The CMTA Inherited Neuropathy Consortium Alliance (CMTA-INC) has enrolled its 10,000th patient, marking a major milestone in the search for treatments for a rare disease affecting 1 in 2,500 people.
CMTA-INC is a global network of academic medical centers dedicated to advancing Charcot-Marie-Tooth (CMT) research and improving patient care. Through these centers, thousands of people with CMT participate directly in ongoing studies.
This network, stretching from the U.S. to Europe to Australia, has transformed our understanding of CMT. Since its inception, the INC has:
- Discovered 30 CMT-causing genes, helping families find answers through accurate diagnoses
- Published over 300 peer-reviewed studies exploring why symptoms vary, how rarer forms develop, and how to better evaluate CMT symptoms in children
- Paved the way for clinical trials across multiple subtypes, including CMT1A, CMT1B, CMT2A, CMT4C, and CMT-SORD
- Trained more than 20 early-career investigators, including 11 CMTA-INC Fellows, ensuring the future of CMT care and research
- Developed the majority of outcome measures currently used in clinical trials
How real-world patient data fuels discovery
CMTA-INC’s research relies on a clinical registry that tracks CMT symptoms, strength, functioning, and more from enrolled patients during routine check-ups. The information from thousands of these visits is compiled into a single anonymous dataset that reveals the story of CMT.
This large dataset does several things a single study cannot. It shows how CMT progresses over time, what researchers call its natural history. It allows researchers to define and compare CMT subtypes, many of which are too rare to study otherwise, and build the measures and tools required for successful clinical trials.
Sustaining the science: CMTA’s commitment to continuing the INC
Led by Michael Shy, MD, at the University of Iowa, the INC launched in 2009 as part of the National Institutes of Health (NIH) Rare Diseases Clinical Research Network with CMTA providing supportive funding over the years. In 2024, NIH funding ended because its rules limit network funding to 15 years.
To keep the momentum going, CMTA announced a strategic alliance with INC in November 2024. CMTA commits $1.2 million annually to ensure critical INC research continues without pause.
Looking for patient 10,001. Is that you?
Because CMT is rare, and many of its subtypes are rarer still, every patient involved in research counts.
Here is how you can take part in CMT research:
By translating patient data into strong science, the CMTA-INC Alliance demonstrates the power of the collective to turn individual experiences into life-changing progress for everyone living with CMT.
The information provided here is for informational purposes only and does not constitute medical advice. The CMTA does not endorse any specific products or treatments for CMT. Please consult your doctor before making any healthcare decisions.
