News

The use of antisense oligonucleotides (ASOs) to target the PMP22 gene was found to reverse several features of Charcot-Marie-Tooth disease (CMT) in mice, according to the results of a preclinical study. ASOs are single-strand synthetic nucleic acid molecules that bind to a specific messenger RNA (mRNA) sequence, promoting its degradation so…

Researchers identified a novel mutation responsible for a rare form of Charcot-Marie-Tooth disease in a 13-year-old Chinese patient. The case report, “A novel homozygous nonsense mutation in NEFL causes autosomal recessive Charcot-Marie-Tooth disease,” appeared in the journal Neuromuscular Disorders. Mutations (errors) in the gene coding for the…

Intermediate analyses were positive for a Phase 3 clinical trial evaluating Pharnext’s PXT3003 as a possible treatment for people with Charcot-Marie-Tooth disease type 1A (CMT1A). Results of the two planned analyses — conducted by Philippe Lehert, a member of the study’s Independent Data Safety Monitoring Board — confirmed the…

Researchers have found that children affected by Charcot-Marie-Tooth disease type 1A (CMT1A) have lower function, strength, and sensation in the upper limbs and hands. The study, titled “Established and novel measures of upper limb impairment in children with Charcot-Marie-Tooth disease type 1A and Riboflavin Transporter Deficiency…

The National Organization for Rare Disorders (NORD) says it’s “disappointed and dismayed” after the House of Representatives voted 227-205 last week to repeal the Orphan Drug Tax Credit as part of a U.S. tax reform package. A similar package before the Senate Finance Committee does not repeal the credit…

Defects in a gene responsible for Charcot-Marie-Tooth type 2B (CMT2B) appear to interfere with a process in cells called autophagy, a mechanism for the elimination of cellular waste. These findings suggest that normalizing autophagy in CMT2B patients may have therapeutic benefits. The study, titled “Alterations of autophagy in the…

Researchers have found that low levels of ceramide, a lipid molecule, leads to changes in mitochondrial structure and function, resulting in the neuronal degeneration seen in CMT2F, a form of Charcot-Marie-Tooth (CMT) disease. The study titled, “Decreased ceramide underlies mitochondrial dysfunction in Charcot-Marie-Tooth 2F,” was published in the…

Evaluating the body composition — its total lean body mass — of patients with Charcot-Marie-Tooth (CMT) disease can help determine disease progression, researchers report, with muscle mass in the legs of particular importance. The study “Body composition and its association with physical performance, quality of life, and clinical…

Researchers report finding a more than four-fold increase in the prevalence of Charcot-Marie-Tooth disease in Denmark between 1988 and 2012, possibly because of better disease diagnosis. They also report significantly higher mortality rates among CMT patients compared to the general public than is thought to exist. Conducted by a team at…

Placing the patient and family members at the center of research and drug development in the rare disease field is a necessity, experts say, but one that often falls short in practice. The opinion piece,“Measuring what matters to rare disease patients – reflections on the work by the IRDiRC…