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Gesna: How Hereditary Cardiac Amyloidosis Affects Her Life

View this short video from ASB patient educator Gesna about her journey with hereditary cardiac amyloidosis. She shares the devastation of many family members lost to the disease, symptoms she now knows were “red flags” that were missed along the way to diagnosis, her life today and positive outlook for the future.

Finally, she offers a powerful message to the African American community where the need to raise awareness is an urgent call to action.

 

Many thanks to AMCP for producing this video.  AMCP, the Academy of Managed Care Pharmacy, is the professional association leading the way to help patients get the medications they need at a cost they can afford.

Weeds in the Garden: ABCs of AL Amyloidosis

Dr. Morie Gertz, hematologist, professor of medicine at the Mayo Clinic in Rochester and world renowned expert in amyloidosis, provides the ABCs of AL amyloidosis. His “Weeds in the Garden” is a legendary story explaining the biology behind this disease and how mis-folded proteins are created and evolve. He concludes with how treatments seek to deal with these mis-folded proteins and the goal of improving patients’ quality of life. This is a must-watch video for healthcare professionals from an esteemed expert.

The Caregiver Role: Tips and Tricks to Avoid Burnout

Whether it comes out of nowhere and flips your world upside down or has become an increasingly present role, being a caregiver is challenging. Most often, you already have a long list of roles – parent, spouse, employee, business owner, friend – and adding one more job to the extensive list can be overwhelming. While taking on a caregiver role can be taxing, know you are doing an essential job. Our tips for caregivers will help ensure you don’t burn out while caring for your loved one.

Don’t go it alone

Being a caregiver can be a lonely path without a support team behind you. Just as your loved one needs to lean on you, you need to lean on others around you. If you spread yourself too thin, you’re prone to burnout. Rely on the support available – friends, family, community groups – many resources can make your life easier. A support group for patients or caregivers is a great place to start. You’ll meet people going through something similar who may have suggestions for further resources in your area. Finally, be sure to share your experiences. Whether it’s a friend, family member or therapist, venting and talking through your feelings will help you feel less alone. The more people on your side, the better!

Embrace schedules & routines

Do everything possible to reduce your mental load and make life easy. This is a time for shortcuts. Things like scheduling apps and reminders for mediations and appointments are helpful. It’s also a good idea to create a medical binder that includes medication lists, treatment plans, and doctor’s numbers so essential info is in one place and easy to access. If you have anyone else who comes in to help, a list of routines, medication timing, etc., will make it easy to give directions. Try meal planning and prepping in advance to have healthy options on overwhelming days. And be sure to schedule time to care for yourself. Whether it’s an exercise routine or time out of the house, you’re more apt to prioritize self-care if you make it a regular part of your routine.

Prioritize your mental health

Being a caregiver is a challenging role that can weigh heavily on your mental health. Practice regularly taking care of yourself. That could be talking to a therapist, joining a support group, or adding journalling or meditation to your routine. Taking breaks is essential for your mental health to ensure you don’t burn out. Schedule time to get out of the house, make room for the things you love to do, connect with others, and know your limits. Set boundaries and ask for help so you don’t get overwhelmed. And try whenever you can to keep a sense of humour – some days, it may be the only thing that helps you get by!

Learn about your loved one’s condition

Knowing about the disease or chronic illness your loved one is facing will help you provide the best possible care. Understanding the challenges they might face can help you be prepared. Being up to date with current treatments can help you advocate for your loved one. Be sure to seek reliable, current resources for the best possible information.

Have open conversations about your caregiving role

Talk to your loved one about what they need from you. What can they still do on their own? They may only have a small amount of energy to expend in a day – ask them how they want to spend it. What would they like to prioritize – what means the most to them? Small things like making a grocery list, preparing a meal, or folding laundry while they sit can help your loved one keep a sense of independence. Be sure to have these conversations often, as their priorities and energy levels may shift.

Ask for help

Don’t be afraid to ask for help. Many people want to lend a hand but don’t know how to help. Be prepared with a list of things they can do when loved ones offer assistance. Create a list of jobs others can take off your plate (picking up prescriptions, driving to appointments, buying groceries, making dinners or walking the dog). Seek resources like care workers or nurses who can come into your home and give you a break. And if friends and family are offering to help, take them up on it.

Being a caregiver is one of the toughest things you’ll ever do. Find compassion for yourself. Give yourself grace because you have many demands on your time. Remember that your physical and mental health is essential. You deserve fun and relaxation, and there is no shame in asking for help so you can take a breather. There will be both good and bad days – on the good days, soak it up and celebrate the small wins. And always remember you aren’t alone in this!

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Lori Grover is a guest blogger for Mackenzie’s Mission. She was diagnosed with AL Amyloidosis in 2016 and writes to share experiences and lessons learned during her journey. When not writing, she is mostly a stay-at-home mom, florist, crafter, lover of books and food.

Do You Need a Heart Biopsy to Diagnose Cardiac Amyloidosis?

