EN001, a stem cell therapy being developed by Encell, was found to safely ease symptoms of Charcot-Marie-Tooth disease type 1A (CMT1A) in early clinical testing. That’s according to the results of a Phase 1 trial (NCT05333406) involving nine adults with a genetically confirmed diagnosis of CMT1A.
Duplication of the PMP22 gene, the underlying cause of Charcot-Marie-Tooth disease type 1A (CMT1A), disrupts the development of Schwann cells essential to the myelin sheath that protects nerve cells, a study in mouse models and cells derived from patients reports. Specifically, the gene’s duplication dysregulates fat-like lipid metabolism, storage,…
The Hereditary Neuropathy Foundation (HNF) will present a patient-centered Charcot-Marie-Tooth disease (CMT) summit June 7-8 that will address clinical trial readiness. The event will happen at the Loews Coronado Bay Resort, San Diego, and a limited number of discounted rooms are available. Tickets are $200 for patients and…
The CMT Research Foundation is joining Jenny Decker, a nurse with Charcot-Marie-Tooth disease (CMT) who last summer set sail on a solo trip around the world to raise awareness about the disease. The trip, which Decker named Just A Lap, could take about three years. If she succeeds,…
Foot surgery may help reduce pain during walking and correct the way people with Charcot–Marie–Tooth disease (CMT) stand, a brief report by researchers in Italy suggests. While foot surgery may not address functional limitations like a slow gait and poor balance, it “allows [patients] to wear shoes, and leads…
Some mutant forms of neurofilament light (NF-L) linked to Charcot-Marie-Tooth disease (CMT) show abnormal glycosylation, a type of protein modification, which may compromise how they support nerve cells, a study in cells and post-mortem brain tissue suggests. NF-L in cerebrospinal fluid, the liquid that…
Pharnext is analyzing clinical trial data that could support applications to approve PXT3003, its therapy candidate for people with Charcot-Marie-Tooth type 1A (CMT1A), in the U.S. and Europe. “We remain hopeful of finally being able to bring a medical solution to patients with no treatment,” Hugo Brugière, manager…
In Charcot-Marie-Tooth disease (CMT), a type of support cell called Schwann cells help to repair nerve injury to limit the severity of the disease, a new study suggests. The finding suggests that therapies aiming to activate certain pathways in these cells may be beneficial in CMT and other peripheral…
Many of the mutated proteins that cause the different forms of Charcot-Marie-Tooth disease type 2 (CMT2) tend to go to a point in nerve cells, or neurons, called stress granules. There, upon stress, they make unwanted interactions with a protein called G3BP, a study found. Breaking these interactions was…
The Charcot-Marie-Tooth Association (CMTA) has given a $225,483 award to support the development of treatments for Charcot-Marie-Tooth disease type 2E (CMT2E). The work is also being supported by the Muscular Dystrophy Association. The project will be led by Mario Saporta, MD, PhD, clinical neurologist and researcher at…
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