and time consuming.

Until the early 1980s pharmaceutical companies had no financial incentive to spend the enormous amounts of money required to develop a new drug to treat the small populations of patients with a rare disease, defined as “affecting fewer than 200,000 US citizens.”1 The market for the resulting drugs would not be large enough to make it financially feasible. The Orphan Drug Act (ODA) of 19832 was created to help with exactly this sort of situation. Prior to its adoption, “only ten products for the treatment of rare disease were approved for use in the U.S.”1 This is a stunning fact when one considers that according to the Genetic and Rare diseases Information Center of the National Institutes of Health, known rare diseases now number more than six to ten thousand and afflict more than thirty million people.3

“In the early 1980s, families, advocates, and leaders of several rare disease patient organizations formed an ad hoc coalition to focus attention on this problem. That coalition was instrumental in passage of the Orphan Drug Act, a landmark bill that created financial incentives for the development of treatments for rare diseases…In 1983, that coalition became the National Organization for Rare Disorders, or NORD…” 4

Pressure from this coalition, the medical community, and the public resulted in the passage of the Orphan Drug Act of 1983 (ODA).

“…Since the passage of the Orphan Drug Act of 1983, the US Food and Drug Administration (FDA) has approved more than 500 orphan products and rare disease therapies, and orphan drugs currently make up more than 50% of new drug approvals at FDA.” 4

The Act was also intended to address what was perceived by many in the medical community as a lag of available and appropriately effective therapies in the US compared with the rest of the world. This was usually attributed to the tightening of drug safety laws required by the Kefauver-Harris Bill of 1962 which amended the Food, Drug, and Cosmetic Act enacted after the horrible events with thalidomide in years just prior. This amendment required “…all drugs to be proven safe and effective by adequate well-controlled studies before being approved for the U.S. market. While this improved public protection from potentially dangerous pharmaceuticals, it also dramatically increased the costs associated with drug development. Consequently, pharmaceutical companies began to focus on developing treatments for common diseases with large potential markets in order to maximize the possibility of recouping research and development costs and generating significant revenues.1

The ODA with its provisions for seven-year market exclusivity for orphan drugs, generous tax credits, drug development grants, expanded access to approved orphan drugs, and FDA fee reductions  was intended to correct the unintended consequences of the Kefauver-Harris Bill and did result in a dramatic increase in new medications for rare diseases. The ODA was widely hailed as a great success5 but an unintended consequence of the incentives was its contribution to the escalating price of prescriptions.

By the late 1980s the concern for the rare diseases had shifted from the need for incentives to develop them to the unprecedented profits pharmaceutical companies were making from these orphan drugs and the ever escalating prices and the inability of patients to afford them. An excellent history of the changing landscape and legislation around treatments for rare diseases can be found in the National Institutes of Health National Library of Medicine’s Orphans in the Market: the History of Orphan Drug Policy.6

In response to public outcry, the Inflation Reduction Act of 2022 (IRA) which, among its many other provisions, included new laws to address prescription costs especially for elder Americans with Medicare coverage. The law, Public Law No: 117-169, was a response to the Comprehensive Plan for Addressing High Drug Prices: A Report to the Executive Order on Competition in the American Economy dated September 9, 2021.7  The text of the act can be read in Section B – Prescription Drug Pricing Reform which discusses how price lowering is intended to occur. One provision of the law allows Health and Human Services to negotiate with pharmaceutical companies the “maximum fair price” for a limited list of the most commonly used drugs for patients with Medicare coverage. For a detailed review of the provisions of this law as it relates to Medicare drug coverage please see Explaining the Prescription Drug Provisions in the Inflation Reduction Act, January 24, 2023 8  or Fact Sheet: Medicare Prescription Drug Inflation Rebate Program Part B Rebatable Drug Coinsurance Reduction, March 2023.9 Transition to the new policies are beginning now and will continue to roll out over the next few years. Initial reaction to the law has been positive but with more understanding about how the law works some of this enthusiasm has shifted to concern about the unintended consequences especially for the rare disease community.

A law to help reduce the cost of drugs should be a cause for celebration and much of the IRA appears to offer just that, but in recent months several opinion pieces and responses to the legislation have suggested unintended negative consequences. A balanced consideration from the National Organization of Rare Disorders (NORD) looks at the pros and cons of the IRA10 and a letter to then Majority Leader Schumer August 5, 2022 from the Everyday Foundation for Rare Diseases, another respected non-profit advocacy group for the rare disease community, strongly advocates for a reconsideration of the language in the act limiting the exclusions of rare disease drugs to “…those for only one disease and one approved indication…” 11  In March of this year an article from the Council for Affordable Health Coverage entitled How the Inflation Reduction Act is Impacting Rare Disease Patients12 published a blog that explored the impact of the IRA with a focus on these consequences. Of particular interest is the focus on research and development. The law has already been cited by Alnylam and Eli Lilly as the reasons for stopping research on certain secondary uses for specific drugs. As recently as March and July of 2023, two lawsuits have been initiated to challenge provisions of the IRA, one by Merck and the other by the U.S. Chamber of Commerce. Each argues that the price negotiating processes outlined in the law will work to “jeopardize medical breakthroughs for individuals with life-threatening and chronic illnesses.”13

Another interesting exploration of the potential downsides of the current law, Inflation Reduction Act’s Unintended consequences, can be found in recent postings from PhRMA.Org, a trade group which lobbies on behalf of the U.S. pharmaceutical industry14. While the perspective is from that of the industry, the arguments made are reflected in both recent lawsuits and in the stopping of research and development for secondary applications of drugs previously approved for single disease treatment. Consider information about Alnylam’s decision to curtail a planned phase 3 study of the drug Amvuttra, currently FDA approved for the treatment of hATTR-PN hereditary amyloidosis polyneuropathy, that was also showing potential for use in the treatment of Stargardt, a rare eye disease.15

Alnylam attributed the pause to Biden’s Inflation Reduction Act, which allows Medicare to directly negotiate prices of some high-expenditure drugs. Drugs with one single orphan drug designation is exempt from potential price negotiations, a term that may discourage companies from exploring approvals in additional indications, Alnylam CEO Yvonne Greenstreet noted on the call. Because Amvuttra and Onpattro already has an orphan status in ATTR, an additional orphan label could theoretically open it for potential pricing scrutiny. 16,17

 

SUMMARY

As awareness about amyloidosis continues to increase and more and more patients are properly diagnosed and hoping to begin therapy to help mitigate the disabling and too often fatal progress of the diseases, it is important to consider both the financial burden to the patient and the availability of new and better drugs to treat or even cure the disease. Despite the well-intended goal of lowering prescription drug costs generally and allowing drug prices for Medicare recipients to be negotiated, there remains much to unravel about the effects of the new Inflation Reduction Act. It will likely save many people money but there is concern, especially regarding the medications for the treatment of rare diseases such as amyloidosis, and about what appears to be a disincentive to pharmaceutical companies to engage in costly research and development to treat these rare diseases. The challenge to diagnosis and providing effective, affordable treatment to amyloidosis patients continues.

