Charcot-Marie-Tooth News

June 17, 2022June 17, 2022

Foot Deformity Doesn’t Affect Walking Impairments in CMT: Study

Charcot-Marie-Tooth News

The ability to walk in children and adolescents with Charcot-Marie-Tooth (CMT) disease is similarly impaired regardless of their type of foot deformity, according to a small study. The study, “Do ... Read more

June 10, 2022June 10, 2022

NORD’s ‘Living Rare, Living Stronger’ Patient, Family Forum Set for June 26

Charcot-Marie-Tooth News, COVID-19 News

The National Organization for Rare Disorders’ (NORD) “Living Rare, Living Stronger Patient and Family Forum” is back in person on June 26 for a day of learning and networking in ... Read more

June 8, 2022June 8, 2022

CMT2S Patient Features, New Gene Mutations ID’d in Chinese Study

Charcot-Marie-Tooth News

Newly identified mutations in the IGHMBP2 gene have been associated with Charcot-Marie-Tooth disease type 2S (CMT2S), according to a study in China. Data also suggested that missense IGHMBP2 mutations localized in ... Read more

June 3, 2022June 3, 2022

Patient Enrollment Complete for PREMIER Trial of PXT3003

Charcot-Marie-Tooth News

Enrollment into Pharnext’s pivotal Phase 3 PREMIER clinical trial, testing the effectiveness and safety of PXT3003 for people with mild-to-moderate Charcot-Marie-Tooth type 1A (CMT1A), is complete. The study exceeded its target ... Read more

May 27, 2022May 27, 2022

IFB-088 Aids Myelin Formation in CMT1 Mouse Models

Charcot-Marie-Tooth News

IFB-088, a small molecule that modulates a cell’s response to stress, improved myelin formation in mouse models of Charcot-Marie-Tooth type 1 (CMT1) disease, and this translated into faster nerve signal ... Read more

May 25, 2022May 25, 2022

Rare POLR3B Mutation Again Linked to Early-onset CMT Type 1

Charcot-Marie-Tooth News

In rare cases, de novo or non-inherited mutations in one copy of the POLR3B gene can cause an early-onset demyelinating form of Charcot-Marie-Tooth disease (CMT), according to a study from Japan involving more ... Read more

May 18, 2022May 18, 2022

PXT3003 Continues to Safely Treat CMT1A Patients Over Long Term

Charcot-Marie-Tooth News

Pharnext’s PXT3003, a potential treatment for Charcot–Marie–Tooth type 1A (CMT1A), continues to show sustained safety and efficacy in a Phase 3 open-label extension study. Data collected in April show that PXT3003 continues ... Read more

May 13, 2022May 13, 2022

Carpal Tunnel Syndrome in CMT1A Diagnosed by Ultrasound: Case Study

Charcot-Marie-Tooth News

Ultrasound may help diagnose and direct treatment for carpal tunnel syndrome in people with Charcot-Marie-Tooth disease type 1 subtype A (CMT1A), a case report suggests. The report, “Nerve Ultrasound Findings ... Read more

May 11, 2022May 11, 2022

New Gene Mutation Seen in Woman With Muscle Weakness Due to CMT2

Charcot-Marie-Tooth News

A new genetic mutation was identified in an Italian woman with severe muscle wasting in the arms and legs due to Charcot-Marie-Tooth disease type 2 (CMT2). The finding is part ... Read more

May 6, 2022May 6, 2022

Organizations Rally to Help Ukrainian Rare Disease Patients

Charcot-Marie-Tooth News

A Russian military plane crash near Tetiana Zamorska’s home in Kyiv, Ukraine, was a sign that it was time for her and her family to leave. The treacherous, 34-hour pilgrimage that ... Read more

May 4, 2022May 4, 2022

Rare CMT1 Case Due to Simultaneous Mutations in MPZ and MFN2 Genes

Charcot-Marie-Tooth News

A 12-year-old boy with Charcot-Marie-Tooth type 1 (CMT1) was found in a rare case study to carry variants in two different genes, MPZ and MFN2. The variant in MPZ has ... Read more

April 29, 2022April 29, 2022

HDAC6 Inhibitors Restore Neuromuscular Defects in Zebrafish

Charcot-Marie-Tooth News

Treatment with inhibitors of the HDAC6 protein, including the new compound CKD-504, was able to restore proper connections between nerves and muscles and improve movement in zebrafish with low levels of ... Read more

April 27, 2022April 27, 2022

Orthopedic Shoes Can Improve Walking, But Not Stability, in Patients

Charcot-Marie-Tooth News

Compared to regular footwear, customized orthopedic shoes significantly improve walking, including speed, in adults with Charcot-Marie-Tooth (CMT) disease, according to a small study in the Netherlands. However, no significant differences ... Read more

April 22, 2022April 22, 2022

Low-dose RGFP966 Molecule Aids Myelin Formation in CMT1A Mice

Charcot-Marie-Tooth News

A low dose of a molecule known as RGFP966 boosted myelin production and improved electrical impulse conduction in nerves of a mouse model of Charcot-Marie-Tooth disease type 1 subtype A (CMT1A), ... Read more

April 20, 2022April 20, 2022

Europe Awaits Proposed New Framework for Sharing Health Data

Charcot-Marie-Tooth News

The European Commission is expected to propose a new governing framework for health data next month, called the European Health Data Space (EHDS), with the aim of connecting national health ... Read more