News

At least 800 people representing some 45 countries are soon expected to gather in Austria’s capital city, Vienna, for ECRD 2018, the 9th European Conference on Rare Diseases and Orphan Products. The May 10-12 meeting is sponsored by Eurordis, the Paris-based group that defines itself as a “patient-driven alliance”…

Researchers found that small molecules which target the key protein altered in patients with Charcot-Marie-Tooth disease type 2A (CMT2A) may be a viable therapeutic approach and also improve other diseases with impaired mitochondrial health. The study, “MFN2 agonists reverse mitochondrial defects in preclinical models of Charcot-Marie-Tooth disease type 2A,”…

Damage in the nerves that control involuntary body functions — known as autonomic nerve damage — is highly prevalent and has a significant impact on Charcot-Marie-Tooth disease (CMT) patients, a new study shows. The research, “Dysautonomia in Charcot-Marie-Tooth Disease and Correlations with Patient-Reported Disability (P2.112),” will be presented…

Researchers found that a neuropathy-based scale may help predict the need for mobility assistance in children with Charcot-Marie-Tooth disease. The results will be presented April 23 at the 2018 American Academy of Neurology (ANN) Annual Meeting, April 21-27 in Los Angeles in the session dedicated to Child Neurology…

The Inherited Neuropathies Consortium will conduct a clinical trial of a tool that researchers developed to assess the severity of children’s Charcot-Marie-Tooth Disease. Scientists say the assessment tool used in adults — the Charcot-Marie-Tooth neuropathy score, or CMTNS — is a reliable way of determining the severity of their disease. It…

Pharnext SA — the French biopharmaceutical company developing PXT3003 as a therapeutic candidate to treat Charcot-Marie-Tooth disease type 1A (CMT1A) — announced that it has successfully raised 16 million euros, or $19.7 million, through a private placement. The financial term refers to…

A little-known government entity within the National Institutes of Health (NIH) is helping to lead U.S. efforts to speed up the development of therapies for some 7,000 rare diseases. The Office of Rare Diseases Research (ORDR), headquartered in Bethesda, Maryland, was established in 1993 within the NIH Office of the…

Like many of us, people living with Charcot-Marie-Tooth (CMT) disease make resolutions to become healthier and more fit. But while starting something new can be exciting, finding out what exercises are best when you have a limiting condition can be tough to navigate. In the Exercise and Physical Therapy area…

A specific portion of a protein contributes to the stability of myelin, the coating that protects nerve cells, according to a mouse study that has implications for Charcot-Marie-Tooth (CMT) disease. The findings on periaxin could shed light on the molecular mechanisms involved in CMT type 4F, researchers said. Their study…

Researchers have found that two proteins, Sox2 and Id2, play a protective role in preventing further damage in specialized nervous system cells of a mouse model of Charcot-Marie-Tooth disease type 1B (CMT1B). The study titled, “Sustained expression of negative regulators of myelination protects Schwann cells from dysmyelination in a…