Hereditary ATTR Amyloidosis

ARC Research Roundtable Report

This white paper summarizes advancements in the field, key challenges, and consensus priorities for the amyloidosis research community that were identified and discussed by attendees of the 2024 ARC Research Roundtable Meeting. The information presented in this paper represents the opinions and outlooks of the global amyloidosis experts.

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Understanding Living with Amyloidosis: Insights from the ARC Annual Community Survey

Sabrina Rebello, ARC's Senior Research Manager, presented an in-depth overview of key insights from our Annual Community Survey. This webinar focused on understanding the experiences of patients and caregivers throughout their diagnostic journey and ongoing care.

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Reliability and validity of the Transthyretin Amyloidosis – Quality of Life (ATTR-QOL) Questionnaire impact scales

Lovley, A., Hsu, K., LaGasse, K. et al. Reliability and validity of the Transthyretin Amyloidosis – Quality of Life (ATTR-QOL) Questionnaire impact scales. J Patient Rep Outcomes 9, 44 (2025). https://doi.org/10.1186/s41687-025-00880-7

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Emotional Aspects of Amyloidosis

Dr. Meghan Beier, psychologist at the Rowan Center for Behavioral Medicine, explored the emotional aspects of amyloidosis. She discussed mental health issues in amyloidosis and present strategies for coping.

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Development of Imaging Endpoints for Clinical Trials in AL and ATTR Amyloidosis: Proceedings of the Amyloidosis Forum

Dorbala, S, Adigun, R, Alexander, K. et al. Development of Imaging Endpoints for Clinical Trials in AL and ATTR Amyloidosis: Proceedings of the Amyloidosis Forum. J Am Coll Cardiol Img. null2025, 0 (0) . https://doi.org/10.1016/j.jcmg.2024.11.003

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Amyloidosis 101

Dr. Sarah Cuddy, cardiologist at Brigham and Women's Hospital, explored the basics of amyloidosis. She presented an introduction to amyloidosis, the different types, and the available treatments. The webinar concluded with a Q&A session.

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Factors associated with financial toxicity in patients with transthyretin amyloidosis: results from Amyloidosis Research Consortium’s treatment affordability patient and caregiver survey

Rebello, S., Hsu, K., Nativi-Nicolau, J., Karam, C., Grogan, M., Lousada, I., & Maurer, M. S. (2025). Factors associated with financial toxicity in patients with transthyretin amyloidosis: results from Amyloidosis Research Consortium’s treatment affordability patient and caregiver survey. Amyloid, 1–10. https://doi.org/10.1080/13506129.2025.2462541

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Hereditary ATTR Amyloidosis

Clinical Trial Updates for the ATTR Community

ARC Executive Director of Research Kristen Hsu presented the most current updates for the clinical trial landscape, with a focus on ATTR amyloidosis. Kristen will discussed the direction of future research. The webinar concluded with a Q&A session.

Webinars

Coffee Chat with ARC

To wrap up 2024, this month’s ARC Talks Webinar consisted of a conversation with ARC staff. We shared highlights from 2024, started to look ahead to 2025, and answered your questions about the work we do for the amyloidosis community.

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Caring for the Caregiver

In honor of National Family Caregivers Month, ARC hosted a discussion between Debra Ruehlman, amyloidosis family caregiver, and Ann Payne, MSW, ARC Clinical Care and Education Manager. This webinar explored topics such as self care, self advocacy, and community resources.

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Medicare and the Evolving Financial Landscape

Covering information on Medicare basics, choosing a Part D plan, and coverage gaps, ARC was joined by Sylvia Gary from the Centers for Medicare and Medicaid Services (CMS).

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Understanding Genetics in Hereditary ATTR Amyloidosis

There are over 120 different mutations that have been identified in the TTR gene and as research continues, it is possible that more may be discovered. Each mutation causes a different pattern of disease onset, symptoms and outlook.

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GI Disturbances and Symptom Management

Dr. Sara Horst discussed how amyloidosis can impact the gastrointestinal tract, GI symptoms, and symptom management.

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Clinical Trial Updates for the ATTR Community

ARC's own Kristen Hsu presented the most current updates for the clinical trial landscape, with a focus on ATTR amyloidosis.

Webinars

Physical Therapy for Amyloidosis Management

Physical therapists Kelsi Schiltz, and Katie Johnson provided recommendations for managing neuropathy symptoms.

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Visualizing Amyloidosis: The Role of Imaging

Dr. Sharmila Dorbala explained the role that medical imaging techniques play in both diagnosing and managing amyloidosis.

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Devices for Heart Improvement

Amyloidosis cardiologist, Dr. Mazen Hanna discusses the function of implantable, electronic devices in cardiac management of amyloidosis patients.

