News

About 100 scientists, researchers, pharmaceutical executives, and others will converge on Austria’s capital city early next month for the 2nd International Congress on Advanced Treatments in Rare Diseases. The March 4-5 meeting, to take place at the Hilton Am Stadtpark Vienna, features 27 speakers on a variety of disorders…

The StepWatch Activity Monitor, unlike the 6-minute walk test, was able to detect progressive deterioration in patients with Charcot-Marie-Tooth disease (CMT) over the course of one year and may be a suitable measure of outcomes in clinical studies of potential treatments, a study reports. The study, “Are novel outcome…

Mutations in the MFN2 gene are associated with altered connections between mitochondria and another cellular structure called endoplasmic reticulum (ER). These correlate with Charcot–Marie–Tooth disease type 2A (CMT2A) severity, as suggested by a study in patient-derived cells. The study, “MFN2 mutations in Charcot–Marie–Tooth disease alter…

Scores of events are afoot worldwide to mark Feb. 28, Rare Disease Day 2019. The activities aim to raise awareness about rare diseases and the millions of people — estimates run as high as 350 million — they are thought to impact. Across countries, patients, caregivers and advocates will paint faces, wear…

Pharnext‘s PXT3003 was granted fast track designation for Charcot-Marie-Tooth disease type 1A (CMT1A) by the U.S. Food and Drug Administration, the company announced. “We are pleased to receive Fast Track designation for PXT3003 in CMT1A” Daniel Cohen, MD, PhD, co-founder and CEO of Pharnext, said in a press…

A new experimental model of Charcot-Marie-Tooth disease (CMT) type 4B2 sheds light on the role of the MTMR13 enzyme in the abnormal production of myelin known to be involved in this rare disorder, a study reports. The study, “An In Vitro Model of Charcot-Marie-Tooth Disease Type 4B2…

The U.S. Food and Drug Administration(FDA) is updating its 2015 draft guidelines for drug discovery in rare diseases, with new guidance on natural history— how disorders such as spinal muscle atrophy(SMA) run their course if untreated — the choice of “efficacy endpoints” in clinical trials, and how…

The T118M variant of the PMP22 gene can cause painful peripheral neuropathy in people with Charcot-Marie-Tooth disease (CMT), a case report shows. The case study, “T118M Variant of PMP22 Gene Presents with Painful Peripheral Neuropathy and Varying Charcot-Marie-Tooth Features: A Case Series and Review of the Literature,”…

A new mutation in the GARS gene has been associated with autosomal dominant intermediate Charcot-Marie-Tooth disease (DI-CMT), a case report shows. The study, “Novel GARS mutation presenting as autosomal dominant intermediate Charcot‐Marie‐Tooth disease,” was published in the Journal of the Peripheral Nervous System. Up to 37 mutations in the GARS gene have…

Two weeks of treatment with Pharnext’s PXT3003 delayed disease onset, corrected motor deficits, and improved dysregulated molecular pathways in a young rat model of Charcot-Marie-Tooth disease type 1A (CMT1A), a preclinical study shows. This finding coincides with recent clinical data from the Phase 3 PLEO-CMT trial (NCT02579759) where treatment…