The Inherited Neuropathy Consortium (INC) is asking for CMTers with a COVID diagnosis to take an anonymous questionnaire.
CMT and COVID-19
Category: Research
Summaries and explanations of new research aimed at identifying the causes of and cures for Charcot Marie Tooth disease (CMT).
CMT’s Impact on Quality of Life Can Be Slight
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.
Genetic Cause of CMT2 Discovered?
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?
ACE-083 Trials Show no Benefit
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.
CMT and Respiratory Dysfunction
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.
New genetic diagnostics for CMT
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”
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
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.
Respiratory Problems and CMT
Earlier in life, relatively healthy people with CMT can overlook signs of compromised respiratory function which will start to cause more and more problems for them later.
Sleep Apnea and CMT
Studies show CMT tends to come with Disturbed Sleep, Depression, and Reduced Quality of Life. 😞 This post summarizes the scientific research I've absorbed on the subject of CMT and sleep apnea. It's definitely accurate relative to my own experience in the past year or so.
The State of Research for Cures (2019)
The US-based CMTA (Charcot Marie Tooth Association) has a 12-year-old program called the Strategy to Accelerate Research (STAR) that is actively pursuing the causes and possible cures for CMT. STAR will cover nearly all CMT Type 1s and 2s, including types with as yet unidentified genetic causes.
