A research paper evaluated PCR-RFLP, a standard DNA testing technique, as an accessible genetic screening method for hereditary neuropathies, including Charcot-Marie-Tooth type 1A (CMT1A).
A study combining a retrospective review of eight male patients and laboratory cell experiments investigated two newly identified gene variants in the GJB1 gene, which causes Charcot-Marie-Tooth disease X-linked Type 1 (CMTX1).
A bibliometric analysis—a type of study that tracks and measures published scientific literature—analyzed 1,531 CMT articles published between 2014 and 2024. The study showed steady growth in CMT research worldwide, with a strong focus on genetics, molecular diagnosis, and newer topics like advanced DNA sequencing.
A long-running international effort to describe how CMT subtypes change over time and to validate outcome measures such as the CMT Neuropathy Score, which future trials depend on.
Because CMT1A is caused by an extra copy of PMP22, several programmes aim to reduce PMP22 expression using gene therapy, RNA-targeted approaches or small molecules. Progress and results vary by programme.
Indian centres continue to publish on the genetic spectrum of inherited neuropathies in Indian families. Broader participation improves how well future therapies fit Indian patients.
CMTFOI gathers the lived experience of Indian patients and families to guide awareness, advocacy and future research participation. Contact the foundation to take part.
Charcot-Marie-Tooth Foundation of India
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