Changes in the nerve fibers of the cornea — the eye’s clear protective outer layer — may help in the early diagnosis of hereditary transthyretin amyloidosis (hATTR), a group of disorders that includes familial amyloid polyneuropathy (FAP), a study shows. A noninvasive imaging method, called corneal confocal microscopy (CCM), identified…
Tegsedi (inotersen) slows the progression of symptoms, particularly muscle weakness and sensation loss, in people with familial amyloid polyneuropathy (FAP), according to a post-hoc analysis of the Phase 3 NEURO-TTR trial. “These results support previous evidence demonstrating the efficacy of [Tegsedi] in this patient population,” its researchers wrote. Post-hoc analyses…
A modified surgical procedure to implant a small filtration device — called Ex-PRESS — was effective at treating glaucoma in most people with hereditary transthyretin amyloidosis (hATTR), a group of disorders that includes familial amyloid polyneuropathy (FAP), a study shows. The surgery also led to a significant drop in the…
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…
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…
Treatment with Tegsedi (inotersen) for more than three years continued to slow disease progression and improve the quality of life in people with familial amyloid polyneuropathy (FAP), according to new data from the extension study of the NEURO-TTR trial. Patients who started treatment earlier experienced greater benefits, but…
Larger studies are needed to back the use of nailfold capillaroscopy — a non-invasive technique for imaging tiny blood vessels in the fingers — for the early detection of familial amyloid polyneuropathy (FAP), a new report says. Nailfold capillaroscopy, known as NFC, allows researchers to image blood vessels…
A total of 30 patient advocacy groups working to further understanding and the needs of people living with rare diseases have been selected to receive a Horizon Therapeutics‘ #RAREis Global Advocate Grant. Winners of this year’s inaugural awards are spread across nine countries and represent a total of 29 rare…
Vutrisiran continues to show promise at lessening heart damage in adults with familial amyloid polyneuropathy (FAP) with cardiac involvement, according to exploratory new data from the ongoing Phase 3 HELIOS-A trial. Data collected over 18 months of treatment in patients with pre-existing evidence of cardiac involvement showed that vutrisiran led…