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An ARC Fireside Chat

The dedicated team behind the transformative initiatives of ARC discuss the impactful work of the Leadership, Research, Development, Communications, and Community Alliance departments.

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Navigating Care Choices at the End of Life

Jill Waldron, NP and Rebecca Kirch provide guidance on navigating care choice options for amyloidosis patients and caregivers during health decline.

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Hereditary ATTR: Dawn’s story

Dawn, a patient with hereditary ATTR amyloidosis, describes her experience as a hereditary amyloidosis caregiver and patient, experiencing the onset of symptoms, her treatment journey, and advice for others living with hATTR amyloidosis.

Hereditary ATTR Amyloidosis

Knowing Your Rights: Understanding Health insurance Coverage

Alicia Lawrence, Information and Resource Services Manager at the National Organization for Rare Disorders (NORD), discussed health insurance policies within private and government issued insurance.

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Kidney Disease Presentation in Amyloidosis

Dr. Nelson Leung focused on renal involvement in AL, AA, ALECT2 and ATTR amyloidosis, while discussing treatment and response assessments for each type.

Webinars

Cardiac and Neurological Approaches in ATTR Management

Dr. Nativi-Nicolau and Dr. Elizabeth Mauricio discussed the decision pathway in management of ATTR amyloidosis from the cardiac and neurological standpoint.

Webinars

The Fundamentals of Clinical Trials and Current Advances in Amyloidosis Research

Dr. Morie Gertz gave a 101 overview of clinical trials, including consideration in how they are designed, and the phases needed for drug development. Dr. Gertz also discussed current clinical trials that are evaluating the next generation of drugs for the treatment of AL and ATTR amyloidosis.

Webinars

Hereditary ATTR Amyloidosis: The Role of Genetic Testing and Recommendations for Genetic Carriers

Cardiologist Dr. Ahmad Masri MD, MS and genetic counselor Emily Brown, MGC, CGC discuss the role of genetic testing in hereditary ATTR amyloidosis care, along with providing disease management recommendations for genetic carriers.

Webinars

Hereditary ATTR: Sean’s story

Sean, a patient with hereditary ATTR amyloidosis, describes his journey to diagnosis. Over an agonizing seven-year journey to diagnosis, Sean received bilateral carpal tunnel surgery, a hospital trip after a dire cardiac event, and saw multiple doctors fail to diagnose his amyloidosis. In his story, Sean shares the reason he is optimistic about the future and advice he has for others living with hereditary ATTR amyloidosis or still searching for a diagnosis.

Hereditary ATTR Amyloidosis

Overview of ARC’s Research Programs and Results of the Patient Community Survey

Kristen Hsu, Executive Director of Research, and Sabrina Rebello, Research Manager, provide an overview of ARC’s research programs, share findings from our 2022 community survey results, and highlight the future direction of ARC’s research.

Webinars

Current ATTR landscape: Treatments and Trials

Amyloidosis expert Dr. John L. Berk presents the most current treatment options for ATTR amyloidosis. Dr. Berk also discusses clinical trials and future research. The webinar concludes with a Q and A session.

Hereditary ATTR Amyloidosis

Amyloidosis and Nutrition: Eating for Your Health

Briana Pineau, MS, RD, LDN, a registered dietician at Boston Medical Center, discusses the role nutrition can play in the management of amyloidosis symptoms. In addition to covering gastrointestinal involvement associated with various types of amyloidosis, Briana covers the broader health benefits of a balanced diet.

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Gastrointestinal Involvement in Amyloidosis

Many types of amyloidosis can affect patients’ gastrointestinal (GI) tract, causing painful, annoying, or even debilitating symptoms. It is common for patients with amyloidosis to experience GI involvement and in fact, some patients may have GI-related symptoms as their most predominant sign or chief complaint.

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The Heart of the Matter: Cardiac Amyloidosis

Dr. Kevin Alexander, a cardiac amyloidosis specialist from Stanford University, discusses the cardiac signs and symptoms to recognize, treatment and management options for each type of Amyloidosis and the future direction of research in the field.

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Empowering Patients: Navigating Your Care

Isabelle Lousada shares her experiences with amyloidosis and the lessons learnt on how to become an empowered and informed patient. Lisa Mendelson, nurse practitioner from Boston University’s Amyloidosis Program provides a valuable medical perspective about how to build a successful relationship with your care team. Original presentation date June 23, 2022.

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Neuropathy in Amyloidosis

Many types of amyloidosis can affect patients’ nerves, causing painful, annoying, or even debilitating symptoms. It is common for patients with amyloidosis to experience neuropathy and in fact, some patients may have nerve-related symptoms as their most predominant sign or chief complaint.

