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…
In recognition of Rare Disease Day Feb. 29, Bionews Services launched a social media campaign last month asking patients to describe what makes them rare. Running Feb. 7–29, the #WhatMakesMeRare campaign was aimed at uplifting people with rare diseases by encouraging them to share their stories and perspectives. The…
Beginning on Feb. 29, Rare Disease Day, chapters from notable scientific books and clinical review articles covering rare disorders will be available free-of-charge from Elsevier. The offer runs through April 30, and aims to supports work by researchers and clinicians into a better understanding of and treatments for rare diseases, as well…
Onpattro (patisiran) has been approved in Brazil to treat hereditary transthyretin amyloidosis in adults with stage 1 or stage 2 polyneuropathy, the therapy’s developer, Alnylam Pharmaceuticals, has announced. Hereditary ATTR amyloidosis, also known as familial amyloid polyneuropathy (FAP), is a genetic…
Starting a 501(c)(3) tax-exempt nonprofit isn’t easy, but the National Organization for Rare Disorders gave a few tips for those  looking to begin the complex process in its Feb. 20 webinar. William Whitman…
The European Commission (EC) has approved the once-daily oral medication Vyndaqel (tafamidis) for the treatment of cardiomyopathy — a disease of the heart muscle that makes it harder for the heart to pump blood to the rest of the body — in adults with transthyretin…
An abundance of events are afoot around the world to mark Rare Disease Day 2020 on Feb. 29. The activities are focused on heightening awareness about rare diseases and the hundreds of millions of individuals they are thought to affect. Patients, caregivers, and advocates worldwide will sport denim ribbons…
The V122I gene mutation, found primarily in people of African descent with hereditary transthyretin amyloidosis (ATTR), is associated with heart failure in individuals of African or Hispanic/Latino descent, a study found. The study, “Association of the V122I Hereditary Transthyretin Amyloidosis Genetic Variant With Heart Failure…