News

While there are few silver linings to the cloud created by COVID-19, the pandemic that has killed tens of thousands, hobbled economies worldwide and drove millions to quarantine in their homes, one may be a new appreciation of telemedicine. “If something good could come out of this crisis, it’s that…

The National Organization for Rare Disorders (NORD) has opened a financial assistance program for people in rare disease community who are affected by the COVID-19 pandemic in the U.S. Called the NORD COVID-19 Critical Relief Program, the effort will provide up to $1,000 annually to those eligible to…

A larger-than-normal version of myelin protein zero is associated with damage to myelin — the protective sheath covering nerve fibers — and may underlie the development of Charcot–Marie–Tooth (CMT) disease, a study in mice found. The study “Upregulation of large myelin protein zero leads to Charcot–Marie–Tooth disease-like…

Muscle wasting and nerve conduction deficits are not associated with alterations in health-related quality of life (HRQoL) and hand function in people with Charcot-Marie-Tooth disease type 1A (CMT1A), a new study suggests. Still, the findings also indicated the importance of assessing changes in hand function as early as possible…

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…