 

 

 

CITATIONS

1https://www.researchgate.net/publication/7239721_Orphan_drug_policies_implications_for_the_U nited_States_Canada_and_developing_countries, Cheung, Cohen & Illingworth download

2https://www.govinfo.gov/content/pkg/STATUTE-96/pdf/STATUTE-96-Pg2049.pdf

3https://rarediseases.info.nih.gov/

4https://rarediseases.org/about-us/history/

5https://oig.hhs.gov/oei/reports/oei-09-00-00380.pdf

 6https://pubmed.ncbi.nlm.nih.gov/31384102/

7https://www.congress.gov/117/plaws/publ169/PLAW-117publ169.pdf

8https://www.kff.org/medicare/issue-brief/explaining-the-prescription-drug-provisions-in-the-inflation-reduction-act/

9https://www.cms.gov/files/document/fact-sheet-part-b-rebatable-drug-coinsurance-reduction.pdf

10 https://rarediseases.org/driving-policy/public-policy-positions/inflation-reduction-act-ira-nord-point-of-view/

11https://everylifefoundation.org/wp-content/uploads/2022/08/EveryLife-Foundation-Letter_IRA-Senate-Finance-SCHUMER.pdf

12 https://www.cahc.net/newsroom/2023/3/1/how-the-inflation-reduction-act-is-impacting-rare-disease-patients

13https://www.advisory.com/daily-briefing/2023/06/14/ira-lawsuits

14https://phrma.org/inflation-reduction-act

15https://www.biospace.com/article/alnylam-decides-against-phase-iii-trial-for-stargardt-disease-candidate/

16https://www.fiercepharma.com/pharma/amvuttra-makes-inroads-attr-alnylam-scraps-heart-disease-trial-interim-analysis-rethinks

Note: Fierce Pharma is a news publication of happenings in the Pharmaceutical industry

17https://rapport.bio/all-stories/alnylam-is-doing-what-the-ira-is-telling-it-to-do

 

 

ADDITIONAL READING

ORPHAN DRUGS AND RARE DISEASES

https://www.accessdata.fda.gov/scripts/cdrh/cfdocs/cfcfr/CFRSearch.cfm?fr=316.20https://www.fda.gov/patients/rare-diseases-fda

https://premierconsulting.com/resources/blog/fda-designations-for-rare-disease-products-part-2-orphan-drug-designation/

INFLATION REDUCTION ACT

https://www.cms.gov/files/document/fact-sheet-part-b-rebatable-drug-coinsurance-reduction.pdf

https://rarediseases.org/take-action-by-april-14-rare-disease-patients-and-families-tell-cms-to-implement-the-inflation-reduction-act-in-a-way-that-works-for-our-community/

Int’l Symposium on Amyloidosis (ISA) – Heidelberg 2022

We are super proud to have presented the story about the Amyloidosis Speakers Bureau at last week’s International Symposium on Amyloidosis (ISA) in Heidelberg, Germany. 
 
Ours was not the typical presentation at such a prestigious global medical conference, but our message “PATIENTS ARE POWERFUL EDUCATORS” was seemingly super well received. Afterwards we heard words such as “transformative” and “brilliant” … opening minds about the impact that patients can bring to raise awareness. Hopefully, there will be good actions to come from this! Meanwhile, we press on to educate U.S. medical students and residents.

THE PANEL INCLUDED (Thank you to Alexion Pharmaceuticals for sponsoring our panel):
– Professor JULIAN GILLMORE and Professor ASHUTOSH WECHALEKAR from the National Amyloidosis Centre, UCL – University College of London, UK
– Professor GIOVANNI PALLADINI, Director of the Amyloidosis Research and Treatment Center at the University Hospital San Matteo in Pavia, Italy
– DR. VAISHALI SANCHORAWALA, Director of Amyloidosis Center at Boston University
– DR. RODNEY FALK, Director of the Cardiac Amyloidosis Program at Brigham and Women’s Hospital (BWH)
– DEBORAH BOEDICKER, Board Member at Mackenzie’s Mission and Operating Committee Member of the Amyloidosis Speakers Bureau
– KRISTEN HSU, Executive Director of Clinical Research at the Amyloidosis Research Consortium

We are proud of the work we collectively do at the ASB and the impact we are making. Now into our fourth academic year, we have given over 200 presentations to more than 9,600 medical students and residents!
Our speakers, and their willingness to share their authentic story, are the cornerstone of this powerful educational initiative. 
With endless appreciation for your support and engagement,
Deb Boedicker

Hereditary Amyloidosis Among Portuguese Americans

According to Alnylam Pharmaceuticals, “Americans of Portuguese descent are disproportionately impacted by hereditary ATTR (hATTR) amyloidosis, a rare, rapidly progressive, and debilitating disease affecting multiple organs and tissues. These individuals have a high prevalence of the V30M variant, which is the most common of the more than 120 gene variants known to be associated with hATTR amyloidosis. The V30M variant is associated with nerve symptoms of numbness, tingling, and burning pain in hands and feet. People of Portuguese descent who develop the disease experience earlier onset symptoms, with 87 percent experiencing symptoms before age 40.

 

Watch this informative news segment featuring Dr. Anthony Geraci, a neurologist who specializes in managing hATTR amyloidosis. He is joined by Julio, who was diagnosed with the disease a few years ago, and his daughter and caregiver Renee. Together they explore the experience of living with this rare, genetic disease.”

The good news is there are FDA-approved treatments and clinical trials which may be helpful; however, the key is to get diagnosed as early as possible. 

Fruit & Veggie Food Safety

Too lazy to wash your fruits and veggies? Here are a few statistics that may inspire you. The Centers for Disease Control and Prevention says about 48 million people are stricken with foodborne illness each year; 128,000 are hospitalized. Approximately 3,000 people die.

For patients with impaired or compromised immune systems, such as those going through chemo/stem cell transplant, practicing good food safety goes a long way.

CRISPR/Cas9 – Editing the Code of Life

AN UPDATE  …..  WOO HOO!!!

Well, the results of the preclinical studies were presented on June 26, 2021 and it is fantastic news for hereditary ATTR amyloidosis patients!!!

Preclinical studies showed durable knockout of TTR after a single dose. Serial assessments of safety during the first 28 days after infusion in patients revealed few adverse events, and those that did occur were mild in grade. Dose-dependent pharmacodynamic effects were observed. At day 28, the mean reduction from baseline in serum TTR protein concentration was 52% (range, 47 to 56) in the group that received a dose of 0.1 mg per kilogram and was 87% (range, 80 to 96) in the group that received a dose of 0.3 mg per kilogram.

CONCLUSIONS
In a small group of patients with hereditary ATTR amyloidosis with polyneuropathy, administration of NTLA-2001 was associated with only mild adverse events and led to decreases in serum TTR protein concentrations through targeted knockout of TTR. (Funded by Intellia Therapeutics and Regeneron Pharmaceuticals; ClinicalTrials.gov number, NCT04601051. opens in new tab.)

