News

Treatment with a protein called alpha-1 antitrypsin (AAT) protects nerve cells and lowers inflammation in a mouse model of Charcot-Marie-Tooth disease type 1A (CMT1A), a study has found. Lab experiments showed that the treatment, derived from human blood (hAAT), may exert its protective effects on nerve cells by preserving…

Piperine — the molecule that gives black pepper its pungent odor — and other chemically similar compounds can enhance cellular processes whose dysfunction are thought to underlie Charcot-Marie-Tooth disease type 2A (CMT2A), a study has found. In their ability to enhance the function of mitochondria — which produce energy…

The CMT Research Foundation (CMTRF) is teaming up with Oryzon Genomics to conduct preclinical testing of treatments that Oryzon is developing for Charcot-Marie-Tooth disease (CMT). “We are excited to collaborate with Oryzon on this important project,” Cleary Simpson, CEO of the foundation, said in a press…

A total of 30 patient advocacy groups working to further understanding and the needs of people living with rare diseases have been selected to receive a Horizon Therapeutics‘ #RAREis Global Advocate Grant. Winners of this year’s inaugural awards are spread across nine countries and represent a total of 29 rare…

The CMT Research Foundation has granted over $500,000 to help develop a gene therapy for Charcot-Marie-Tooth disease type 1B (CMT1B). The grant was awarded to Afrooz Rashnonejad, PhD, principal investigator at the Nationwide Children’s Hospital Center for Gene Therapy and a professor at the Ohio State University’s department of…

Treatments for all types of Charcot-Marie-Tooth disease (CMT) will be the focus of the second annual Global CMT Research Convention, Sept. 16 and 17, in Cambridge, Massachusetts. Presented by the CMT Research Foundation, the event brings together patients, scientists, and biopharmaceutical companies to celebrate treatment advancements and the pioneers…

Nonprofits, scientists, governmental organizations, and the rare disease drug development industry have long cited 7,000 as the average number of rare diseases in the world. But a new analysis shows there are as many as 10,867 rare diseases globally. And that…

Newly identified mutations in the SLC12A6 gene associated with several subtypes of Charcot-Marie-Tooth (CMT) disease have been found, according to a study in Japan. The mutations also affected the central nervous system (brain and spinal cord). The findings call for the need to screen for mutations in the SLC12A6 gene…

A never-before-reported mutation in the GJB1 gene was identified in a recent case report as the cause of X-linked Charcot-Marie-Tooth (CMTX1) disease in two brothers — one of whom had more severe symptoms than the other. Both brothers showed elevated levels of a small RNA molecule called miR-206 — known…

Mutations in the MARS gene can cause axonal and intermediate childhood-onset forms of Charcot-Marie-Tooth disease (CMT), according to a study of two unrelated Chinese families. While MARS mutations were reported initially to cause an axonal form of CMT, these findings add to previous studies suggesting a link between such mutations…