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Mental Health Matters: Caring for your Wellbeing

Rare disease mental health expert Kym Winter will equip you with the resources and tools you need to take care of your mental health. In this interactive session, you will be introduced to the Stress Bucket Approach, which is a simple way of thinking about and looking after your own - and others’ - emotional wellbeing in order to live well with the impacts of a rare disease such as amyloidosis. Original presentation date February 23, 2022

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Coffee with ARC: Learn about ARC’s work

In this ARC Talks special presentation, Coffee with ARC, some members of the ARC team will provide an overview of ARC's history and areas of focus, as well as our plans for 2022 and beyond. Original presentation date December 9, 2021

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Living Well with Amyloidosis

In amyloidosis, common symptoms such as gastrointestinal manifestations and neuropathy are often the most troublesome for patients. In our ARC Talks Webinar for patients and caregivers, amyloidosis experts from across multiple specialties explain approaches for symptom management. Our experts provide you with the knowledge you need to live well with amyloidosis. Original presentation date October 26, 2021

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The Role of Gene Editing in hATTR Amyloidosis

In this ARC Talks Webinar for patients and caregivers, Professor Julian Gillmore, the Head and Research Lead of the National Amyloidosis Centre in London, describes the role of gene editing in hereditary diseases like hATTR, and shares the early results of Intellia’s CRISPR trial. Intellia’s Head of Development for In Vivo programs, Dr. Liron Walsh, joins Professor Gillmore for a question and answer session.

Hereditary ATTR Amyloidosis

Treatment Overview: Hereditary Transthyretin Amyloidosis

We live in a time of rapid advances in genetic know-how and pharmacological technologies. The pace of discovery is accelerating, driving the development of new therapies, with 3 newly approved treatments. The exact course of hATTR varies with each patient, but the outlook holds promise for all. This booklet is designed as a comprehensive guide to help you and your family navigate treatment resources and options that would be most effective for you.

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Disease Overview: Hereditary Transthyretin Amyloidosis

Hereditary transthyretin amyloidosis (hATTR) is a rare, systemic disease passed down through families. Caused by genetic mutations in the transthyretin (TTR) gene, it leads to a buildup of abnormal proteins called amyloid in one or more organs and tissues, impairing their function. Left untreated, hATTR can cause life-threatening complications. Early diagnosis and treatment are critical to prevent or delay progression of hATTR.

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Introducción a la Enfermedad: Amiloidosis Hereditaria Por Transtierrentia

La amiloidosis hereditaria por transtiretina (hATTR) es una enfermedad sistémica poco común que se transmite de padres a hijos. Causada por mutaciones genéticas en el gen de la transtiretina (TTR), provoca una acumulación de proteínas anormales llamadas amiloide en uno o más órganos y tejidos, lo que altera su función. Si no se trata, hATTR puede causar complicaciones potencialmente mortales. El diagnóstico y el tratamiento tempranos son fundamentales para prevenir o retrasar la progresión de hATTR.

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Introducción al Tratamiento: Amiloidosis Hereditaria Por Transtierrentia

Vivimos en una época de rápidos avances en los conocimientos genéticos y las tecnologías farmacológicas. El ritmo de los descubrimientos se está acelerando, impulsando el desarrollo de nuevas terapias. El curso exacto de hATTR varía según cada paciente, pero el pronóstico es prometedor para todos. Este folleto está diseñado como una guía integral para ayudarlo a usted y a su familia a navegar por los recursos y opciones de tratamiento que serían más efectivos para usted.

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Amyloid Neuropathy Burden and Mangement

In this ARC Talks webinar, Dr. Kelsey Barrell from the University of Utah explains what causes neuropathy and other neurological symptoms in amyloidosis patients and offers suggestions to help manage these symptoms.

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Caregivers: A Guide to Self-Care

Nancy Verel, a nurse at the Cleveland Clinic, shares her story about her family's journey through her husband's AL amyloidosis diagnosis and treatment. Robert David from BMC Cancer Support Programs provides coping and support strategies for caregivers.

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Hereditary ATTR: Cece’s story

Despite having many of the "red flag" symptoms of amyloidosis, Cece still experienced a delay in diagnosis. Cece shares her story, how a genetic condition has impacted her family, and how a heart transplant changed her life.

Hereditary ATTR Amyloidosis

Physical and Occupational Therapy – Managing Your Amyloidosis

In this patient webinar, Mayo Clinic's occupational therapist Sarah Dahlhauser, OTD, OTR/L, and physical therapist Sarah Boyd, PT, DPT, discuss exercise principles for maintaining mobility and function, and home modifications for improved safety for amyloidosis patients.

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Webinar: What is Expanded Access?

This webinar covers access to innovative new therapies through expanded access programs with guest speakers Jennifer Miller, PhD, Assistant Professor at Yale University School of Medicine and Alison Bateman-House, PhD, MPH, Assistant Professor at NYU School of Medicine.

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