Hereditary amyloidosis
MONDO:0018634Hereditary amyloidosis refers to a group of inherited conditions that make up one of the subtypes of amyloidosis. Hereditary amyloidosisis characterized by the deposit of an abnormal protein called amyloid in multiple organs of the body where it should not be, which causes disruption of organ tissue structure and function. In hereditary amyloidosis, amyloid deposits most often occur in tissues of the heart, kidneys, and nervous system. While symptoms of hereditary amyloidosis may appear in childhood, most individuals do not experience symptoms until adulthood. There are many types of hereditary amyloidosis associated with different gene mutations and abnormal proteins. The most common type of hereditary amyloidosis is transthyretin amyloidosis (ATTR),a condition in which the amyloid deposits are most often made up of the transthyretin protein which is made in the liver. Other examplesof hereditary amyloidosis include, but are not limited to, apolipoprotein AI amyloidosis (A ApoAI), gelsolin amyloidosis (A Gel), lysozyme amyloidosis (A Lys), cystatin C amyloidosis (A Cys), fibrinogen Aα-chain amyloidosis (A Fib), and apolipoprotein AII amyloidosis (A ApoAII). Most types of hereditary amyloidosis are inherited in an autosomal dominant manner. Treatment is focused on addressing symptoms of organ damage and slowing down the production of amyloid when possible through methods such as liver transplants.
Also known as: amyloidosis, Familial, hereditary amyloidosis (disease), amyloidosis hereditary, familial amyloidosis
77 clinical trials for this condition and its sub-types.
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Broader categories
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Experimental drug aims to curb brain bleeds in rare genetic disease
Disease control OngoingThis study tests an experimental drug, NPI-001 (AT-001), in people with hereditary cystatin C amyloid angiopathy (HCCAA), a rare genetic condition that causes repeated brain bleeding and stroke. The trial includes about 15 participants aged 12 and older who carry the specific L68…
Phase: PHASE2 • Sponsor: Arctic Therapeutics • Aim: Disease control
Last updated Jul 23, 2026 00:00 UTC
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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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Could flickering lights and tones help fight Alzheimer's? major trial underway
Disease control OngoingThis study tests a device that delivers specific light and sound patterns to the brain, aiming to slow the progression of mild-to-moderate Alzheimer's disease. About 670 participants will use the device at home for an hour daily over a year, with half receiving a sham (inactive) …
Phase: NA • Sponsor: Cognito Therapeutics, Inc. • Aim: Disease control
Last updated Jun 27, 2026 12:29 UTC
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Can deep sleep or nerve stimulation flush toxic proteins from the brain?
Disease control ENROLLING_BY_INVITATIONThis Phase 2 trial tests whether a sleep-deepening drug (lower-sodium oxybate) or a nerve-stimulating device (non-invasive vagus nerve stimulation), or both, can help clear amyloid-beta protein from the brain in people with cerebral amyloid angiopathy (CAA). Sixty participants wi…
Phase: PHASE2 • Sponsor: Leiden University Medical Center • Aim: Disease control
Last updated Jun 27, 2026 09:07 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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Could sound waves help Alzheimer's drugs work better?
Disease control OngoingThis study tests whether using focused ultrasound to temporarily open the blood-brain barrier can safely help standard antibody therapy reach the brain in people with mild Alzheimer's or mild cognitive impairment. About 15 participants will receive the combined treatment. The goa…
Phase: EARLY_PHASE1 • Sponsor: Ali Rezai • Aim: Disease control
Last updated Jun 27, 2026 08:12 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
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Monthly MRI reveals hidden brain bleeding patterns in elderly
Knowledge-focused OngoingThis study uses monthly MRI scans to closely watch brain changes in 75 people with cerebral amyloid angiopathy (CAA), a condition common in older adults that can cause bleeding and strokes. Researchers aim to understand how small bleeds and silent strokes develop over time. Parti…
Sponsor: Martin Dichgans • Aim: Knowledge-focused
Last updated Jun 26, 2026 16:35 UTC