News

Registration is now open for the 2021 Rare Diseases and Orphan Products Breakthrough Summit, which will be held virtually Oct. 18–19. The event, also known as the National Organization for Rare Disorders (NORD) Summit, brings the rare disease community together to network and discuss developments in treatments and research…

Genetic analysis conducted by researchers in China has advanced the understanding of Charcot-Marie-Tooth (CMT) disease and related disorders, a study suggests. The analysis revealed a relatively higher proportion of those with subtype CMT2 and a lower occurrence of PMP22 gene duplication, a common genetic defect linked to the condition,…

Thickening of the cauda equina — a bundle of nerves at the end of the spinal cord — was found for the first time in two siblings with a milder form of Charcot-Marie-Tooth disease type 4 subtype H (CMT4H), a case study reported. This finding warrants further investigation regarding…

More than 600 people participated in the 10th annual Rare Disease Week on Capitol Hill 2021, held virtually July 14–22, to advocate for the rare disease community. Hosted by the EveryLife Foundation’s Rare Disease Legislative Advocates (RDLA) program, the event brings together community members from across the U.S. to…

The National Organization for Rare Disorders (NORD) is applauding the Biden administration for announcing a rule to protect consumers from surprise medical billing, in a joint statement with 26 other U.S. patient organizations. The interim final rule will implement patient protections required by the No Surprises Act. Surprise…

A sizable number of people at 16 hospitals in three European countries were wrongly diagnosed with chronic inflammatory demyelinating polyneuropathy (CIDP) and treated for that disorder, only to learn through later genetic testing that they actually had Charcot–Marie–Tooth disease (CMT), a study reported. Its researchers spotted features specific to CMT…

NMD Pharma, in collaboration with Aarhus University in Denmark and The Ohio State University, initiated an observational study to assess whether Charcot-Marie-Tooth disease (CMT) patients have deficits in the communication between nerve and muscle cells. If confirmed, the company plans to launch clinical trials testing one of its experimental…

AllianceRx Walgreens Prime, a specialty and home delivery pharmacy, is partnering with TailorMed, a healthcare technology company, to help lower out-of-pocket prescription costs for specialty pharmacy patients. Medications attained through specialty pharmacies are those used to treat rare and chronic conditions in the U.S., and are often extremely costly. For…

A group of researchers from across Australia will use a $3 million (about $2.2 million US) grant, awarded by the Medical Research Future Fund (MRFF), to find undiscovered genetic mutations underlying Charcot-Marie-Tooth disease (CMT). Their end goal is to improve the diagnosis of CMT and other rare adult-onset neurogenetic…

Pharnext has enrolled the first patient in Europe for its Phase 3 clinical trial of PXT3003, an investigational therapy for Charcot-Marie-Tooth disease type 1A (CMT1A). The international PREMIER trial (NCT04762758) is already underway in the United States, where the first patient was dosed earlier this year.