Charcot-Marie-Tooth News

August 4, 2020August 4, 2020

PXT3003’s Components Work in Synergy to Improve Outcomes in CMT1A, Study Finds

Charcot-Marie-Tooth News

The three components of the investigational therapy PXT3003 are all essential to significantly improve features of Charcot-Marie-Tooth disease (CMT) type 1A in cell and animal models, a new study suggests. The ... Read more

July 31, 2020July 31, 2020

Scientists Find Way to Create Models of CMT Motor Neurons for Research

Charcot-Marie-Tooth News

A new protocol allows researchers to generate spinal motor neurons derived from Charcot-Marie-Tooth disease (CMT) patients, creating useful models for better understanding the disease and investigating responses to potential therapies. The ... Read more

July 29, 2020July 29, 2020

Phase 1/2a Trial of Gene Therapy Engensis for CMT1A Begins in Korea

Charcot-Marie-Tooth News

Helixmith has launched a Phase 1/2 clinical trial in South Korea to investigate its gene therapy product Engensis (VM202) for the treatment of muscle symptoms in people with Charcot-Marie-Tooth disease ... Read more

July 24, 2020July 28, 2020

Shark Tooth Cycling Opens as Nonprofit, Encouraging Active Life With CMT

Charcot-Marie-Tooth News, COVID-19 News

A newly-opened nonprofit called Shark Tooth Cycling aims to encourage young people in the U.S., especially those affected by Charcot-Marie-Tooth disease (CMT), to get outdoors and ride their bikes. Much like other ... Read more

July 21, 2020July 21, 2020

Study Sheds New Light on How HARS1 Mutations Cause CMT in Cells, Zebrafish

Charcot-Marie-Tooth News

Mutations in the gene HARS1, which are a cause of Charcot-Marie-Tooth disease (CMT), result in reduced protein production in neurons — providing a possible mechanism for how these mutations cause ... Read more

July 17, 2020July 17, 2020

Chemo-induced Nerve Damage Less Likely in Certain CMT Patients, Study Finds

Charcot-Marie-Tooth News

The chemotherapy agent oxaliplatin does not increase the risk of chemotherapy-induced peripheral neuropathy (CIPN), one of its most common side effects, in patients with uncommon variants in genes that cause Charcot-Marie-Tooth (CMT) ... Read more

July 14, 2020July 14, 2020

Telehealth Helped in Therapy Sessions With CMTX Patient Suspected of COVID-19

Charcot-Marie-Tooth News, COVID-19 News

Telemedicine is valuable for continuing physical therapy with people unable to travel or affected by the ongoing pandemic, according to researchers who used it to help a man in Italy, ... Read more

July 7, 2020July 7, 2020

Common Mutations of CMT4 Subtypes Not Found in Iranian Patients, Study Reports

Charcot-Marie-Tooth News

Two genetic mutations that cause subtypes of Charcot-Marie-Tooth (CMT) disease are not common in Iranian CMT type 4 patients, despite their high prevalence in other similar populations with consanguineous marriage, ... Read more

July 1, 2020July 1, 2020

DTx Pharma Study Discovers Multiple Therapeutic Candidates for CMT1A

Charcot-Marie-Tooth News

DTx Pharma has discovered new molecules that could be treatment candidates for Charcot-Marie-Tooth disease (CMT) type 1A (CMT1A), reaching the second milestone of a study designed to find molecules that ... Read more

June 26, 2020June 26, 2020

Problems with Mitochondria of Neurons May Underlie CMTX6, Study Finds

Charcot-Marie-Tooth News

Problems with energy production and mitochondria, the powerhouses of cells, may be the underlying cause of an X-linked form of Charcot-Marie-Tooth disease (CMT) called CMTX6, a study in patient-derived motor ... Read more

June 23, 2020June 23, 2020

mTORC1 Overactivation Linked to CMT4B Myelin Defects, Early Study Shows

Charcot-Marie-Tooth News

Mutations that cause Charcot-Marie-Tooth disease type 4B (CMT4B) lead to an increase in the activity of a protein called mTORC1 that is responsible for the problems with myelin that characterize the ... Read more

June 22, 2020July 23, 2020

Alexion Charitable Foundation Giving $1.1M to Assist Rare Disease Community During Pandemic

Charcot-Marie-Tooth News, COVID-19 News

The Alexion Charitable Foundation has awarded $1.1 million in grants to programs that support those with rare diseases during the COVID-19 pandemic, the organization recently announced. The grants will support ... Read more

June 19, 2020June 19, 2020

Hearing Difficulties in CMT Linked to Nerve Signaling Problems in Study

Charcot-Marie-Tooth News

People with Charcot-Marie-Tooth disease (CMT) may have difficulties in understanding speech, even in the absence of hearing loss, caused by problems with the nerve cells that carry signals from the ... Read more

June 16, 2020June 17, 2020

Pharnext Plans Final Trial to Support PXT3003 Approval for CMT1A

Charcot-Marie-Tooth News

With guidance from the U.S. Food and Drug Administration (FDA), Pharnext is planning a pivotal, final Phase 3 clinical trial of its investigational therapy PXT3003 for the treatment of Charcot-Marie-Tooth ... Read more

June 12, 2020June 12, 2020

Copy Number Variations Helpful in Spotting Potential CMT Mutations

Charcot-Marie-Tooth News

Testing for large deletions or duplications in certain DNA regions, a form of mutation called copy number variations, is important in identifying new mutations that cause Charcot-Marie-Tooth disease (CMT), a ... Read more