The New England Journal of Medicine
https://www.nejm.org/doi/full/10.1056/NEJMoa2107454

Our original blog post ….

 

The scientific world is abuzz … a Nobel Prize-winning technology called CRISPR/Cas9 can now edit our DNA. This programmable gene-editing technology, which is efficient, precise, and scalable, has inspired a gold rush of countless applications in medicine, agriculture and basic science. Early areas of focus include genetic diseases such as sickle cell and hereditary ATTR amyloidosis, offering new and exciting optimism.

Ground-Breaking Science in Gene Editing

“A genome is an organism’s complete set of DNA, including all of its genes. Each genome contains all of the information needed to build and maintain that organism. In humans, a copy of the entire genome – more than three billion DNA base pairs – is contained in all cells that have a nucleus.”  – Intellia Therapeutics

CRISPR, short for Clustered Regularly Interspaced Short Palindromic Repeats, is a microbial ‘immune system’ that prokaryotes — bacteria and archaea — use to prevent infection by viruses called phages. At its core, the CRISPR system gives prokaryotes the ability to recognize precise genetic sequences that match a phage or other invaders and target these sequences for destruction using specialized enzymes.

Previous work had identified these enzymes, known as CRISPR-associated proteins (Cas), including one called Cas9. But scientist Emmanuelle Charpentier, working first at the University of Vienna and later at the Umeå Centre for Microbial Research in Sweden, identified another key component of the CRISPR system, an RNA molecule that is involved in recognizing phage sequences, in the bacterium Streptococcus pyogenes, which can cause disease in humans.

Charpentier reported the discovery in 2011 and that year struck up a collaboration with American biochemist Jennifer Doudna. In a landmark 2012 paper in Science, the duo isolated the components of the CRISPR–Cas9 system, adapted them to function in the test tube and showed that the system could be programmed to cut specific sites in isolated DNA – an incredibly precise set of DNA-editing genetic scissors. In 2020, Doudna and Charpentier won the 2020 Nobel Prize in Chemistry for their gene-editing technology.

“The ability to cut DNA where you want has revolutionized the life sciences,” said Pernilla Wittung Stafshede, a biophysical chemist and member of the Nobel chemistry committee, at the prize announcement. “The ‘genetic scissors’ were discovered just eight years ago, but have already benefitted humankind greatly.”

 

How Does CRISPR/Cas9 Work? (3)

This technology acts as an incredibly precise set of molecular scissors, providing instructions to cut an identified gene in a specific position in the nucleus of DNA. There are two primary components to the CRISPR/Cas9 genome editing system:

  • The Cas9 protein, which initially recognizes the DNA and also acts like a pair of “molecular scissors” that precisely cleaves the targeted DNA sequence.
  • The guide RNA, which guides the Cas9 scissors to the desired target DNA sequence and activates the scissors so they cut.

https://www.intelliatx.com/crisprcas9/how-crisprcas9-works/

Background on Hereditary Transthyretin Amyloidosis (hATTR/ATTRv) (1)

Transthyretin amyloidosis is a slowly progressive condition characterized by the buildup of abnormal deposits of a protein called amyloid (amyloidosis) in the body’s organs and tissues. These protein deposits most frequently occur in the peripheral nervous system, which is made up of nerves connecting the brain and spinal cord to muscles and sensory cells that detect sensations such as touch, pain, heat, and sound. Protein deposits in these nerves result in a loss of sensation in the extremities (peripheral neuropathy). The autonomic nervous system, which controls involuntary body functions such as blood pressure, heart rate, and digestion, may also be affected by amyloidosis. In some cases, the brain and spinal cord (central nervous system) are affected. Other areas of amyloidosis include the heart, kidneys, eyes, and gastrointestinal tract. The age at which symptoms begin to develop varies widely among individuals with this condition, and is typically between ages 20 and 70.

There are three major forms of transthyretin amyloidosis, which are distinguished by their symptoms and the body systems they affect.

  1. The neuropathic form of transthyretin amyloidosis primarily affects the peripheral and autonomic nervous systems, resulting in peripheral neuropathy and difficulty controlling bodily functions.
  2. The leptomeningeal form of transthyretin amyloidosis primarily affects the central nervous system.
  3. The cardiac form of transthyretin amyloidosis affects the heart.

Mutations in the TTR gene causes the liver to product the TTR protein in a misfolded form. This misfolded protein can then build up in the body and lead to disease-causing nerve and other organ damage.

 

Clinical Trial Research (4)

According to CRISPRMedicineNews, one of the early clinical trials within gene editing is focused on hereditary transthyretin amyloidosis. In these trials, CRISPR-Cas is either used directly to treat the condition by editing an individual’s genome in vivo or indirectly through ex vivo engineering of a cell-based therapy. An update published November 17, 2020 discusses the clinical trial, which is now underway in the U.K.

CRISPR-Cas9 Trial For NTLA-2001 to Treat Hereditary Transthyretin Amyloidosis With Polyneuropathy

The second newly-added trial is sponsored by US-based Intellia Therapeutics and seeks to enroll 38 participants who are diagnosed with polyneuropathy (PN) due to transthyretin (TTR) amyloidosis (ATTR).

This open-label Phase 1 two-part trial comprises a dose escalation followed by a safety dose expansion study to evaluate the safety, tolerability, pharmacokinetics and pharmacodynamics of Intellia’s most advanced in vivo CRISPR-based therapy candidate, NTLA-2001.

ATTR is a hereditary progressive condition that is characterized by an accumulation of misfolded transthyretin (TTR) protein. The disease results from mutation(s) in the TTR gene, leading to mutant TRR protein that is unstable and easily forms aggregates that deposit as amyloid in various organs and tissues in the body. Organs or body parts most often affected include the nerves, heart, kidneys and eyes.

Life expectancy is typically 2-15 years from disease onset, and current treatment options include transplantation of affected organs and medications to slow progression of disease symptoms.

NTLA-2001 is the first investigative CRISPR-based therapy to be administered in vivo in humans. The new therapy comprises TTR-targeting gRNA and Cas9 mRNA, both of which are delivered in vivo via Intellia’s proprietary lipid nanoparticle technology. Pre-clinical studies support the notion that NTLA-2001 has potential as a one-time curative treatment. The first patient was dosed with NTLA-2001 last week and the study is expected to be completed in 2024.

Worldwide prevalence of spontaneous and hereditary transthyretin amyloidosis (ATTR). Source: Intellia Therapeutics. https://www.intelliatx.com/in-vivo-therapies/

 

Potential Game-Changer for Hereditary ATTR Amyloidosis

 “Once we’ve assessed safety and established an optimal dose, we intend to rapidly initiate trials for the clinical manifestations of ATTR. NTLA-2001 may halt and reverse ATTR progression by producing a deeper, permanent TTR protein reduction for all patients – regardless of disease type – than the chronically administered treatments currently available.” said Intellia Therapeutics President and CEO, John Leonard, M.D.

