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…

Regenacy Pharmaceuticals received $30 million to help advance its lead candidate ricolinostat into Phase 2 studies for Charcot-Marie-Tooth (CMT) disease type 2, as well as diabetic and chemotherapy-induced peripheral neuropathy. The money comes from a series A financing round, which startup companies need…

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),…

The U.K.’s Medicines and Healthcare products Regulatory Agency (MHRA) has granted promising innovative medicine (PIM) designation to PXT3003 for the treatment of people with Charcot-Marie-Tooth type 1A (CMT1A) aged 16 and older. PIM designation indicates that the MHRA considers PXT3003, an experimental oral therapy developed by Pharnext, likely to…

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) —…

France-based Pharnext will use a capital raise of about 7.7 million euros ($8.4 million) to support the clinical development of PXT3003, the company’s experimental treatment for Charcot-Marie-Tooth disease type 1A (CMT1A). Led by existing investors, the funding included some U.S. institutional investors and Pharnext management members. “We…

A mutation in the SEPT9 gene — which provides instructions for making the septin-9 protein that is involved in many cell functions, including cell division and movement — can lead to the development of Charcot-Marie-Tooth disease, according to a new case report. Titled “Identification of a rare…

Acceleron Pharma is discontinuing the clinical development of ACE-083, its experimental treatment candidate for Charcot-Marie-Tooth (CMT) disease, based on recent data from a Phase 2 trial. While the trial met its primary goal of showing a significant increase in patients’ muscle volume, this increase failed to translate…

Mutations in the Jagged1 (JAG1) gene may compromise the integrity of peripheral nerves — those found outside the brain and spinal cord — and lead to peripheral neuropathy associated with Charcot-Marie-Tooth disease type 2 (CMT2), a study reports. The study, “Dominant mutations of the…

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…