News

Grünenthal, the Lead Discovery Center (LDC) and the Max-Planck Society have signed a research collaboration agreement to develop new therapies for Charcot-Marie-Tooth type 1A (CMT1A). Two branches of Max-Planck are involved: Max-Planck Innovation and the Max Planck Institute of Experimental Medicine (MPI-EM). These two will work with…

Charcot-Marie-Tooth (CMT) disease type 4C is the most common recessive form of the disease in Norway. Researchers, looking at all known Norwegian patients with CMT4C, also found six new mutations that cause the disease. The study, “…

A proposed therapy for neurodegenerative diseases involving the removal of the neurofilament light chain protein (NEFL) may have harmful consequences in humans, potentially leading to Charcot-Marie-Tooth disease (CMT), researchers have found. The research team discovered this while studying the effects of a type of mutation in the NEFL gene,…

Flex Pharma is terminating a Phase 2 clinical trial that was assessing FLX-787 as a potential treatment for muscle cramps in Charcot-Marie-Tooth disease (CMT) patients due to concerns about the oral tolerability of the investigational therapy. The randomized, double-blind COMMIT trial (NCT03254199) was being conducted at 20…

The French biopharmaceutical company Pharnext recently announced that its candidate for the treatment of Charcot-Marie-Tooth disease type 1A (CMT1A) was granted priority review by the China Food and Drug Administration (CFDA). PXT3003 is a fixed-dose combination of baclofen, naltrexone, and sorbitol. The therapy candidate has received orphan drug status in both…

Treatment with the chemotherapy drug vincristine can lead to severe neuropathy (nerve disease) in patients with an underlying mutation for Charcot-Marie-Tooth disease type 4, according to a new case report from California. The study, “Heterozygosity for CMT Type 4 Predicts a Severe Vincristine-induced Polyneuropathy Phenotype: A Case Report…

TRPV4 channels, critical players in Charcot-Marie-Tooth disease type 2C (CMT2C), regulate the structure and function of mitochondria in diverse cell types, a new study shows. The study, “TRPV4 interacts with mitochondrial proteins and acts as a mitochondrial structure-function regulator,” appeared in bioRxiv. The balance of calcium (Ca2+)…

As President Trump signed the recently passed Right to Try legislation into law in a White House ceremony, Jordan McLinn of Indianapolis tried twice to embrace him. The third time, 9-year-old Jordan finally got the hug he wanted — as well as a kiss on the forehead. The video of…

A new gene mutation was identified in five family members with X-linked Charcot-Marie-Tooth disease type 4 (CMTX4), a Chinese case report describes. The study, “A Novel AIFM1 Mutation in a Chinese Family with X-linked Charcot-Marie-Tooth disease type 4,” appeared in the journal Neuromuscular Disorders. Mutations in…

Finding treatments and potential cures for rare diseases is crucial, but so is the quality of patients’ lives — a rather nebulous term that means different things to different people. “Recently, there’s been much more of a focus on Quality of Life (QoL) issues, real-world evidence and patient-reported outcomes,” said…