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…
The CMT Research Foundation is collaborating with a scientist to identify fat (lipid) nanoparticles that might work as a vehicle for delivering gene therapies to the specific cells affected in people with Charcot-Marie-Tooth (CMT) disease. The partnership with James Dahlman, PhD, aims to overcome a major obstacle to new therapies…
Mutations in the LRSAM1 gene result in the rare, type 2P subtype of Charcot-Marie-Tooth disease, but the location of such mutations within the gene appears to influence the inheritance pattern and possibly the disease mechanism of CMT2P, according to a recent study. The study, “Location matters –…
Scores of virtual events are afoot around the world to mark Rare Disease Day 2021 on Feb. 28. The activities are focused on heightening awareness about rare diseases and the hundreds of millions of individuals they are thought to affect. Patients, caregivers, and advocates worldwide will sport denim ribbons…
People with rare disorders have a worse healthcare experience than those affected by chronic diseases, according to the results of an international survey conducted by Eurordis-Rare Diseases Europe. Indeed, rare disease patients overall give their healthcare experience a medium-low rating, of 2.5 on a scale of 1 to 5,…
An international Phase 3 clinical trial investigating Pharnext‘s investigational therapy PXT3003 for treating Charcot-Marie-Tooth disease type 1A (CMT1A) is on track and expected to enroll its first participants in March, the company announced. Dubbed PREMIER, the trial will include about 350 patients with mild-to-moderate CMT1A across 50 clinical…
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