Quantitative sensory testing (QST), a tool for monitoring nerve function, may help to detect problems in small nerve fibers in people with late-onset familial amyloid polyneuropathy (FAP) before symptoms start, a small study suggested. Adults with disease-causing mutations for late-onset FAP but no disease symptoms had more abnormal responses…
Alnylam Pharmaceuticals has submitted an application to the U.S. Food and Drug Administration (FDA) asking the agency to approve Onpattro (patisiran) for the treatment of transthyretin-mediated (ATTR) amyloidosis with cardiomyopathy. Onpattro already is approved to treat familial amyloid polyneuropathy (FAP), a genetic disorder in which toxic tangles…
A surgical procedure called suture trabeculotomy (SLOT) ab interno successfully treated glaucoma in nearly half of the eyes of familial amyloid polyneuropathy (FAP) patients treated in a Japanese study, although its effectiveness declined over several years. Eight patients required additional surgery to help treat their glaucoma, a condition marked by…
Novo Nordisk is moving forward on a global Phase 2 clinical trial evaluating its experimental treatment NNC6019 in people with hereditary transthyretin amyloidosis (ATTR) affecting the heart. The company’s ATTR amyloidosis research program, recently acquired from Prothena, also includes NNC6019 as a treatment for familial amyloid…
Glu89Lys, a rare gene mutation that can cause familial amyloid polyneuropathy (FAP) — and is associated with early onset disease and a mix of cardiac, neurological, and eye problems — was found to be endemic in Spain, a recent study reported. Researchers conducted a DNA analysis of seven families…
One-time treatment with the experimental gene-editing therapy NTLA-2001 led to substantial reductions in the levels of toxic transthyretin protein that were sustained for several months in people with ATTR amyloidosis with cardiomyopathy (ATTR-CM). That is according to data shared by NTLA-2001’s co-developer, Intellia Therapeutics, at the American Heart Association…
Alnylam Pharmaceuticals will not conduct an interim analysis of its Phase 3 clinical trial testing Amvuttra (vutrisiran) in people with a form of heart disease called transthyretin-mediated (ATTR) amyloidosis with cardiomyopathy. Instead, the company will wait for the initial findings of final analyses of key safety…
Familial amyloid polyneuropathy (FAP) patients who carry the Val30Met mutation may experience central nervous system involvement early in the disease course, likely before symptoms are noticeable, according to a small study. Involvement of the central nervous system (CNS, the brain and spinal cord) follows a three-stage progression, its researchers…
Older age and worse disease were significantly associated with cognitive impairments in people with familial amyloid polyneuropathy (FAP) who underwent a liver transplant, a large study suggested. Researchers noted these cognitive findings are consistent with the natural history of the disease. “No distinct pattern was found for…
A woman with familial amyloid polyneuropathy (FAP) developed a type of kidney disease called focal segmental glomerulosclerosis — characterized by scarring in the kidneys — several months after starting treatment with Tegsedi (inotersen), according to a recent case report. Once the patient stopped taking Tegsedi, the kidney…