News

Real-world Study Highlights Impact of CMT1A Symptoms

Weakness in the extremities, fatigue, and difficulty walking are typically the symptoms that affect people with Charcot–Marie–Tooth disease type 1A (CMT1A) the most, and many report substantial anxiety and/or depression, a study found. “These data demonstrate the high unmet medical need in CMT1A caused by the symptoms’ burden are…

Scientist Makes Journey Back to Pioneering Gene Therapy for CMT

A chance meeting at a conference four years ago led two researchers to join forces and resulted in a CMT1A gene therapy now under development. The 2018 Charcot-Marie-Tooth Association scientific conference was where Scott Harper, PhD, from Nationwide Children’s Hospital in Ohio, met Kleopas A. Kleopa, MD,…

CMT Awareness Focuses on Education, Fundraising in September

From switching out Facebook frames and viewing educational videos, to attending “band” exercise classes and rounding up purchases to the next dollar to benefit research and community programming, supporters are marking Charcot-Marie-Tooth (CMT) Awareness Month, observed every September. According to advocates, calling attention to the group of inherited peripheral…

New Virtual CMT Genetic Testing Program Seeks to Improve Access

A collaboration between Genome Medical and the Hereditary Neuropathy Foundation has led to a virtual initiative that seeks to reduce genetic testing barriers for Charcot-Marie-Tooth (CMT) disease patients. The new Charcot-Marie-Tooth Genie Project genetic testing program aims to provide the CMT community and its healthcare providers with…

AAT Protein Found to Protect Nerve Cells in CMT1A Mouse Study

Treatment with a protein called alpha-1 antitrypsin (AAT) protects nerve cells and lowers inflammation in a mouse model of Charcot-Marie-Tooth disease type 1A (CMT1A), a study has found. Lab experiments showed that the treatment, derived from human blood (hAAT), may exert its protective effects on nerve cells by preserving…

Black Pepper Compound May Help Restore Mitochondria in CMT2A

Piperine — the molecule that gives black pepper its pungent odor — and other chemically similar compounds can enhance cellular processes whose dysfunction are thought to underlie Charcot-Marie-Tooth disease type 2A (CMT2A), a study has found. In their ability to enhance the function of mitochondria — which produce energy…