The Charcot Marie Tooth Association patient registry – Patients as Partners in Research


Clinical Trials

Poster Number: 77


Katherine Forsey, PhD, BSc (Hons), Charcot-Marie-Tooth Association, Amy Gray, Charcot-Marie-Tooth Association (CMTA)

Charcot-Marie-Tooth disease (CMT) is a hereditary motor and sensory neuropathy affecting 1 in 2500 people, approximately 3 million world-wide. The CMT Association (CMTA) is the largest philanthropic funder of CMT research and largest CMT patient-focused advocacy group. From this unique position, the CMTA launched the ‘Patients as Partners in Research’ quality improvement initiative in 2018 with a goal of advancing the CMTA’s Strategy to Accelerate Research (STAR) through enrolling the patient community in the development of treatments, and ultimately a cure, for CMT.

This is the first publication of CMTA ‘Patients as Partners’ registry data. By October 2022, 6091 individuals created a Patients as Partners in Research Profile via secure online questionnaire. Analysis of the anonymized data shows average (mean) age is 47.7 years (SD 22.3, range 8 months to 105 years, n=1961). 5911 individuals (97%) shared data on CMT type, distributed as, Type 1 35.3% (n=2085), Type 2 16.6% (n=980), Type X 4.3% (n=252), Type 4 2.8% (n=167), HNPP 0.9% (n=53), GAN 0.03% (n=2) and 40.1% (n=2369) do not know their type. 4034 individuals (66%) shared data on CMT subtype, 47 different sub-types are represented. The largest subtype groups are CMT1A 39.4% (n=1590), CMT2A 7.4% (n=297), CMT1X 5.1% (n=204), CMT1B 4.2% (n=170), CMT4C 1.6% (n=63) and 32.0% (n=1291) reported undiagnosed/unknown. Average (mean) age at diagnosis is 31.9 years (SD 20.9, range 0 to 81 years, n=1494). Additional questions will be added to the questionnaire during 2022, newly available data will be presented at the MDA conference.

The CMTA’s growing patient registry represents one of the largest available collections of CMT patient data, it is a valuable tool for engagement and clinical trial recruitment. We share a summary of the data, real-world examples of how Patients as Partners has supported successful research via clinical trials and highlight opportunities for collaboration.