Dr. Ahmad Masri, Director of the Cardiac Amyloidosis Program at Oregon Health & Science University (OHSU), reminds us about the traditional approach to diagnosis of cardiac amyloidosis. Unfortunately, this has not been enough. Thankfully, over the past decade that has all changed. He talks about OSHU’s approach to diagnosis today and what other data is used to arrive at a diagnosis of cardiac amyloidosis, offering four sample patient cases for insights.

Transthyretin Amyloidosis (ATTR) Treatments: Stabilizers, Silencers, Depleters, and More!

Transthyretin (TTR) is a protein, mainly produced by the liver. The name transthyretin is derived from the protein’s function of transporting the hormone thyroxin as well as retinol. (2) In the case of Transthyretin Amyloidosis, TTR proteins (in the form of a tetramer) separate into individual monomers and become misfolded. The misfolded proteins aggregate into amyloid fibrils which deposit throughout the body, eventually causing symptoms that may be cardiac, neuropathic, gastrointestinal, etc. in nature.

The two main types of ATTR are Wild Type and Hereditary. Wild Type Amyloidosis is a disorder predominately of older men in their 70s and beyond. Hereditary Amyloidosis is associated with an inherited genetic mutation.

The four main types of treatments for ATTR, either currently available or in development, consist of stabilizers, silencers, depleters, and gene editors. Note the treatments discussed below include those that are FDA-approved at the time of writing; new FDA-drugs will likely become available in the future.

 

Stabilizers 

TTR stabilization therapy aims to prevent misfolding/destabilization of TTR as shown circled in blue on the illustration below.

 

There are several TTR stabilization therapies available, including acoramidis, tafamidis, and diflunisal.

Acoramidis (AG10) binds to TTR at thyroxine binding sites and slows dissociation of the TTR tetramer. (5) Acoramidis was approved by the FDA in 2024 for wild-type and hereditary ATTR patients with cardiomyopathy. The drug is administered orally, twice per day.

Tafamidis binds to the TTR and stabilizes the TTR tetramer, thus slowing misfolding and inhibiting the formation of amyloid fibrils. (4) Tafamidis was FDA approved in 2019 for wild-type and hereditary ATTR patients with cardiomyopathy. The drug is administered orally, once per day.

Diflunisal is a non-steroid anti-inflammatory (NSAID) drug, primarily used to treat pain associated with arthritis, but can be used “off-brand” as a TTR stabilizer.  A study proved that diflunisal prevented amyloid fibril formation by tying TTR binding sites in a similar manner to tafamidis. Diflunisal has been shown to halt disease progression and improve quality of life. (3)

Silencers

In the case of hereditary amyloidosis, TTR silencer therapy aims to prevent destabilization of TTR by silencing errant “messenger RNA” signals. There are multiple silencing therapies available, including patisiran,vutrisiran, inotersen, and eplontersen.

An illustration of the silencing process associated with vutisiran is shown below. The process utilizes small interfering RNAs (siRNA) which results in a single stranded RNA which cleaves the messenger RNA, thus destroying it. (7)(8)

 

Vutisiran is a newer version of patisiran. It is given as an injection once every three months and must be administered at a healthcare facility. Vutisiran is currently FDA approved for ATTR with polyneuropathy, however, recent clinical trial results show promising data associated with treatment of cardiomyopathy.

Eplontersen is a newer version of inotersen and is FDA approved for polyneuropathy. It can be self-administered monthly via an auto-injector at home. A clinical trial for its use in the treatment of cardiomyopathy is ongoing.

Since TTR proteins serve to transport retinol, a vitamin A supplement must be prescribed to patients using silencer therapy.

Depleters

Also known as antibody therapies, there are a number of treatments currently under development that are designed to remove amyloid that has been deposited in bodily organs and tissue, including

ALXN-2220, AT02, NNC6019.

For example, ALXN-2220 is an investigational antibody that incorporates a fundamental mechanism of the human immune system. The ALXN-2220 antibody specifically targets insoluble ATTR fibrils, eliminating ATTR by activating immune cells which ingest and destroy cellular debris. (6)

Gene Editors

In the field of genome engineering, the term “CRISPR” is often used loosely to refer to the various systems that can be programmed to target specific stretches of genetic code and to edit DNA at precise locations. With this system, genes in living cells are permanently modified, allowing for the correction of mutations at precise locations in the human genome. (9)

CRISPR NTLA-2001 is a form of gene editing, currently in clinical trial, that is designed to edit mutated DNA associated with hereditary amyloidosis. This therapy would be a one-time treatment to remove the area of the DNA with the mutation in the liver cells producing the TTR.

… And More

Looking ahead, research of new treatments is active and exciting. The future looks brighter than ever for ATTR patients!

