Biomarkers and Natural History Archives

ACT-CMT: The Largest-Ever Study of CMT Opens [Casting] Call for More Participants

Participant undergoes clinical strength and reflex testing during a CMTA-supported ACT-CMT study visit, highlighting patient involvement in Charcot-Marie-Tooth research.

The largest CMT1A study is expanding. New participants needed, including healthy volunteers. You can move this research forward.

How the CMT2C Community Is Driving the Path to Treatment

CMTA Patients as Partners in Research and ActioBiosciences

How is the CMT2C community helping move research forward? A CMTA-hosted focus group on how patient voices are shaping the path to a treatment.

ACT-CMT: CMT1A Natural History Study, Long-Term Progression, and Biomarkers

With $1.2M in CMTA funding, the ACT-CMT study is tracking long-term CMT1A progression and advancing biomarker development to prepare for future clinical trials.

CMT2A Biomarkers and Natural History

Close-up of a hand pinching a DNA double helix between the thumb and forefinger against a bright blue sky, highlighting DNA and genetics with a scientific context.

With CMTA support of $572,055, researchers at the Inherited Neuropathy Consortium led by Michael E. