England’s National Institute for Health and Care Excellence (NICE) has issued a draft guidance recommending Amvuttra (vutrisiran) be available through the country’s National Health Service (NHS) for treating familial amyloid polyneuropathy (FAP). Amvuttra is one of the first rare disease treatments to get the green light from NICE…
Eye involvement can become common over time in people with hereditary transthyretin amyloidosis (hATTR), a group of disorders that includes familial amyloid polyneuropathy (FAP), a study from Spain reported. Researchers also noted that symptoms affecting the eyes are often slower to develop than others due to this disease. As…
An elderly man in Germany was found to carry one copy of a new mutation in the TTR gene that caused both neurological and heart symptoms of familial amyloid polyneuropathy (FAP), which were described in a recent case report. The man’s case calls for “careful molecular genetic analysis and…
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…