For further information on this paper’s subject matter, please view:

ATTR Amyloidosis Treatments: Stabilizers and Silencers

CRISPR/Cas9 – Editing the Code of Life

 

 

Bibliography

  1. Sperry, Brett, “Expert Insights Into Amyloidosis, ATTR Amyloidosis Treatments: Stabilizers and Silencers,” Amyloidosis Speakers Bureau, 2024. https://drive.google.com/file/d/1qoAETBYDjDj3zHzxqqxHvAfoq1sfiuEd/view
  1. “Protein Biosynthesis” https://www.sciencedirect.com/topics/biochemistry-genetics-and-molecular-biology/protein-biosynthesis
  1. Morfino, P., Aimo, A., Vergaro, G., Sanguinetti, C., Castiglione, V., Franzini, M., Perrone, M. A., & Emdin, M. (2023). Transthyretin stabilizers and seeding inhibitors as therapies for amyloid transthyretin cardiomyopathy. Pharmaceutics, 15(4), 1129. https://doi.org/10.3390/pharmaceutics15041129
  1. Coelho, T., Merlini, G., Bulawa, C. E., Fleming, J. A., Judge, D. P., Kelly, J. W., Maurer, M. S., Planté-Bordeneuve, V., Labaudinière, R., Mundayat, R., Riley, S., Lombardo, I., & Huertas, P. (2016, June). Mechanism of action and clinical application of Tafamidis in hereditary transthyretin amyloidosis. Neurology and therapy. https://pmc.ncbi.nlm.nih.gov/articles/PMC4919130/
  1. National Institutes of Health. (n.d.). DailyMed – ATTRUBY- acoramidis hydrochloride tablet, film coated. U.S. National Library of Medicine. https://dailymed.nlm.nih.gov/dailymed/drugInfo.cfm?setid=913552ef-875d-4cb7-bf05-a7d20a394c38
  1. Michalon, A., Renaud, L., Machacek, M., Cortijo, C., Udata, C., Mercuri, M. F., Buller, F., Hock, C., Nitsch, R. M., Kahr, P. C., & Grimm, J. (2024). Prediction of Cardiac ATTR Depletion by NI006 (ALXN2220) Using Mechanistic PK/PD Modeling. Clinical Pharmacology and Therapeutics, 117(1), 261. https://doi.org/10.1002/cpt.3455
  1. “What Is RNAi – RNAi Biology.” UMass Chan Medical School, 7 Jan. 2022, umassmed.edu/rti/biology/rna/how-rnai-works/.
  1. “RNAi Therapeutics: How RNA Interference Works: Alnylam® Pharmaceuticals.” RNAi Therapeutics | How RNA Interference Works | Alnylam® Pharmaceuticals, alnylam.com/our-science/the-science-of-rnai
  1. Questions and answers about CRISPR. @broadinstitute. (2014, December 17). https://www.broadinstitute.org/what-broad/areas-focus/project-spotlight/questions-and-answers-about-crispr

Overview of Amyloidosis for Patients

In this video “Amyloidosis Awareness” from the Amyloidosis Support Groups, narrated by Michael York you’ll hear a brief yet comprehensive overview of amyloidosis designed specifically for patients. It discusses what amyloidosis is, the wide range of symptoms, and which organs are typically involved. It focuses on the most common types, AL (light chain) and TTR (transthyretin), and summarizes the kinds of treatments that are currently available.

 

ATTR Amyloidosis Treatments: Stabilizers and Silencers

Dr. Brett Sperry, cardiologist and director of the Cardiac Amyloidosis Program at Saint Luke’s Mid America Heart Institute, provides an excellent overview of FDA-approved ATTR amyloidosis treatments. He goes into detail about the biology behind silencers and stabilizers and exactly how they impair amyloidosis progression. In addition, he previews the future, summarizing new categories of drugs on the horizon.

Update: In November, 2024 the FDA approved Attruby (Acoramidis) for ATTR-CM (wild-type and hereditary/variant).

The future is indeed exciting!

AL Amyloidosis: The Past, Present, and Future

Dr. Morie Gertz, professor of medicine at the Mayo Clinic in Rochester and world renowned expert in amyloidosis, shares his views on the past, present, and future treatments of AL (light chain) amyloidosis. Over his four decades of experience with this disease, he has diagnosed and treated thousands of patients, advanced research, and managed countless clinical trials. This makes him the perfect professor to orate on the dramatic evolution of treating this historically devastating disease to the optimism of today, and the breakthrough world of tomorrow. This is a must-watch video from a legendary expert.

Orthopedic Manifestations in Amyloidosis

Dr. Mazen Hanna, cardiologist at the Cleveland Clinic and co-director of the Amyloid Program, discusses orthopedic manifestations in amyloidosis. Increasingly, such manifestations are known to be associated with multiple orthopedic pathologies and recognized as a missed opportunity for earlier diagnosis of transthyretin (ATTR) amyloidosis. He recounts the development of a pioneering study connecting carpal tunnel release surgery and amyloidosis. Dr. Hanna concludes this presentation with patient cases and the importance of biopsying tenosynovial tissue from CTR surgery; it’s easy, quick, and inexpensive.

Humanizing Medical Education: Beyond Bullet Points

The content of medical education is appropriately clinically centered. The delivery of this content remains relatively unchanged over the decades – typically taught by medical professionals through lectures, PowerPoint presentations, and patient case studies. We posit that there is an essential missing component: the patient voice. During the didactic years, medical students rarely hear from patients about their symptoms, diagnostic journey, emotional management, support and resources, and relationship with the medical community. By humanizing medical didactic education, patient insights can offer an impactful and durable education that complements traditional didactics, developing what we believe will be better and more empathetic future medical practitioners.

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