Posts by: Alice Melao

News

A new genetic mutation in the MCM3AP gene was identified and associated with three cases of Charcot-Marie-Tooth (CMT) disease in one family, who also showed symptoms of multiple sclerosis ... Read more

October 10, 2019October 10, 2019

Inherited Neuropathy Consortium Awarded $7.2M to Continue Studying, Improve Care for CMT

News

The National Institutes of Health (NIH) granted almost $7.2 million to the Inherited Neuropathy Consortium (INC) to further support its work improving care and clinical research on Charcot-Marie-Tooth disease ... Read more

September 5, 2019September 5, 2019

Pharnext to Launch New Phase 3 Trial of PXT3003 for CMT1A

News

Pharnext is planning a new Phase 3 clinical study to further explore the potential of PXT3003 in patients with Charcot-Marie-Tooth disease type 1A (CMT1A). The decision to launch this ... Read more

March 28, 2019March 28, 2019

Increased Levels of MFN1 Protein Can Reverse Features of CMT2A in Mice, Study Shows

News

Increasing levels of the mitofusin-1 (MFN1) protein in nerve cells of the spinal cord can reverse the features of Charcot-Marie-Tooth type 2A (CMT2A), a study in mice shows. The ... Read more

February 5, 2019February 5, 2019

New Cell Model Sheds Light on MTMR13 Enzyme’s Role in Myelin Production in CMT4B2

News

A new experimental model of Charcot-Marie-Tooth disease (CMT) type 4B2 sheds light on the role of the MTMR13 enzyme in the abnormal production of myelin known to be involved in ... Read more

January 22, 2019January 22, 2019

Modulation of Specific Molecule May Help Treat Subtypes of CMT, Study Shows

News

Modulation of Nrg1TIII signals improves production of the nerve cells’ myelin protective layer in mice with Charcot-Marie-Tooth type 1B, a study shows. Reactivation of these signals or inhibition of ... Read more

January 8, 2019January 8, 2019

CMT2S Patients May Benefit from Respiratory Surveillance, Case Report Shows

News

Patients with Charcot-Marie-Tooth disease (CMT) type 2S may benefit from lifelong respiratory surveillance, a case report suggests. The study, “Charcot Marie Tooth disease type 2S with late onset diaphragmatic ... Read more

October 19, 2018October 19, 2018

International CMT&Me Observational Study to Explore the Impact of CMT Using an App

News

A newly launched international observational study is going to explore the overall impact of Charcot-Marie-Tooth disease (CMT) using a tailored app called CMT&Me. Designed by Vitaccess in collaboration with ... Read more

September 10, 2018September 10, 2018

RNA Molecule Can Regulate Common Pathway of CMT and ALS, Fruit Fly Study Suggests

News

A genetic study in fruit flies has found a new link between Charcot-Marie-Tooth (CMT) disease and amyotrophic lateral sclerosis (ALS). Conducted by researchers from the Kyoto Institute of Technology ... Read more

July 30, 2018July 30, 2018

PNF Exercises Can Help CMT1A Patients Prevent Foot Drop, Study Suggests

News

Proprioceptive neuromuscular facilitation (PNF) muscle-stretching exercises can help prevent foot drop in patients with Charcot-Marie-Tooth (CMT) disease type 1A. The finding is reported in the study “Ipsilateral proprioceptive neuromuscular ... Read more