New study published in the BMJ Open calls for
major shift in the management of hATTR amyloidosis
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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Alnylam Pharmaceuticals, Inc.
Emily Bunting (Media, Europe) +41 79 866 97 03
Alnylam Pharmaceuticals (NASDAQ:ALNY)
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