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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Can a daily pill keep a rare heart disease in check for the long haul?
Disease control Not yet recruitingThis study tests the long-term safety and tolerability of acoramidis, an oral medication that stabilizes the transthyretin protein, in people newly diagnosed with transthyretin amyloid cardiomyopathy (ATTR-CM), a condition that can lead to heart failure. Participants who complete…
Phase: PHASE3 • Sponsor: Eidos Therapeutics, a BridgeBio company • Aim: Disease control
Last updated Aug 13, 2026 00:00 UTC
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New scan spots hidden heart disease in gene carriers before symptoms start
Diagnosis Not yet recruitingThis study aims to see if a new radioactive dye can detect early signs of a heart condition called amyloidosis in people who carry a TTR gene mutation but have no heart failure symptoms. About 80 adults aged 30-80 will receive an injection of the dye and then have a PET/CT scan t…
Sponsor: University of Texas Southwestern Medical Center • Aim: Diagnosis
Last updated Jun 27, 2026 12:35 UTC
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AI spots heart clues in bone scans: a new way to catch a silent killer?
Diagnosis Not yet recruitingThis study tests whether a computer model can find signs of a heart condition called cardiac amyloidosis in bone scans that were done for other reasons. Researchers will look back at 57 patients' scans to see if the model can correctly identify those with the disease. If it works…
Sponsor: University Hospital, Lille • Aim: Diagnosis
Last updated Jun 27, 2026 12:33 UTC
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New PET scan could spot hidden heart disease
Diagnosis Not yet recruitingThis study tests whether a special PET-CT scan using a drug called evuzamitide can detect signs of cardiac amyloidosis in people whose standard heart scans were unclear but who have high levels of a blood marker called TAD1. About 25 adults with heart failure or a genetic risk fo…
Sponsor: Lorena Saelices • Aim: Diagnosis
Last updated Jun 27, 2026 12:09 UTC
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1,000 gene carriers tracked to unlock amyloidosis secrets
Knowledge-focused Not yet recruitingThis study is a registry that will collect health information from 1,000 people who carry the gene for hereditary amyloidosis, including those with and without symptoms. Researchers will track who develops the disease and how it progresses, including the need for heart transplant…
Sponsor: Virginia Commonwealth University • Aim: Knowledge-focused
Last updated Aug 14, 2026 00:00 UTC
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New study tracks safety of eplontersen in patients with liver transplants
Knowledge-focused Not yet recruitingThis observational study monitors the long-term safety of eplontersen, a treatment for transthyretin amyloidosis, in patients who have had a liver transplant or have severe liver impairment. Researchers will track side effects, lab changes, and serious health events in about 320 …
Sponsor: AstraZeneca • Aim: Knowledge-focused
Last updated Jun 27, 2026 14:00 UTC