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CMT news & CMTFOI newsletter

Time-sensitive news, research updates and Foundation events. Everything here is reviewed by CMTFOI before publication and appears newest first.

Research Updates

New publications, clinical-trial developments and research announcements.

Latest News · Research UpdatesResearch

Study Discusses PCR-RFLP as a Screening Method for CMT1A

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).

PubMed / NCBI

Latest News · Research UpdatesResearch

Study Explores How Two New GJB1 Gene Variants Cause CMTX1

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).

PubMed / NCBI

Research Updates · Latest NewsResearch

Study tracks 10 years of global research trends in Charcot-Marie-Tooth disease

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.

PubMed / NCBI

Research UpdatesResearch

Clinical Trials Registry — India (CTRI)

The official Indian registry of clinical trials. Search for 'Charcot-Marie-Tooth' or 'neuropathy' to see studies recruiting within India.

ICMR — National Institute of Medical Statistics

Research UpdatesResearch

Inherited Neuropathy Consortium (INC)

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.

Rare Diseases Clinical Research Network

Research UpdatesResearch

PMP22-lowering approaches for CMT1A

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.

Multiple academic and industry groups

Research UpdatesResearch

Genetic diagnosis and data collection in India

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.

Indian academic neurology and genetics centres

Research UpdatesResearch

CMTFOI patient registry and community research

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

CMT Veda AI provides education and awareness only. It does not diagnose any condition and is not a substitute for care from a qualified clinician.