Our patient speakers at the Amyloidosis Speakers Bureau are powerful educators and offer compelling insights. Have a listen to this brief clip from Sean. He talks about how his PCP and those around him suggested his symptoms were all in his head, and that an appropriate next step would be to see a therapist.
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Behind the Counter, Beside the Bed: The Real World of Pharmacy
Ever wonder what truly happens after your doctor writes a prescription? In this episode of Medically Speaking, Dr. Eve Glazier sits down with oncology pharmacist Melissa Dinolfo, who devoted 42 years to pharmacy across retail, hospital, and cancer care, to reveal the unseen world of “the pharmacy behind the scenes.”
From hand-filled prescriptions to modern, evidence-driven oncology, Melissa traces the evolution of pharmacy and explains how medications move from lab to patient. She breaks down how pharmacists dose safely, navigate insurance barriers, manage side effects, and advocate for patients, and why they remain some of healthcare’s most essential partners. She also shares practical advice on how patients can work effectively with their pharmacist, ask the right questions, and make the most of their medications.
Whether you’ve picked up a prescription at a big-box pharmacy or received life-changing therapy in a hospital, this episode offers a new appreciation for the people who make your medicines possible and guidance for becoming a more empowered partner in your own care.
🎧 Tune in to learn how pharmacy really works and why pharmacists deserve a front-row seat in the conversation about your health.
Podcast Credits UCLA Health Medically Speaking with Dr. Eve Glazier
Patient Insights: My Doctor’s Persistence Kept Me Going
Our patient speakers at the Amyloidosis Speakers Bureau are powerful educators and offer compelling insights. Have a listen to this brief clip from Rayna. She talks about how her doctor’s persistence and unwillingness to give up gave her great strength to keep going.
Patient Insights: Think Beyond the Silos
Our patient speakers at the Amyloidosis Speakers Bureau are powerful educators and offer compelling insights. Have a listen to this brief clip from Robert where he talks about the need for broader coordination across specialists and how this is critical for patients with multi-systemic disease.
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.
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.
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:
Bibliography
- Sperry, Brett, “Expert Insights Into Amyloidosis, ATTR Amyloidosis Treatments: Stabilizers and Silencers,” Amyloidosis Speakers Bureau, 2024. https://drive.google.com/file/d/1qoAETBYDjDj3zHzxqqxHvAfoq1sfiuEd/view
- “Protein Biosynthesis” https://www.sciencedirect.com/topics/biochemistry-genetics-and-molecular-biology/protein-biosynthesis
- 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
- 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/
- 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
- 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
- “What Is RNAi – RNAi Biology.” UMass Chan Medical School, 7 Jan. 2022, umassmed.edu/rti/biology/rna/how-rnai-works/.
- “RNAi Therapeutics: How RNA Interference Works: Alnylam® Pharmaceuticals.” RNAi Therapeutics | How RNA Interference Works | Alnylam® Pharmaceuticals, alnylam.com/our-science/the-science-of-rnai
- 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.
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.
The Future for Patients with Transthyretin Cardiac Amyloidosis is Looking Brighter
The treatment for patients with Transthyretin Cardiac Amyloidosis has advanced significantly since 2018 when there were no FDA-approved therapies. In this presentation, Dr. Mat Maurer from Columbia University shares how diagnostic imaging techniques have significantly improved, thereby reducing the need for an invasive heart biopsy. In addition, he shares fascinating statistics on how the age and stage of diagnosis has been evolving. Based on today’s clinical trials, providers are optimistic that the expansion of options for patient care will continue.
The future is indeed looking brighter.
