Category: Research
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A new discovery of a genetic cause (and likely cure) for a previously unknown subtype of CMT2
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.
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New Study of Genetic Causes of CMT Needs Participants
The Rare Diseases Network is looking for participants in a new study looking for unknown causes of the most common types of CMT.
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CMT and COVID-19
The Inherited Neuropathy Consortium (INC) is asking for CMTers with a COVID diagnosis to take an anonymous questionnaire.
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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.
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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…
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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.
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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.
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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…
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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.
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Should I 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.
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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.
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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.