First Set of Recommendations Advocating for the Holistic Care of People Living with hATTR Amyloidosis Developed by International Panel of Patient Advocates and Healthcare Professionals
Alnylam Pharmaceuticals, Inc. (Nasdaq: ALNY), the leading RNAi therapeutics company, today announced the first-ever recommendations for patient- and family-centred holistic care for people living with hereditary transthyretin-mediated amyloidosis, also known as hATTR or ATTRv*. The recommendations, published in the BMJ Open,1 were developed by an expert panel of patient advocates and healthcare professionals (HCPs), the Primary Consensus Panel, and endorsed by an International Delphi Survey. They are the first to recognise the value of the patient community in advocating for the needs of people affected by this rare disease and call for a major shift in the current approach to its management.
Within the recommendations, the panel calls for early diagnosis, treatment initiation, and coordinated multidisciplinary care, as well as open dialogue between HCPs and patients to support shared decision-making and consistent monitoring of disease progression. The recommendations also highlight the importance of a tailored family-centred care plan inclusive of supportive care to enable patients to preserve their independence and quality of life.
“hATTR amyloidosis is an inherited, progressively debilitating, and often fatal multisystem disease. Its complexity and severity mean every aspect of a person’s life is affected,” said Dr. Laura Obici, Primary Consensus Panel Co-Chair and Internist at the Amyloidosis Research and Treatment Center, IRCCS Fondazione Policlinico San Matteo, Pavia, Italy. “These recommendations provide healthcare professionals with a new blueprint for care that can potentially have a significant impact on a patient's quality of life. We must start to think beyond treating a patient’s symptoms to other allied healthcare services that can help with the physical, psychological, social, and spiritual aspects of living with this disease.”
With support from Alnylam, the panel developed 50 recommendations that were tested via a robust International Delphi Survey of 122 HCPs and patient advocacy group representatives from 27 countries. The international HCP-patient advocacy community endorsed 98% of the recommendations, which focussed on seven core areas aimed to improve patient care: early diagnosis and access to treatment, disease monitoring and organisation of care, maintenance of physical and mental health, family-centred care and caregiver support, patient-HCP dialogue and shared decision-making, access to community social support, and spiritual support and social networking.
“The outlook for those in my family with hATTR amyloidosis who went before me, including my aunt, cousin, and father, used to be hopeless and dire. I am so proud to have contributed to the development of these recommendations so that they reflect not only my experience as someone living with the condition, but those of the broader patient community,” said Rosaline Callaghan, Primary Consensus Panel Co-Chair and founder of Amyloidosis Ireland, the patient advocacy group for the 32 counties of Ireland. “These recommendations underscore the importance of more robust holistic care plans to bring us one step closer to ensuring people living with hATTR amyloidosis are empowered to live life to the fullest.”
In addition to testing the level of agreement for each recommendation, the survey asked voters to assess the current degree of implementation of each recommendation in their institution or practice. Most HCPs considered certain recommendations on early diagnosis and intervention, genetic counselling and testing, nutritional support, and tailored care provided at specialist centres to be part of standard practice. However, the majority of recommendations were considered achievable with currently available resources, and many were assessed to be attainable only with further funding and reorganisation of care. The findings highlight the need for further discussion and guidance on how to develop services to address the complex needs of those affected by this rare disease.
“We welcome the publication of these recommendations that offer a roadmap for supporting people affected by hATTR amyloidosis, including their families and carers,” said Claudia Cravesana, Interim Head of International Medical Affairs, Alnylam. “Collaboration from all parts of the community will be key to further improve clinical practice. Alnylam is fully committed to supporting these efforts and working with healthcare professionals and patient advocates to accelerate a more holistic approach to patient care.”
This study, and its resultant presentations and publications, were funded by Alnylam Pharmaceuticals. Medical writing support was provided by Lumanity, a medical communications agency.
*Variant transthyretin amyloidosis (ATTRv) is an autosomal dominant inherited disease, where the mutation of the transthyretin gene (TTR) results in the deposition of pathogenic protein fibrils in various tissues.2
About the Primary Consensus Panel, Recommendations, and Methodology
The Primary Consensus Panel is a joint patient and healthcare professional collaborative forum, established in 2020 to develop these consensus recommendations and advocate for improved standards of holistic care in hATTR amyloidosis. The panel consists of 14 multidisciplinary members from eight countries representative of patients, patient advocacy groups (PAGs), key clinical specialties (neurology, cardiology, physiotherapy, psychology, nutrition, and nursing), and industry (Alnylam).
The aims of the recommendations were to: minimise delays in diagnosis and treatment initiation in symptomatic patients; promote collaborative and coordinated multidisciplinary care; ensure tailored support according to the needs of each patient; advocate for family-centred care and caregiver support; foster an open and honest dialogue to support shared decision-making; help patients preserve independence through maintenance of physical health and financial and social support; and encourage community programmes for patients and families to promote acceptance, build resilience and support well-being.
A modified Delphi methodology which included the following three steps was used for this study: (1) formation of a Primary Consensus Panel for the origination and agreement of draft recommendations using anonymised online voting (Voting round 1); (2) anonymised online voting on translated draft recommendations from the wider international clinical and advocacy community (Voting round 2); (3) discussion and modification of recommendations by Primary Consensus Panel for final vote by the international panel if consensus was not reached (Voting round 3). The aim was to achieve consensus on recommendations for the holistic care of people with hATTR amyloidosis.3
About hATTR Amyloidosis
Hereditary transthyretin-mediated (hATTR) amyloidosis is an inherited, progressively debilitating, and fatal disease caused by variants (i.e., mutations) in the TTR gene. TTR protein is primarily produced in the liver and is normally a carrier of vitamin A and thyroxin. Variants in the TTR gene cause abnormal amyloid proteins to accumulate and damage body organs and tissue, such as the peripheral nerves and heart, resulting in intractable peripheral sensory-motor neuropathy, autonomic neuropathy, and/or cardiomyopathy, as well as other disease manifestations. hATTR amyloidosis represents a major unmet medical need with significant morbidity and mortality affecting approximately 50,000 people worldwide. The median survival is 4.7 years following diagnosis, with a reduced survival (3.4 years) for patients presenting with cardiomyopathy.
About Alnylam Pharmaceuticals
Alnylam is a biopharma company leading the translation of RNA interference (RNAi) into a whole new class of innovative medicines with the potential to transform the lives of people afflicted with rare genetic, cardio-metabolic, hepatic infectious, and central nervous system (CNS)/ocular diseases. Based on Nobel Prize-winning science, RNAi therapeutics represent a powerful, clinically validated approach for the treatment of a wide range of severe and debilitating diseases. Founded in 2002, Alnylam is delivering on a bold vision to turn scientific possibility into reality, with a robust RNAi therapeutics platform. Alnylam is headquartered in Cambridge, MA.
1 Obici L, Callaghan R, Ablett J, et al. Consensus Recommendations on Holistic Care in Hereditary ATTR Amyloidosis: An International Delphi Survey of Patient Advocates and Multidisciplinary Healthcare Professionals. BMJ Open 2023;0:e073130. doi:10.1136/bmjopen-2023-073130
2 Pozsonyi, Z. et al. Variant Transthyretin Amyloidosis (ATTRv) in Hungary: First Data on Epidemiology and Clinical Features. Genes. 2021; 8:1152
3 Niederberger M, et al. Delphi Technique in Health Sciences: A Map. Frontiers in Public Health. 2020; 8:457
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