News

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…

Dozens of films have focused on those with diseases or disabilities — and there’s no shortage of Hollywood productions about love and sex. But only a handful have ever really tried to combine these two themes. “Take a Look at This Heart” does the job with tenderness and finesse.

Lack of physical activity among children and adolescents with Charcot-Marie-Tooth (CMT) disease has a long-term negative effect on their physical function. The study with that finding, available in the BioRxiv platform, is titled “Physical activity in children and adolescents with Charcot-Marie-Tooth disease: a cross-sectional case-controlled study.” CMT is characterized…

Patients with Charcot-Marie-Tooth disease (CMT) type 2S may benefit from lifelong respiratory surveillance, a case report suggests. The study, “Charcot Marie Tooth disease type 2S with late onset diaphragmatic weakness: An atypical case,” was published in the journal Neuromuscular Disorders. CMT2S is caused by…

Aldevron has signed a long-term agreement with Sarepta Therapeutics to provide the gene-transfer vehicles used in Sarepta’s gene therapies that are being tested in ongoing and future clinical trials, as well as for future commercialization. Sarepta Therapeutics is a leading pharmaceutical developing precision genetic therapies for rare diseases, and has begun…

Cash-strapped governments across the 28-member European Union are struggling to control runaway healthcare expenditures — at exactly the same time as the promise of new but expensive therapies to treat rare diseases has never been greater. That’s the paradox faced by pharmaceutical companies as well as patient advocacy groups in…