 Intellia’s proprietary CRISPR/Cas9 system could potentially address diseases with a single course of treatment because it permanently repairs the defective DNA. This represents a breakthrough improvement over current therapies, most of which require lifelong administration because they cannot correct underlying causes of the disease. However, this technology does not pass the genetic changes made to the patient to his or her offspring … the “fix” will not pass from generation to generation.

 

This is exciting news, giving new hope for families who have been ravaged by disease over generations.

 

 

 

 

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If you’d like to read more about Jennifer Doudna, here’s a book recently released by bestselling author Walter Isaacson, The Code Breaker.

 

Sources:

  1. https://crisprmedicinenews.com/clinical-trial/transthyretin-amyloidosis-attr-nct04601051/
  2. crisprmedicinenews.com
  3. https://www.intelliatx.com
  4. https://crisprmedicinenews.com/news/crispr-cas-clinical-trial-update/
  5. https://www.nature.com/articles/d41586-020-02765-9
  6. Doudna Lab, Berkeley, California
  7. CRISPR Therapeutics, Cambridge, Massachusetts
  8. Innovative Genomics Institute, Berkeley, California

 

AI, Protein Folding & Amyloidosis

The Protein Folding Problem

Proteins are the building blocks of life. They are large complex molecules, made up of chains of amino acids, and what a protein does largely depends on its unique 3D structure. Figuring out what shapes proteins fold into is known as the “protein folding problem.”  For decades and decades, one of biology’s biggest challenges has been finding a solution for the “protein folding problem” and is explained in the linked video below.

AI, DeepMind and Google Find Answers

Founded in 2010, DeepMind researches and builds safe AI (Artificial Intelligence) systems that learn how to solve problems and advance scientific discovery for all. They joined forces with Google in 2014 to accelerate their work. They’re a team of scientists, engineers, machine learning experts and more, working together to advance the state of the art in AI.

In a major scientific breakthrough, DeepMind’s AI system AlphaFold has been recognized as a solution to this grandest of all biological problems – the “protein folding problem.”  Here is an excellent video explaining AlphaFold and the making of a scientific breakthrough.

According to Professor Venki Ramakrishman, Nobel laureate and President of the Royal Society,

This computational work represents a stunning advance on the protein-folding problem, a 50-year-old grand challenge in biology.  It has occurred decades before many people in the field would have predicted. It will be exciting to see the many ways in which it will fundamentally change biological research.

 

Potential Impact for Amyloidosis

For diseases which originate with misfolded proteins, such as amyloidosis, “investigators have been doing this exercise by ‘brute force’ until now,” according to Dr. Angela Dispenzieri from the Mayo Clinic.  This AI research is likely to open a whole new world of insight and answers, from which new and more effective treatments can be developed.

Marina Ramirez-Alvarado, Ph.D., whose research laboratory at the Mayo Clinic studies misfolding and amyloid formation in light chain amyloidosis, had this to say.

The protein folding problem, one of the most important scientific questions of the 20th century is making headlines today with the artificial intelligence work from DeepMind. It is clear that DeepMind will provide important basic understanding of the folding process and will significantly benefit those amyloidosis diseases that involve secreted, folded proteins, such as light chain (AL), and Transthyretin (ATTR) amyloidosis.

Dr. Morie Gertz, a hematologist/oncologist from the Mayo Clinic who has decades of clinical experience with amyloidosis, weighs in on some of the possible outcomes from this ground-breaking research.

The ability to predict protein folding in three dimensions may result in the ability to predict which protein sequences are likely to form amyloid fibrils. In light chain amyloidosis this could allow for long-term monitoring of selected patients likely to develop amyloidosis. This would permit extremely early diagnosis long before symptoms developed. It would also allow for the exploration of why wild-type TTR amyloidosis forms amyloid fibrils in the heart in some patients but not in others.

 

However, it won’t answer all questions …

Dr. Vaishali Sanchorawala, director of Boston University’s Amyloidosis Center offers these words of perspective.

The “protein folding problem” that DeepMind’s AlphaFold is designed to solve is predicting the native, functional state of a protein from just its amino acid sequence. Amyloidosis, though, is caused by our bodies’ failure to solve that problem, resulting in misfolded and aggregated proteins. AlphaFold’s remarkable achievement can definitely help to better understand native structure of amyloidogenic light chain proteins. However, amyloid fibrils are different from the native states of their precursor proteins and therefore the adaptation of AlphaFold to study protein misfolding and aggregation, perhaps by predicting the structures of complex amyloid fibrils, might be better able to predict the effects of mutations that alter people’s risk of developing amyloidosis.

 

In closing …

AI is rapidly advancing the knowledge of protein misfolding, unlocking answers for amyloidosis which should lead to earlier diagnosis, improved treatment, and better patient survival.

 

 

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Sources:

Angela Dispenzieri, M.D.

Morie A. Gertz, M.D., M.A.C.P.

Vaishali Sanchorawala, M.D.

Marina Ramirez-Alvarado, Ph.D.

 

High Accuracy Protein Structure Prediction Using Deep Learning

John Jumper, Richard Evans, Alexander Pritzel, Tim Green, Michael Figurnov, Kathryn Tunyasuvunakool, Olaf Ronneberger, Russ Bates, Augustin Žídek, Alex Bridgland, Clemens Meyer, Simon A A Kohl, Anna Potapenko, Andrew J Ballard, Andrew Cowie, Bernardino Romera-Paredes, Stanislav Nikolov, Rishub Jain, Jonas Adler, Trevor Back, Stig Petersen, David Reiman, Martin Steinegger, Michalina Pacholska, David Silver, Oriol Vinyals, Andrew W Senior, Koray Kavukcuoglu, Pushmeet Kohli, Demis Hassabis.

 

In Fourteenth Critical Assessment of Techniques for Protein Structure Prediction (Abstract Book), 30 November – 4 December 2020. Retrieved from here.

 

 

1st FDA-Approved Drug for AL Amyloidosis

After decades of relying on treatments approved for other diseases, on January 15, 2021 the FDA approved the first drug for AL Amyloidosis. Truly a game-changing, monumental advancement in the treatment of this disease.

 

On January 15, 2021, the Food and Drug Administration granted accelerated approval to daratumumab plus hyaluronidase (Darzalex Faspro, Janssen Biotech Inc.) in combination with bortezomib, cyclophosphamide and dexamethasone (CyBorD) for newly diagnosed light chain (AL) amyloidosis. “AL amyloidosis is a devastating and potentially fatal blood disorder that, until now, did not have any U.S. FDA-approved therapies. This makes today’s approval of DARZALEX FASPRO a critical step forward for patients in the U.S. in dire need of treatment options,” said Jan van de Winkel, Ph.D., Chief Executive Officer of Genmab.

