News

February 26, 2021February 26, 2021

Funding Supports Pharnext’s Phase 3 Trial of PXT3003

News

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). ... Read more

February 25, 2021February 25, 2021

Rare Disease Day ‘Patient Hero’ Raises Awareness Through Fashion

News, syndicated

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 ... Read more

February 24, 2021February 23, 2021

Rare Disease Day at NIH, Set for March 1, Growing Year by Year

News, syndicated

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 ... Read more

February 23, 2021February 23, 2021

More Research Needed into Effects of Exercise on CMT Patients, Review Says

News

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 ... Read more

February 19, 2021February 19, 2021

Gene Therapy Seen to Rescue Motor, Nerve Defects in CMTX1 Mouse Model

News

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 ... Read more

February 16, 2021February 16, 2021

CMT Research Foundation Funds Work Into Way of Delivering Gene Therapy

News

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 ... Read more

February 12, 2021February 12, 2021

Mutations in LRSAM1 Gene Tied to Rare CMT Subtype

News

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 ... Read more

February 11, 2021February 11, 2021

Pandemic Won’t Stop Rare Disease Day on Feb. 28

News, syndicated

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 ... Read more

February 9, 2021February 17, 2021

Eurordis Survey: Healthcare Experience Worse for Rare Disease Patients

News, syndicated

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, ... Read more

February 5, 2021February 5, 2021

Pivotal CMT1A Trial to Begin Patient Enrollment Soon

News

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 ... Read more