Author Archives: Forest Ray PhD

A group of researchers from across Australia will use a $3 million (about $2.2 million US) grant, awarded by the Medical Research Future Fund (MRFF), to find undiscovered genetic mutations underlying Charcot-Marie-Tooth disease (CMT). Their end goal is to improve the diagnosis of CMT and other rare adult-onset neurogenetic…

Pharnext has enrolled the first patient in Europe for its Phase 3 clinical trial of PXT3003, an investigational therapy for Charcot-Marie-Tooth disease type 1A (CMT1A). The international PREMIER trial (NCT04762758) is already underway in the United States, where the first patient was dosed earlier this year.

The CMT Research Foundation (CMTRF) will host the first Global Charcot-Marie-Tooth disease (CMT) Research Convention on Sept. 24–25 in Alexandria, Virginia, and online. “The CMT scientific community is growing rapidly. We know that real progress happens in environments that foster open collaboration and sharing of science,” Susan Ruediger,…

A man with a rare case of diabetes complicating Charcot-Marie-Tooth disease (CMT) had a recurrent foot ulcer that originally was misdiagnosed as diabetic foot. That finding in a case report describes how the overlap in symptoms from the two conditions can be challenging, and how treating the ulcer with…

High-dose PXT3003, an investigational therapy for Charcot-Marie-Tooth disease type 1A (CMT1A), continues to show long-term safety and efficacy, according to an early analysis of a Phase 3 extension study. All participants showed improvements on the Overall Neuropathy Limitation Scale (ONLS), a measure of physical disability. “These new results…

Until April 30, the CMT Research Foundation (CMTRF) invites people to raise money supporting research into therapies for Charcot-Marie-Tooth disease (CMT), which the foundation will match up to $10,000. Volunteer ambassadors with the foundation created the Spring CMT Research Challenge to accelerate therapy development funding for this…

Depression, hand-and-finger weakness, and a lengthy delay from symptoms to diagnosis contribute to the burdens felt by people living with Charcot-Marie-Tooth disease (CMT). Those are among the key findings of the ongoing CMT&Me study, recently presented in a webinar hosted by Vitaccess. The entirely app-based…

The true prevalence of Charcot-Marie-Tooth disease (CMT) in Denmark may be higher than previously thought, according to a recent Danish study in which researchers applied diagnostic criteria for CMT to individuals with nerve damage and no clear underlying cause. Based on their results, the scientists estimated an approximately 16%…

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 possibly the disease mechanism of CMT2P, according to a recent study. The study, “Location matters –…

The two COVID-19 vaccines that recently received emergency approval from the U.S. and other worldwide regulatory agencies are expected to pose little risk to the rare disease community, including to patients with compromised immune systems or those participating in gene therapy studies. That was the message of a recent…