News – CMT Blog

Walk4CMT coming up on September 18

August 15, 2021 DanLeave a comment

I will be walking as far as I comfortably can in Muscular Dystrophy Canada's Virtual Walk4CMT on Saturday, September 18 — which is somewhere north of 20km at which point the numbness setting it around 10km usually gets into a little more active pain, thanks of course to the effects of a relatively mild case of CMT2. To make it perhaps extra challenging, I'll be four days off the ol' snip and tuck, but I hope it really will make no vas deferens. 😆 If you already donated, thank you! I am still $45 under my goal of raising $1000, so there is room for more donors.

The first treatable form of CMT?

March 18, 2021 Dan KnaussLeave a comment

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)."

Canadian CMT Resources

March 14, 2021 Dan KnaussLeave a comment

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! 📣

Maybe it will work on CMT..?

July 27, 2020January 1, 2021 Dan1 Comment

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.

New discovery of a genetic cause (and likely cure) for a previously unknown subtype of CMT2

June 9, 2020June 8, 2020 Dan1 Comment

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.

CMT, COVID-19, and Respiratory Health

April 17, 2020April 20, 2020 DanLeave a comment

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.

ACE-083 Trials Show no Benefit

March 12, 2020March 13, 2020 DanLeave a comment

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.

Video short on CMT – Rare Film Festival

March 2, 2020March 2, 2020 DanLeave a comment

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.

New genetic diagnostics for CMT

February 21, 2020February 24, 2020 DanLeave a comment

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

Second Phase 3 Clinical Trial for CMT1A “Pleodrug”

February 17, 2020March 23, 2020 DanLeave a comment

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.

Play the didgeridoo (or harmonica) to fight sleep apnea

February 10, 2020February 24, 2020 Dan2 Comments

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.