News

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…

Modulation of Nrg1TIII signals improves production of the nerve cells’ myelin protective layer in mice with Charcot-Marie-Tooth type 1B, a study shows. Reactivation of these signals or inhibition of their natural regulators may represent a way to overcome the loss of myelin that occurs in CMT. The study, “…

A technique called diffusion tensor imaging (DTI) enables diagnosis of sciatic nerve damage in patients with Charcot-Marie-Tooth disease type 1 (CMT1). The study, “Diffusion tensor imaging of the sciatic nerve in Charcot-Marie-Tooth disease type I patients: a prospective case-control study,” appeared in the journal European…

An atypical case of an 11-year old boy diagnosed with Charcot-Marie-Tooth disease type 4C (CMT4C) associated with dropped head syndrome, a medical condition caused by severe spine deformities coupled with neck muscle weakness, was described in a recent study. The case report, “Dropped head syndrome as a manifestation…