ABOUT AL AMYLOIDOSIS (1)

Amyloidosis is a disease that occurs when amyloid proteins, which are abnormal proteins, accumulate in tissues and organs. When the amyloid proteins cluster together, they form deposits that damage the tissues and organs. AL amyloidosis most frequently affects the heart, kidneys, liver, nervous system and digestive tract. Until now there were no approved therapies for AL amyloidosis in the U.S., though it is currently being treated with chemotherapy, dexamethasone, stem cell transplants and supportive therapies. It is estimated that there are approximately 3,000 to 4,000 new cases of AL amyloidosis diagnosed annually in the U.S.

CLINICAL TRIAL

Efficacy was evaluated in ANDROMEDA (NCT03201965), an open-label, randomized, active-controlled trial in 388 patients with newly diagnosed AL amyloidosis with measurable disease and at least one affected organ according to consensus criteria. Patients were randomized to receive bortezomib, cyclophosphamide, and dexamethasone (VCd arm) or with Darzalex Faspro (D-VCd arm).

The hematologic complete response (HemCR) rate based on established consensus response criteria as evaluated by an independent review committee was 42.1% for the D-VCd arm and 13.5% for the VCd arm (odds ratio=4.8; 95% CI: 2.9, 8.1; p<0.0001).

The prescribing information includes a Warnings and Precautions that serious or fatal cardiac adverse reactions occurred in patients with light chain (AL) amyloidosis who received Darzalex Faspro in combination with bortezomib, cyclophosphamide and dexamethasone. Darzalex Faspro is not indicated and is not recommended for the treatment of patients with light chain (AL) amyloidosis who have NYHA Class IIIB or Class IV cardiac disease or Mayo Stage IIIB outside of controlled clinical trials.

The most common adverse reactions (≥20%) in patients with light chain (AL) amyloidosis who received the D-VCd regimen are upper respiratory tract infection, diarrhea, peripheral edema, constipation peripheral sensory neuropathy, fatigue, nausea, insomnia, dyspnea and cough.

HOW DARZALEX FASPRO WORKS

Darzalex Faspro is an immunotherapy that works with your body to fight disease, preventing the abnormal plasma cells from creating excess light chains.

Darzalex Faspro is a subcutaneous injection, typically administered with several additional drugs intended to minimize reactions. Treatment usually begins with weekly injections for eight weeks, followed by bi-weekly injections for another eight weeks, and then monthly injections thereafter.

FDA APPROVAL

The FDA approved this application 7 weeks ahead of the FDA goal date. This application was granted accelerated approval based on response rate.

With FDA approval, this gives healthcare professionals even more ammunition in the treatment of amyloidosis, and should positively impact (i.e., reduce) complexities that patients often experienced in order to receive insurance company approval. Darzalex Faspro (daratumumab and hyaluronidase-fihj), approved for AL amyloidosis, now joins three other FDA-approved drugs for TTR amyloidosis  (Onpattro (patisiran), Tegsedi (inotersen) and Vyndamax (tafamidis)).

Progress!

—————–

  1. Genmab announcement

Adapting During COVID-19

While our amyloidosis patient presentations have always been in-person, whether in class or over lunch, during this unusual time surrounding the COVID-19 pandemic we are offering two excellent virtual alternatives, each accompanied by a presentation by one of our advisors. These virtual packages have already been shared with hundreds of medical students across the country and have been well received.

1a)  Live webinar. Hosted by the medical school on their platform, our patient speaker provides a live presentation of their journey with this disease, from symptoms through diagnosis and treatment, and life today, followed by real-time Q&A. Typically one hour in length, we are very flexible and work with the school’s desired date and time.

OR

1b)  Pre-taped patient video presentation.  Jessica, one of our patient speakers, shares her journey with cardiac AL amyloidosis with medical students at the University of Colorado School of Medicine. She takes the audience through her early symptoms, diagnosis, treatment, and her “new normal” life today, offering her perspective as a patient with a rare disease. Her emotional and compelling story is about 30 minutes long, followed by 10 minutes of Q&A from the students.

PLUS

2)  Clinical PDF on Diagnosing Amyloidosis.  An excellent powerpoint presentation “Diagnosing Amyloidosis: From Cardiology to Neurology” by Dr. J. Mark Sloan from Boston University’s Amyloidosis Center, including patient and pathology pictures, and clinical diagnostic information.

We believe, and feedback confirms, these virtual packages are a compelling alternative to in-person that advances students’ knowledge of amyloidosis while sharing valuable insights from both the patient and clinical perspectives.  These virtual packages can be customized to focus on other types of amyloidosis, organ involvement, and expert medical presentation topics to meet specific audience interests.

If interested in learning more, please contact us at asb.mm713@gmail.com.

ASB: 2020 Spring Update

During this global pandemic, our hearts, prayers, and gratitude are with everyone to stay safe, particularly those on the front line, first-responders, and essential workers. These are unusual times, and we see all of you as heroes amongst us.  Thank you.

At the Amyloidosis Speakers Bureau (ASB) we have spent a good deal of time reacting, assessing, and pivoting to a new normal during the pandemic. Here are the highlights for Spring 2020.

EXECUTIVE SUMMARY

February 1st was our one year anniversary since launch. We are proud of all we have accomplished in such a short period of time, and are deeply committed to the long haul. Our operational infrastructure is in place and can devote the majority of our time to school outreach, presentation arrangements and speaker management/support.

The year 2020 got off to a fast start, beginning as early as January 9.  We had a steady flow of presentations through end-February, and then COVID-19 hit and quickly brought the world to its knees.  Everyone has been affected, and we are no different. Presentations, whether virtual or in-person, have all but dried up for now, and we anticipate a burst of activity once normalcy returns.

In response to the crisis, we rolled out a virtual presentation package as an alternative to in-person presentations. The heart of our virtual presentation package is a full-length patient presentation video. Accompanying the video is a powerpoint presentation from our educational library on diagnosing amyloidosis, authored by one of our respected amyloidosis expert advisors. Our agility in being able to quickly assemble a package enabled us to provide needed online content for schools during this time, accomplish our goal of educating students, and allow our speakers to still make an impact. Early feedback indicates our virtual presentation package is well received.

Our goal for 2020 is to do 60 presentations. With only 19 thus far (9 in-person and 10 virtual), and all activity has gone dormant for an undetermined amount of time, it is hard to say where we will end the year.

We have added in-depth guidance for new speakers in the development of their presentation outline and rehearsal training for their delivery. This helps speakers gain more confidence and skill development, and strengthen the quality of our presentations for the audience.

In May we will be doing our next mailing to the medical school deans, updating them on our new virtual presentation offering and what schools we have been to. The last mailing was October, 2019.

We have launched a bi-monthly/quarterly mailing to medical students interested in receiving more information on amyloidosis. Content is pulled from experts and other trusted organizations with the intention to offer brief insights into the disease from the medical perspective. While the list is small and growing slowly, these are students that truly want to know more, so we are delighted to keep this disease front of mind for them.

Since inception, the ASB has conducted 41 in-person and virtual presentations, with our educational materials reaching over 9,650 medical students!

