The U.S. Food and Drug Administration (FDA) has granted fast track designation to Alnylam Pharmaceuticals’ vutrisiran as a potential treatment of adults with familial amyloid polyneuropathy (FAP). Fast track is intended to accelerate the development and review of investigational therapies aimed at treating serious or life-threatening conditions, and…
Sudoscan, a device that evaluates sweat gland function, may help physicians improve the diagnosis of familial amyloid polyneuropathy — distinguishing these patients from those with chronic inflammatory demyelinating polyneuropathy, a study says. The study, “Quantitative sudomotor test helps differentiate Transthyretin familial amyloid polyneuropathy from Chronic…
Levels of neurofilament light chain (NfL) — a proposed biomarker of several neurological disorders — are significantly higher in people with familial amyloid polyneuropathy (FAP) who show symptoms, compared to those who are asymptomatic or healthy, a study reported.
First, the bad news: If you’re one of the 30 million or so Americans with a rare disease, you probably have lower immunity to the novel coronavirus than most people. Now, the good news: You already know how to face loneliness and adversity — qualities that make you far stronger…
The Living Rare, Living Stronger Patient and Family Forum, originally set for May 14–16 in Cleveland, Ohio, has been postponed until July 18–20 because of the coronavirus disease COVID-19 pandemic. The event’s sponsor, the National Organization for Rare Disorders (NORD),…
Even with the coronavirus pandemic ravaging Europe and much of the world, patient advocate Lucia Monaco, PhD, of Italy remains confident that the Paris-based nonprofit she chairs will see the approval of 1,000 new rare disease therapies by 2027. That group, the International Rare Diseases Research Consortium (IRDiRC) —…
Long-term treatment with Vyndaqel (tafamidis) may reduce the risk of death in people with familial amyloid polyneuropathy (FAP), a study shows. The study, “Evaluation of Mortality During Long-Term Treatment with Tafamidis for Transthyretin Amyloidosis with Polyneuropathy: Clinical Trial Results up to 8.5 Years,” were…
The progressive nature of hereditary transthyretin amyloidosis polyneuropathy (hATTR-PN), also known as familial amyloid polyneuropathy (FAP), limits patients’ health-related quality of life across all measures, with pain a particular problem, and is linked to depression or anxiety in carriers, a study from Portugal found. Earlier diagnosis and treatment may…
Alnylam Pharmaceuticals announced that it has completed patient enrollment for its Phase 3 HELIOS-A trial of vutrisiran, which will test the safety and efficacy of the candidate therapy for treating hereditary transthyretin amyloidosis. HELIOS-A (NCT03759379) enrolled 160 participants from 68 clinical sites…
The number of treatments for children with rare diseases has grown over the past decade, according to a new study. However, despite the increase, nearly 7,000 rare diseases are still lacking treatment. And federal incentives to boost treatment development for these rare diseases have primarily focused not on creating new…