An RNA-based treatment normalized the levels of the key PMP22 protein as well as motor function and muscle strength in two mouse models of Charcot-Marie-Tooth type 1 A disease (CMT1A), including one of severe disease, a study shows. This forms the basis of a possible precision medicine approach for…
The CMT Research Foundation will grant additional funding to a project investigating a potential gene therapy to reduce the elevated levels of the protein PMP22 that cause Charot-Marie-Tooth type 1A (CMT1A). The funding will help support…
Many diseases have their own awareness color — breast cancer is pink, muscular dystrophy is green, and AIDS is red, for example — but what’s the significance of pink, green, blue, and purple lights side-by-side? These are the colors most often used to represent Rare Disease Day. This…
The Hereditary Neuropathy Foundation is supporting preclinical work focused on mutations in the CNTNAP1 gene, which were linked previously to symptoms of Charcot-Marie-Tooth (CMT) disease, it announced in a press release. CMT is part of a large group of disorders called neuropathies, which are diseases characterized by nerve damage.
The true prevalence of Charcot-Marie-Tooth disease (CMT) in Denmark may be higher than previously thought, according to a recent Danish study in which researchers applied diagnostic criteria for CMT to individuals with nerve damage and no clear underlying cause. Based on their results, the scientists estimated an approximately 16%…
Pharnext has received €11 million ($13.3 million) in funding to support a Phase 3 trial investigating its investigational therapy PXT3003 for the treatment of Charcot-Marie-Tooth disease type 1A (CMT1A). The proceeds include €6 million ($7.2 million) from existing shareholders and €5 million ($6 million) from European investors.
Diagnosed with sickle cell disease as a 6-month-old, Tristan Lee has faced a lot of challenges over his 37 years of life. But from a young age, he also learned how to turn those trials into triumphs. At age 9, a stroke due to his disease left him paralyzed…
Rare Disease Day at NIH, organized by the National Institutes of Health (NIH) and taking place on March 1, will feature panel discussions, patient stories, research updates, TED-style talks, and a presentation by a Nobel laureate recently recognized for her work on a gene editing tool. The free, virtual…
More research is needed into whether different types of exercise can provide benefits to people with Charcot-Marie-Tooth disease (CMT), and how exercise affects biological processes related to CMT, a review states. The article, “Charcot-Marie-Tooth Disease: Genetic Predisposition and Effect of Resistance Training, Endurance Training, Physical Activity…
Delivering a healthy neurotrophin-3 (NT-3) gene to muscle cells in a mouse model of Charcot-Marie-Tooth disease type X1 (CMTX1) prevented motor function decline and eased defects in nerve and muscle structure, a study found. These results support an NT-3 gene therapy as a potential treatment…
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