 

COVID-19

All of our presentations since March were cancelled, as the schools moved to online teaching and ceased in-person gatherings. All have indicated they will be happy to put us back on the calendar once normalcy returns, but of course, none of us know when that will be. Below we highlight our actions and a few things we have learned along the way.

– Acknowledged that this was indeed a crisis with momentum. We saw this as a fast-moving global health crisis first, and a shift in ‘way of working’ second.

– Prioritized our attention. Our focus was our patient speakers, developing an alternative to in-person, and the schools where we had presentations on the calendar.  At a later date we would communicate with advisors, key donors and grantors, and the rest of the schools.

– Communicate, communicate and communicate.  We reached out to speakers to share our concern of the situation and intention to never put them at risk. In addition, we offered to reimburse them for any outstanding expenses incurred, even for cancelled presentations, so as to not have any negative financial impact.

– Found a new ‘way of working,’ and fast.  We weren’t sure what the schools’ preference would be for an in-person alternative, so we came up with two that were based on resources readily available:  a pre-recorded patient speaker presentation and a live webinar (we would find those speakers with this kind of technology experience already). We also selected one powerpoint presentation from our educational library and offered that as an additional element – one that specifically focused on diagnosing all major types of amyloidosis.

– Was nimble and willing to adjust.  Every school where we had a presentation scheduled switched to online learning, and every one of them chose the pre-recorded patient speaker presentation + powerpoint.  Two schools with further out dates are considering the live webinar.

In the end, schools were happy as we could quickly provide easy-to-implement online content. We were happy as education about the disease was still happening.  Our speakers were happy as they remained safe, yet knew they were still making a difference. Win-win-win. When we come out of this we will revert to in-person presentations, which we believe are the most powerful, but we will more aggressively build our patient speaker video library, know/train selected speakers on video conferencing for live presentations, and keep current our expert educational library, as we have learned these are valuable building blocks for alternatives that we can tap into with ease for different situations.

 

THE NUMBERS

  • We have had 19 presentations thus far in 2020. Combined with 22 in the Fall, that brings our 2019-2020 school year presentations up to 41. Here is a representative list of names.
    • Central Michigan University College of Medicine
    • Cleveland Clinic Lerner College of Medicine
    • Columbia University Vagelos College of Physicians and Surgeons
    • Florida State University College of Medicine
    • Icahn School of Medicine at Mt. Sinai
    • Loyola University Chicago Stritch School of Medicine
    • Mayo Clinic Alix School of Medicine, Rochester
    • Mayo Clinic Alix School of Medicine, Scottsdale
    • Northwestern University Feinberg School of Medicine
    • NYU Grossman School of Medicine
    • Quinnipiac University Frank H Netter MD School of Medicine
    • Stanford University School of Medicine
    • Tufts University School of Medicine
    • University of Arizona College of Medicine, Phoenix
    • University of Arizona College of Medicine, Tucson
    • University of Colorado School of Medicine
    • University of Connecticut School of Medicine
    • University of Florida College of Medicine
    • University of Illinois College of Medicine, Chicago
    • University of Illinois College of Medicine, Peoria
    • University of Illinois College of Medicine, Rockford
    • University of Iowa Carver School of Medicine
    • University of Kansas School of Medicine, Wichita
    • University of Minnesota Medical School
    • University of Toledo School of Medicine
    • UNLV School of Medicine
    • Virginia Commonwealth University School of Medicine
    • Wayne State University School of Medicine
    • Wright State University Boonshoft School of Medicine
  • Approximately ⅓ of the presentations are within a course curriculum class, with the remainder to student interest groups.
  • Per the organizers, the outreach in 2020 for our presentations went to over 5,400 students, bringing the school year total to over 9,650 students receiving our information.
  • An additional 7 schools have expressed an intention to have a speaker present; however, at this time we anticipate that they will either accept our virtual presentation offering or defer an in-person presentation until the 2020-2021 school year.
  • Our goal for 2019 was to do 15 presentations; that was accomplished.
  • Our goal for 2020 is to do 60 presentations. With only 19 thus far, and activity gone dormant for an undetermined amount of time, it is hard to say if we will achieve our goal. We hope so.
  • Our universe of U.S. medical schools and student interest groups totals around 230, and where we can find contact information, we have reached out to 100% of the groups.  We have an ongoing outreach and, with each push, we increase our connections. 
    • Overall, we have connected with 60% of these groups; here’s how it then breaks down.
      • 35% have presentations made, or are in the queue
      • 11% have interest and are considering
      • 25% have passed our information on
      • 3% have deferred until next year
      • 9% have indicated their curriculum is full, so no interest
      • 17% have said they have no interest

 

SPEAKERS

The cornerstone of our effort is our group of wonderful patient speakers, who passionately volunteer their time to give back and share their stories of life with amyloidosis.

On average, we have between 40 and 50 active speakers. Periodically, a speaker’s health may change and they may step back either temporarily, or permanently, depending on their situation. To counter this, we are fortunate to have a steady pipeline of new speaker interest, which we spend time screening, qualifying and training. At present, we feel this is an appropriate number of speakers for our current and anticipated growth. We have a diversified breakdown of speakers — by geography across the continental U.S., by amyloidosis type, by organ involvement, by gender and age. This enables us to match speakers with audiences, if and when appropriate. 

One area we have added resources to is training and presentation development for our speakers. Thanks to one of our speaker volunteers who has extensive experience, we now offer in-depth guidance for new speakers in the development of their presentation outline and rehearsal training for their delivery. For those partaking, it has been an appreciated additional level of support.

 

ADVISORS

We are proud to have an impressive group of medical experts and influencers in the world of amyloidosis, some of whom are also patients, as advisors to support our initiative. Our advisors are active in our efforts and contribute their specialized expertise in a variety of ways, such as medical school introductions, grant requests, educational development, and patient speaker assessment/development. We are extremely grateful for their assistance and believe that, thanks to their contribution, the ASB will make an even bigger difference in the diagnoses of this disease.

Kevin Anderson, M.D.

Kelsey Barrell, M.D.

John L. Berk, M.D.

Raymond L. Comenzo, M.D.

Angela Dispenzieri, M.D.

Rodney H. Falk, M.D.

Muriel Finkel

Rafael Fonseca, M.D.

Morie A. Gertz, M.D.

Martha Grogan, M.D.

James E. Hoffman, M.D.

Craig C. Hofmeister, M.D., MPH

Gordon S. Huggins, M.D.

Scott D. Jerome, D.O.

Taxiarchis Kourelis, M.D.

Tibor Kovacsovics, M.D.

Jane E. Kramer, M.D.

Heather J. Landau, M.D.

Suzanne Lentzsch, M.D., Ph.D.

Nelson Leung, M.D.

Edward N. Libby, M.D.

Michaela Liedtke, M.D.

Isabelle Lousada

Mathew S. Maurer, M.D.

Jose Nativi-Nicolau, M.D.

Mary O’Donnell

Maria M. Picken, M.D., Ph.D.

