Familial amyloid neuropathy
MONDO:0007100A rare genetic systemic disease characterized by adult onset, progressive sensorimotor and autonomic neuropathy and infiltrative cardiomyopathy. Neurological involvement usually starts with sensory loss in the extremities and progresses with motor neuropathy. Cardiomyopathy presents with rhythm abnormalities and heart failure. The disease also frequently manifests with a range of additional clinical signs and symptoms due to associated ocular, renal, central nervous system and gastrointestinal involvement.
Also known as: ATTRv amyloidosis, amyloid neuropathies, familial, familial TTR-related amyloidosis, familial amyloid neuropathy, familial amyloid polyneuropathy, familial transthyretin-related amyloidosis, hATTR, hereditary TTR amyloid polyneuropathy
60 clinical trials for this condition and its sub-types.
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Broader categories
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Can a drug stop amyloid damage after a heart transplant?
Disease control OngoingThis study tests whether the drug tafamidis can safely stop the progression of ATTR amyloidosis in people who have already received a heart transplant. About 25 stable patients will take tafamidis daily for 12 months. Researchers will measure changes in blood protein levels, nerv…
Phase: PHASE4 • Sponsor: University of Texas Southwestern Medical Center • Aim: Disease control
Last updated Jun 27, 2026 13:02 UTC
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Vutrisiran shows promise for Long-Term control of rare heart condition
Disease control ENROLLING_BY_INVITATIONThis study is for people with a rare heart condition called ATTR amyloidosis with cardiomyopathy, where abnormal protein builds up in the heart. It tests the long-term safety and effectiveness of a drug called vutrisiran, given as an injection every three months. About 700 adults…
Phase: PHASE3 • Sponsor: Alnylam Pharmaceuticals • Aim: Disease control
Last updated Jun 27, 2026 09:07 UTC
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Hope for rare heart disease: new drug aims to slow deadly protein clumps
Disease control OngoingThis study tests a drug called vutrisiran in 655 adults with a rare heart condition caused by abnormal protein buildup (ATTR amyloidosis with cardiomyopathy). The drug is given as a shot every 3 months and aims to reduce deaths and heart-related hospital stays. The goal is to see…
Phase: PHASE3 • Sponsor: Alnylam Pharmaceuticals • Aim: Disease control
Last updated Jun 27, 2026 08:10 UTC
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New drug shows promise for Long-Term control of rare nerve disease
Disease control OngoingThis study looks at the long-term safety and effects of a drug called eplontersen in people with a rare inherited nerve disease called hATTR-PN. About 151 participants who completed earlier studies will receive regular injections of eplontersen. The goal is to see if the drug rem…
Phase: PHASE3 • Sponsor: Ionis Pharmaceuticals, Inc. • Aim: Disease control
Last updated Jun 27, 2026 08:01 UTC
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New training program aims to catch rare heart disease earlier
Diagnosis OngoingThis study enrolls about 4,000 adults aged 60 and older with heart failure who are at high risk for ATTR amyloidosis, a rare disease that stiffens the heart. Doctors receive special training on how to spot and diagnose the condition using standard tests. The goal is to see if thi…
Phase: NA • Sponsor: AstraZeneca • Aim: Diagnosis
Last updated Aug 09, 2026 00:00 UTC
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Simple blood test could catch hidden heart disease in seniors
Diagnosis ENROLLING_BY_INVITATIONThis study is testing a way to find cardiac amyloidosis—a rare but serious heart condition—earlier in people aged 65 and older. Researchers in Turkey will screen 800 patients at family medicine clinics using simple blood tests and medical history. The goal is to see if this appro…
Sponsor: Kotyora Family Medicine Health Management and Education Association • Aim: Diagnosis
Last updated Jun 27, 2026 09:08 UTC
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Algorithm aims to spot rare heart disease in medical records
Diagnosis TerminatedThis study aimed to test a computer algorithm that uses insurance claims data to identify people with ATTR amyloidosis, a rare disease that affects the heart and nerves. Researchers planned to check how well the algorithm worked by reviewing medical records. However, the study wa…
Phase: EARLY_PHASE1 • Sponsor: Yale University • Aim: Diagnosis
Last updated Jun 26, 2026 18:38 UTC
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Blood marker may predict nerve damage onset in rare genetic disease
Knowledge-focused OngoingThis observational study is looking at a protein called neurofilament light chain (NfL) in the blood of people who carry a gene variant for hereditary ATTR amyloidosis, both those without symptoms and those with nerve damage. Researchers want to see if NfL levels can help detect …
Sponsor: Alnylam Pharmaceuticals • Aim: Knowledge-focused
Last updated Aug 14, 2026 00:00 UTC
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Gene Editing's lasting impact: a Long-Term look at NTLA-2001
Knowledge-focused ENROLLING_BY_INVITATIONThis study follows people who previously received NTLA-2001, an experimental gene-editing therapy, for a type of amyloidosis that can affect nerves or the heart. The goal is to monitor long-term safety and see if the therapy's effects on disease markers persist over time. Partici…
Sponsor: Intellia Therapeutics • Aim: Knowledge-focused
Last updated Aug 05, 2026 00:00 UTC
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New study tracks Real-World safety of TEGSEDI for rare nerve disease
Knowledge-focused OngoingThis study follows 240 patients with hereditary transthyretin amyloidosis with polyneuropathy (hATTR-PN) to monitor the long-term safety of the drug TEGSEDI. Researchers will compare patients who have taken TEGSEDI with those who have not, focusing on side effects like low platel…
Sponsor: Akcea Therapeutics • Aim: Knowledge-focused
Last updated Jul 31, 2026 00:00 UTC
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Heart check: do Nerve-Targeting drugs also shield the heart in rare amyloidosis?
Knowledge-focused OngoingThis study follows 20 adults with hereditary transthyretin amyloidosis (ATTRv) who have both nerve and heart involvement. They are treated with patisiran or vutrisiran for two years. Researchers use MRI scans and questionnaires to see how the drugs affect heart structure and func…
Sponsor: Rennes University Hospital • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:08 UTC