CMT2A: two important new studies on the pathology


Thanks to CMT France magazine, we are able to inform you about two interesting updated studies on Charcot Marie Tooth type 2A .

As pointed out by the French association, our partner for several years, in order to foresee a future clinical trial, it is essential to know precisely the evolution of CMT2A on a large number of people.

The first, just published by the Inherited Neuropathy Consortium, is the largest clinical trial on CMT2A: 96 patients were recruited and observed over a period of one to two years.

As CMT France said, “this work provides valuable genetic information to facilitate the diagnosis of the disease. The researchers also measured the evolution of disease impact scores (Cmtesv2 and Cmtpeds), which can be used in a possible clinical study.

Follow-up data allowed them to estimate the number of patients to include in a future clinical trial to be sure they would identify the beneficial effects of a drug candidate (262 people for a one-year trial or 106 for a two-year trial. years).

The same data also underline the need for specific studies during childhood and adolescence. In fact, in the study, the first symptoms appeared before the age of 20 in at least 160 people; for which the evolution of the disease is usually more severe (more people use a wheelchair)”.

The second study, on the other hand, is a French research on children.

Clinical Phenotype in an Early-Onset French Pediatric Population: Charcot-Marie-Tooth’s Disease Type 2A

French doctors published a study on 13 children with CMT2A whose symptoms appeared before the age of 10 and who were followed for up to 8 years in referral centers for neuromuscular diseases. For these young patients, the evolution of the disease was rapid in 3 children (wheelchair use occurred 10-11 years after the onset of the first symptoms), while it remained stable in 8 others (without the need for help with walking despite difficulties).

We advise you to deepen the reading of these two important studies and we thank CMT France!

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