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ATTRV30M amyloidosis

MONDO:0100552

A 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

38 clinical trials for this condition and its sub-types.

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Broader categories

Disease (618) Nervous system disorder (217) Metabolic disease (215) Hereditary disease (172) Amyloidosis (107) Peripheral nervous system disorder (107) Neuromuscular disease (98) Peripheral neuropathy (90) Familial amyloid neuropathy (44) Inborn errors of metabolism (42)
Trials to join now! 25 Not yet recruiting 4 Not yet finished but already full! 3 Completed 6
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