Marina Ramirez-Alvarado, Ph.D.

Cara Rosenbaum, M.D.

Michael Alan Rosenzweig, M.D., M.S.

Frederick L. Ruberg, M.D.

Vaishali Sanchorawala, M.D.

Brett W. Sperry, M.D.

Stephen B. Strum, M.D.

Janice F. Wiesman, M.D., FAAN

Jeffrey Zonder, M.D.

 

STUDENT TESTIMONIALS – OUR TRUE REPORT CARD

Feedback from students and medical school organizers has been extraordinarily positive. It reinforces to us that the patient stories are a valuable complement to the medical school curriculum, strengthening the learning and deepening the durability for these future doctors about this disease. This is exactly why we do what we do. Here are some of their words from Spring 2020.

This was wonderful! Thank you for your time. It is very helpful to hear about how this sometimes esoteric disease presents from an individual patient’s perspective. It helped to put a face to the confusing disease we read only briefly about in our medical textbooks.   Diana Lopez, MD Candidate, Cleveland Clinic Lerner College of Medicine

This session is a great reminder of why I chose to be a doctor. Seeing the patient’s struggles gave us a new perspective on a disease that we see throughout the year.  Miranda Rose Ricart, MD Candidate, Florida International University School of Medicine

Such a powerful presentation that I will carry with me throughout my whole career, no matter what specialty I go into! I not only learned the importance of keeping amyloidosis on my differential, but also the importance of really listening to your patients and working through the hard diagnoses together.   Solana Archuleta, MD Candidate, University of Colorado School of Medicine

I had several students make comments after the conclusion of the presentation that it was the best, one even said ‘exceptional,’ presentation given at our school from a patient.  The materials gave all of the students, including myself, a great introduction to some of the pertinent findings in patients with amyloidosis. Co-President of the Internal Medicine Interest Group, University of Arizona College of Medicine, Phoenix

It was great to hear a patient’s perspective to condense the knowledge we learn into a real-life memory. It was also great just to meet someone who clearly had a passion for life.  Ghalib Shaikh, MD Candidate, University of Connecticut School of Medicine

Hearing Ed talking about his journey with Amyloidosis was an incredible experience that only further inspired me to want to be a better physician for my future patients. It is one thing to learn about a condition in the classroom, but hearing the real-world struggles with it from another human being provides a whole new perspective. Ed was open about his journey and shared his feelings during each step, giving us insight into what it is like to be a patient with Amyloidosis. I will take what I learned from this presentation and apply it in order to ensure that patients I see in the future do not have to deal with the same issues that Ed had to deal with.   Gurkaran Singh, MD Candidate, University of Arizona College of Medicine, Tucson

Diseases such as amyloidosis are often managed by specialists, but it is important for primary care physicians to recognize these signs and direct these patients to these specialists. Increasing awareness of these diseases among all physicians will help patients reach an answer sooner and can have a significant impact on their lives.  Yue Zhang, MD Candidate, Northwestern Feinberg School of Medicine

 

We are energized from all we have accomplished thus far, know we have much ahead, and hope we have made our amyloidosis community proud.

 

Stay safe and take care,

Mackenzie, Charolotte, and Deb

Operating Committee of the Amyloidosis Speakers Bureau, sponsored by Mackenzie’s Mission

For more information, visit  www.mm713.org/speakers-bureau/

 

ASB: 2019 Year-End Review

It’s been an exciting 11 months!! We have closed out 2019, nearly one year from our launch last February 1st, and we wanted to send a recap of how it went and what we see looking ahead for 2020.

Our mission is to educate future doctors about amyloidosis, with the belief that heightened awareness will lead to earlier diagnosis and ultimately improve patient survivorship. We know that the level of medical school education about amyloidosis runs the gamut, from a small mention in textbooks to classroom discussions with medical professionals, although the bias is overwhelmingly towards the “minor mention.” As a result, we are confident our efforts will provide students with a valuable enriched exposure to this disease to augment the medical school curriculum. 

The cornerstone of our effort is our group of patient speakers, who passionately volunteer their time to give back and share their stories of life with amyloidosis. Augmenting their real-life journeys, all students invited in our outreach can view an educational video on the disease and have access to a curated library of presentations by amyloidosis experts on the disease and diagnosis as well as numerous patient survivor stories. We so appreciate each and every one of our speakers!

We launched our initiative on February 1, 2019 and spent the first two months getting our operational and digital platform in place (www.mm713.org/speakers-bureau/ ). In April, we began emailing medical schools, developing our educational library, enlisting the support of expert advisors, and recruiting amyloidosis patient speakers.

We needed to build a platform for the ASB to support an ongoing annual initiative. In addition, knowing we were forging new territory we set a relatively modest goal for our first partial year, Fall semester 2019, which was to secure 15 medical school presentations. We are proud to say we accomplished both!  As you’ll read below, we now have an operational infrastructure for growth year-on-year. In addition, for the Fall semester 2019 we made 22 presentations, with our materials reaching over 4,200 medical students. Our first year — a success!

So let’s recap the details of what we accomplished in eleven short months. 

    • Reached out to 258 medical schools and student interest groups across the U.S.
      • 50% responded to our inquiries.  Of these,
        • 46% responded with some level of interest,
        • 32% passed us on to a colleague for consideration but never heard from anyone,
        • 9% said their curriculum was full and not open to new additions, and
        • 13% indicated they were not interested.
    • Scheduled 32 presentations, 22 were made in the Fall 2019 and 10 more are on the calendar for Spring 2020.  Another 10 are queued up to be scheduled for Spring 2020. 
      • According to the schools for these 32 presentations, the ASB educational information is estimated to reach around 6,200 students!
    • Names of schools scheduled include:
      • Central Michigan University College of Medicine
      • Cleveland Clinic Lerner College of Medicine
      • Columbia University Vagelos College of Physicians and Surgeons
      • Florida State University College of Medicine
      • Loyola University Chicago Stritch School of Medicine
      • Mayo Clinic Alix School of Medicine, Rochester
      • Mayo Clinic Alix School of Medicine, Scottsdale
      • NYU Grossman School of Medicine
      • Quinnipiac University Frank H Netter MD School of Medicine
      • Stanford University School of Medicine
      • Tufts University School of Medicine
      • University of Arizona College of Medicine, Phoenix
      • University of Colorado School of Medicine
      • University of Connecticut School of Medicine
      • University of Florida College of Medicine
      • University of Illinois College of Medicine, Chicago
      • University of Illinois College of Medicine, Peoria
      • University of Illinois College of Medicine, Rockford
      • University of Iowa Carver School of Medicine
      • University of Kansas School of Medicine, Wichita
      • University of Minnesota Medical School
      • UNLV School of Medicine
      • Virginia Commonwealth University School of Medicine
      • Wayne State University School of Medicine
      • Wright State University Boonshoft School of Medicine

 

  • Organized a semi-annual email to the Deans of all medical schools, queued for May and October. First one went October 2019.

