News about Charcot Marie Tooth (CMT), neuropathic disorders, and neuromuscular diseases.
I wrote this brief article on the way the SORD gene works (or fails to work) for the Hereditary Neuropathy Foundation. SORD mutations cause "the most common autosomal recessive form of CMT2 (CMT2A1), autosomal recessive intermediate CMT (CMTRIA), and the overlapping category of distal hereditary motor neuropathy (dHMN)."
At some point I'd like to create a page of CMT resources in Canada just to present that all in one place. If you have anything or anyone you think should be on the list, please let me know! 📣
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.
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.
A few weekends ago, I listened to the HNF webinar on COVID-19 and CMT with Dr. John Bach of Rutgers University Medical School, a leader in the field of pulmonary rehabilitation, particularly for people with neuromuscular diseases. You can watch it and get a bunch of other materials now — for free — thanks to the HNF.
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.
This is a great, short video that explains the basics of CMT — made by students at the University of Greenwich for the first "Rare Film Festival," put on by Rare Disease UK.
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.
Some recent studies on obstructive sleep apnea got attention for concluding something fairly obvious — losing weight and reducing fat in the tongue might be the best treatment for OSA.
