News

Mutations that affect special enzymes crucial for protein production and closely associated with Charcot-Marie-Tooth (CMT) disease cause changes to their shape and flexibility. The degree of change to these proteins appears to determine disease severity, a recent study reports. The study, “…

A small RNA molecule called miR-29a can prevent Schwann cells from producing abnormal PMP22 transcripts associated with Charcot-Marie-Tooth disease type 1A (CMT1A), a study has found. The study, “Downregulation of the human peripheral myelin protein 22 gene by miR-29a in cellular models of Charcot–Marie–Tooth disease,”…

Next month’s annual conference of the National Organization for Rare Disorders (NORD) in Washington, D.C., couldn’t come at a better time, says Marshall Summar, MD, chairman of NORD’s board of directors. “The pace of discovery in rare diseases has gone from brisk to hypersonic,” Summar told Bionews Services, publisher…

The Muscular Dystrophy Association (MDA) has awarded 25 research grants totaling more than $6.6 million to scientists working on different neuromuscular diseases (NMDs), including Charcot-Marie-Tooth disease (CMT). This round of grant funding builds on the more than $1 billion the MDA has already invested to promote the discovery…

In a research partnership with the CMT Research Foundation (CMTRF), a prospective treatment being developed by AcuraStem for amyotrophic lateral sclerosis (ALS) was found to be a promising preclinical therapy candidate for a form of Charcot-Marie-Tooth (CMT) disease. In the collaborative drug screen for…

The Charcot–Marie–Tooth Association (CMTA) has granted $335,000 to two research projects focused on the development of new therapies for Charcot–Marie–Tooth (CMT) disease type 1A, type 1B, and other demyelinating forms of CMT, including type 4. CMTA has been funding projects for 30 years on…

Passage Bio has acquired the rights for a gene therapy developed at the University of Pennsylvania (Penn) that aims to restore the function of the MFN2 gene, which is defective in people with Charcot-Marie-Tooth Neuropathy Type 2A (CMT2A). Developed under Penn’s Gene Therapy Program, Passage Bio…

September is Charcot-Marie-Tooth (CMT) awareness month, and the Hereditary Neuropathy Foundation (HNF) suggests it is an ideal time to increase awareness — among the general public, educators, legislators, and  physicians — about accurately diagnosing CMT and other inherited neuropathies (nerve diseases). In a press release announcing the month-long observation, the nonprofit…

Pharnext is planning a new Phase 3 clinical study to further explore the potential of PXT3003 in patients with Charcot-Marie-Tooth disease type 1A (CMT1A). The decision to launch this new clinical trial was based on recommendations given by the U.S. Food and Drug Administration (FDA) after completing…

Schwann cells — those responsible for the production of the myelin protective layer in peripheral nerve cells — fail to develop normally in the absence of a protein called Ep400, a new mouse study shows. A lack of Ep400 locks the cells in an immature state characterized by defective myelin…