News

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) —…

Neurofilament light chain (NfL) and phosphorylated neurofilament heavy chain (pNfH) — two key components of axons (nerve cell extensions responsible for transmitting nerve signals) — show promise as biomarkers of neurodegeneration in Friedrich’s ataxia (FA), a study reports. The study, “NfL…

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…

Physical impairments that worsen with disease progression are the main contributors to a poor health-related quality of life among people with Friedreich’s ataxia (FA), according to a recent study. Data also showed that quality of life measures effectively reflected disease progression in FA patients. That suggests they could be…

Exenatide, a drug that mimics the effects of the gut hormone GLP-1, increased the levels of frataxin — a protein involved in iron metabolism, whose deficiency leads to Friedreich’s ataxia (FA) — in a mouse model of the disease, a new study shows. Treatment with exanatide also improved the…

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…

Etravirine — an approved anti-viral therapy for HIV — is expected to soon enter clinical testing as a potential new treatment for Friedreich’s ataxia (FA) in a pilot Phase 2 trial taking place in Italy. The proof-of-concept study (NCT04273165), called FAEST1, which is being conducted…

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 Institute for Gene Therapies (IGT) has launched, with the aim of maximizing the potential of gene therapies in genetic disorders such as Friedreich’s ataxia (FA). Comprised of industry leaders, scientists, and patient advocates, the IGT’s overarching goal is to set the foundation for a modernized regulatory…