 

  • Recruited 44 patient speaker volunteers across the U.S. with a wide array of types of amyloidosis, the most prevalent being AL and ATTR (both hereditary and wild-type). They have brought wonderful energy and transparency in sharing their stories, offering raw insights into managing through such a difficult disease. It’s a passionate commitment from them, paying it forward to those that follow. They are the priceless cornerstone of our success and we are endlessly grateful. A few of our speakers have summed it up so eloquently.

It was a pleasure to speak with 2nd year medical students about my experience as not only a cardiac AL survivor, but as a heart transplant survivor as well. I think the ASB is going to change the face of Amyloidosis and be instrumental in making strides in early diagnosis and treatment. 

I can think of little that is more rewarding in my medical journey than discussing this disease with those who might be in the position to recognize it in their patients now and in the future.

I was really looking for something good to come out of a personally bad situation. To be able to help raise awareness of future doctor’s is a great way of doing that.

 

  • Developed an educational library comprised of multiple components, with the emphasis of the content towards diagnosis rather than treatment. Documents include:
    • Amyloidosis Awareness – an introduction to amyloidosis, laying a broad foundation of the disease, developed by experts.  Note: the video of this, narrated by Michael York, is shown at the onset of every presentation.
    • A presentation on diagnosing amyloidosis (J. Mark Sloan, MD)
    • A presentation on diagnosis of amyloidosis (Maria Picken MD, PhD)
    • A presentation on amyloidosis and the kidney (Laura M. Dember, MD)
    • A presentation on cardiac amyloidosis (Martha Grogan, MD)
    • A presentation on cardiac amyloidosis (Brett W. Sperry, MD)
    • A presentation on What Every Cardiologist Needs To Know (Martha Grogan, MD)
    • A presentation on the diagnosis of amyloid cardiomyopathy (Kumal Bhatt, MD)
    • A presentation on Amyloid Polyneuropathy (Janice Wiesman, MD)
    • A presentation on Amyloidosis & the Gut (John O. Clarke, MD)
    • A presentation on ATTRwt Amyloidosis (Mat Maurer, MD)
    • A presentation on an Overview of hATTR (Fredric Ruberg, MD)
    • A presentation on the Central Nervous System and Ocular Involvement in hATTR (Chafic Karam, MD)
    • A presentation on pathology and laboratory testing for amyloid (Alton Farris MD, David Jaye MD)
    • A selection of patient survivor stories, highlighting their journey with the disease.

 

  • Received the support of 33 advisors who include medical experts and influencers in the world of amyloidosis, some of whom are also patients. A number of our advisors are active in our efforts and contribute their specialized expertise in a variety of ways, such as educational development, medical school introductions, and patient speaker assessment/development. We are so appreciative of their  support, offering powerful affirmation and credibility to our efforts. 

We have learned a few things from our early efforts which have helped us to adapt and to strengthen our offering. For example, we initially focused exclusively on getting integrated into the curriculum. We found that to be far more difficult, as curriculums are already dense and offer rare opportunities for adding in a one-hour segment for a rare disease. Thankfully, early on we learned about student interest groups (SIGs) as an alternative to reach a portion of the students. Thus our outreach is dual-focused: to those determining the curriculum and to the leaders of the relevant SIGs. In a second example, we initially thought that requiring students to read one presentation in advance was not too much of an ask. Wrong. We found that only 5-10% of students did so. Thus we shifted to have advance reading be optional, and we play a 10-minute Amyloidosis Awareness video at the onset of the presentation. The feedback from this adjustment has been well received. Gathering and listening to feedback, and being willing to pivot and adapt along the way, will continue to be an important part of our mindset.

Feedback from students and medical school organizers has been extraordinarily positive. It reinforces to us that the patient stories are a valuable complement to the medical school curriculum, strengthening the learning and deepening the durability for these future doctors about this disease. This is exactly why we do what we do. Here’s a glimpse into what students are telling us.

The presentation helped put a human face to a disease that is often only seen in test questions. You can easily forget a question, but it is much harder to forget a face.  Mayo Clinic Alix School of Medicine; Ramin Garmany, MD-PhD candidate

Amyloidosis is something we often call a “Zebra” disease. Its presentation is odd and confusing and its treatments few. Since AL is most treatable early, keeping it in your differential is so important. Having ASB talk at my school reinforced that idea. I believe that I will be a better physician for having attend this lecture.  University of Illinois College of Medicine Rockford; Rachel Miller, MD Candidate

It’s difficult to imagine as a student the impact of trying to find a diagnosis when your condition is so rare. Just hearing the first hand impact of trying to find a diagnosis was impactful. It was really valuable to hear two patient’s experiences, it reinforced the diversity of clinical presentations.  Tufts University School of Medicine; Kathryn Kompa, MD Candidate

Incredibly valuable to understand the patient’s journey throughout her disease progression. Her presentation made the hardships and resilience of an amyloidosis patient tangible and forced us to think about the disease as more than just facts presented on a powerpoint slide.  Loyola University Stritch School of Medicine, Alexandra E. Dereix, MD Candidate

This presentation was a wonderful supplement to my medical education because it brought amyloidosis to life and reminded me that there are actual people behind these devastating diseases. During the second year of medical school, it can seem very disconnected and abstract to study disease after disease and memorize the clinical presentations, treatments, and prognoses. It is refreshing to hear from an actual patient and be reminded of why we’re in medical school.  Loyola University Stritch School of Medicine, Alexis Stefaniak, MD Candidate

This experience gave me both a greater understanding of amyloidosis as a medical condition, as well as insight into how such a disease can affect someone’s quality of life. I think that after this presentation, I will be a more informed physician and a better advocate for my patients in the future.  Loyola University Stritch School of Medicine, Erin McCune, MD Candidate

This was an incredible experience full of insight; learning about amyloidosis from the patient perspective will aid me in becoming a more knowledgeable and empathetic physician in the future.   Loyola University Stritch School of Medicine, Katherine Bauer, MD Candidate

There is no learning tool more powerful than hearing a patient’s story for a disease. It not only puts a face to the condition, but the emotional memories you form from these experiences stick with you throughout your clinical years and beyond. Amyloidosis came to life during this presentation, and now we have the tools and knowledge to recognize it in our future patients. Having such a talented speaker and vetted resources allowed us to feel engaged and prepared to understand a condition that is not as rare or difficult to treat as we think!   Virginia Commonwealth University School of Medicine, Amber Domato, MD Candidate

 

Looking forward, we have quadrupled our goals for 2020 — to secure 60 presentations. We will start with the schools we have already presented to and discuss returning, and those schools that have voiced interest. Of course, we will continue our outreach to those we don’t have a dialogue with in hopes of a breakthrough.

We are proud of what we have accomplished in our first calendar year, thankful for the support from so many, and are energized about our potential. It truly is rewarding and exciting to be a part of helping to change the trajectory of this disease for future patients.

With warm regards,

Mackenzie, Charolotte, and Deb

 

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