ATTRV30M amyloidosis
MONDO:0100552A rare hereditary ATTR amyloidosis (hATTR) characterized by a progressive, length-dependent sensorimotor axonal polyneuropathy and/or autonomic neuropathy in adulthood. Renal, ocular and cardiac involvement also frequently occurs. Two different phenotypes are associated with this mutation, namely early-onset V30M and late-onset V30M, that differ in terms of age on onset (<50 years or >50 years, respectively), presenting features, histopathological characteristics, rate of disease progression and response to therapy.
Also known as: ATTRV30M-related amyloidosis, hereditary ATTRV30M-related amyloidosis, TTR amyloid neuropathyy, amyloidosis transthyretin related, familial amyloid polyneuropathy type I, familial amyloid polyneuropathy, Portuguese-Swedish-Japanese type, transthyretin amyloid neuropathy, transthyretin amyloid polyneuropathy
13 clinical trials for this condition and its sub-types, 4 tagged with ATTRV30M amyloidosis itself.
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Spine surgery samples could reveal silent heart disease
Diagnosis Recruiting nowThis study looks at tissue removed during back surgery to find early signs of a heart condition called ATTR cardiac amyloidosis. Researchers will test spine samples from 1,663 older adults for abnormal protein deposits. If found, participants will get further heart tests to confi…
Sponsor: Columbia University • Aim: Diagnosis
Last updated Jun 27, 2026 13:02 UTC
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New drug aims to stop rare genetic disease before it strikes
Prevention Recruiting nowThis phase 3 trial tests whether acoramidis can prevent or delay transthyretin amyloidosis (ATTR) in 587 adults who carry a faulty gene but have no symptoms yet. ATTR causes sticky plaques to build up in the heart and nerves, leading to heart failure and nerve damage. Acoramidis …
Phase 3 • Sponsor: Eidos Therapeutics, a BridgeBio company • Aim: Prevention
Last updated Aug 06, 2026 00:00 UTC
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Rare gene variant under the microscope: new study aims to map disease patterns
Knowledge-focused Recruiting nowThis study looks at 57 people aged 20 to 70 who carry the Val50Met gene variant linked to hereditary ATTR amyloidosis, a condition that can damage nerves and the heart. Researchers want to describe the different symptoms people experience, such as heart problems, nerve issues, or…
Sponsor: Hospital 9 de Julio de Las Breñas • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:03 UTC
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Blood particles may reveal hidden heart disease
Knowledge-focused Recruiting nowThis study looks at whether tiny particles released by cells into the blood, called extracellular vesicles, can help detect a type of heart disease called ATTR amyloidosis earlier. The disease often goes unnoticed until serious damage occurs. Researchers will compare these partic…
Sponsor: University of Sao Paulo General Hospital • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:08 UTC