News

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.

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…

The CMT Research Foundation is teaming up with the University of Illinois Chicago (UIC) to investigate a potential treatment for X-linked Charcot-Marie-Tooth type 1 disease (CMTX1), the second most common type of CMT. Together, they aim to test whether inosine, an anti-inflammatory molecule, might act in ways that…

Mutations in the GARS protein — found in people with Charcot-Marie-Tooth disease type 2D (CMT2D) — enhanced the activity of the enzyme SIRT2, and led to motor deficits and other alterations in fruit flies, a study has found. In turn, blocking…

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…

At its first virtual investor event, biotech company Centogene set a bold mission: to cure 100 rare diseases within the next decade. A leader in the field of genetic diagnostics, Centogene used the June 22 event to present its strategic priorities, outlining its plans to speed the discovery…

The CMT Research Foundation has teamed up with AcuraStem and scientist Alessandra Bolino, PhD, to test potential new therapies for Charcot-Marie-Tooth disease type 4B1 (CMT4B1), a severe form of the disease with early onset. CMT4B1 is caused by mutations in the gene MTMR2, which is involved in the…