A gene therapy delivering instructions to produce the neurotrophin-3 (NT-3) protein to muscle cells improved muscle function and eased defects in nerve and muscle structure of a mouse model of severe Charcot-Marie-Tooth disease type 2D (CMT2D), a study found. These results support an NT-3 gene therapy as a potential treatment…
Children with Charcot-Marie-Tooth (CMT) disease are more likely to be on either extreme of the body mass index, either underweight or obese, than their healthy peers, a large study found. Findings also showed that among children with CMT, being underweight or obese was associated with greater disability. The study,…
Clinical indices measuring disease severity and the need for walking assistance may help patients with Charcot-Marie-Tooth (CMT) disease in deciding on the type of orthosis required to provide added support for weakened muscles, a study found. Both the Ambulation Index (AI) and the Charcot-Marie-Tooth Neuropathy Score (CMTNS) “can be effective…
A boy who experienced oculomotor nerve palsy, a rare condition affecting a nerve that controls eye movements, was later diagnosed with Charcot-Marie-Tooth disease type 1 (CMT1), a case study reports. Although the two conditions may have been coincidental, researchers noted the underlying nerve damage due to CMT may have…
The CMT Research Foundation has awarded nearly $100,000 to support a project that is seeking a better way to deliver treatments to peripheral nerve tissue. “If successful, this work will provide the evidence for further development of this novel approach to overcoming the drug delivery challenge in CMT,” Susan…
Over 230 national organizations signed a letter urging all 50 U.S. state governors to “maintain and expand” flexibility with licensure requirements for the duration of the COVID-19 pandemic to ease access to care. During the pandemic, governors used emergency authority to waive certain state licensure requirements, giving healthcare providers…
A researcher from Belgium who is developing a new cell-based model for Charcot-Marie-Tooth (CMT) disease has been awarded nearly $99,000 to further her research. The grant from the Charcot-Marie-Tooth Association Strategy to Accelerate Research (CMTA-STAR) has been awarded to Esther Wolfs, PhD, at Hasselt University in Belgium, according…
The investigational gene therapy Engensis (VM202) was generally safe and showed signs of effectiveness at easing sensory neuropathy, or nerve damage, and improving muscle health in people with Charcot-Marie-Tooth disease type 1A (CMT1A), according to data from a Phase 1 clinical trial. A larger Phase 2 trial is…
A retrospective study by the National Institutes of Health (NIH) suggests that healthcare costs for those with rare diseases have been underestimated, possibly being three to five times higher than for those without rare diseases. This study provides evidence of the potential effect rare diseases may have on public health…
People with Charcot-Marie-Tooth disease type 1A (CMT1A) show a poorer performance in cardiopulmonary exercise testing using a stationary bicycle relative to healthy individuals, a study shows. Cardiopulmonary exercise testing (CPET) is a non-invasive assessment of the cardiopulmonary system at rest and during exercise. Notably, this poorer performance appeared to be…
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