ATTRV30M amyloidosis

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

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