News

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…

To minimize risk during the COVID-19 pandemic, Reata Pharmaceuticals is implementing at-home visits to deliver omaveloxolone to Friedreich’s ataxia (FA) patients and to assess the treatment’s safety in an extension study of the MOXIe Phase 2 clinical trial. “The COVID-19 pandemic presents an unprecedented threat to public…

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),…

Design Therapeutics has launched with $45 million in funding to advance its lead candidate for the treatment of Friedreich’s ataxia into clinical development, and support programs for other nucleotide repeat disorders such as fragile X syndrome, and myotonic dystrophy. These genetic diseases are caused by excessive repeats…

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…