I've been increasingly irritated lately by US-based CMT-related non-profit organizations that seem to compete with each other for donations — supposedly they drive research for "treatments and cures." How well they actually do this relative to the padding of their own budgets is a good question I might take up down the line, but you would think they might at least put some effort into writing plain-English summaries of technical material (medical and scientific research) in ways that educate and inform regular people. But no.
It seems the new hope for VM202 as a CMT1a treatment is perhaps Hellxmith's latest attempt to find a market for an experimental product that has not panned out as hoped.
Two blogs about CMT I found recently: the MFN2 Project and Help Chronic Pain in Alberta.
Published in Nature Genetics last month, the INC group's findings are a big deal, and there is a really cool story from the University of Miami's Miller School of Medicine about how the research team came together.
The Rare Diseases Network is looking for participants in a new study looking for unknown causes of the most common types of CMT.
The Inherited Neuropathy Consortium (INC) is asking for CMTers with a COVID diagnosis to take an anonymous questionnaire.
Even though the measurable electrophysiological impact of CMT1A is high, the subjective level of experienced disability is pretty low, given the ways you can learn to compensate.
A recent study published in the Journal of Clinical Investigation looked at two unrelated families with CMT2 and identified "autosomal dominant mutations of the canonical Notch ligand Jagged1 (or JAG1)" in them — a likely cause for their CMT that was also backed up by experiments in mice. The CMT News site covers this in… Continue reading Genetic Cause of CMT2 Discovered?
Acceleron Pharma Inc's ACE-083 drug trials "did not achieve statistically significant improvements in functional endpoints relative to placebo" with CMT patients, so it will no longer be developed.
Science is starting to confirm very wide ranging effects to the nerve damage CMT does, often slowly and over time so it may not be very noticeable for many years.
Here's an informative article from the Hereditary Neuropathy Foundation (HNF) about current best practices in genetic diagnosis of CMT. A lot of examples are given of people with less common subtypes who waited a long time to get properly diagnosed — sometimes after many years of wrong diagnoses or none at all. Today the best… Continue reading New genetic diagnostics for CMT
After the setback of having to do a second Phase 3 clinical trial, Pharnext's ongoing drug trials for PXT3003 show positive results in people with CMT1A.