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…
News
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, “…
News
MRI-based Technique Enables Early Diagnosis of Sciatic Nerve Damage in CMT1 Patients, Study Reports
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…
Recent Posts
- Novel gene therapy for CMT4C shows proof of principle in treating mice
- A scientist’s perspective on the landscape of CMT research
- Renowned European geneticist bringing expertise to CMTA as new adviser
- Finding productive ways to channel my frustration with CMT
- Raising awareness of the hidden costs of Charcot-Marie-Tooth disease