News

US Patient Groups Give Thumbs-Up to Rule Against Surprise Billing

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…

CMT, in Costly Error, Can Be Mistaken for Similar Rare Disorder

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…

Study of CMT Nerve-Muscle Signals May Pave Way to Therapy Trial

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…

Partnership Aims to Lower Out-of-Pocket Costs for Rare Disease Meds

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…

Australian Researchers Win Grant to Discover Genetic Mutations

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…

First European CMT1A Patient Enrolled in PREMIER Trial

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.

Nominations Open for 2022 Eurordis Black Pearl Awards

Nominations are now open for the worldwide 2022 Black Pearl Awards from Eurordis-Rare Diseases Europe. The 12 award categories recognize individual advocates, policy makers, researchers, organizations, and companies who work to make a difference for the global rare disease community. The deadline for nominations is Sept. 10…

Grant Will Help Scientist Develop MRI Biomarkers of CMT1A

Scientist Jun Li has won a $246,172 grant to develop new MRI biomarkers to assess disease progression and response to treatment in people with Charcot-Marie-Tooth disease type 1A (CMT1A). The grant, from the National Center for Advancing Translational Sciences of the National Institutes of Health, will fund a project…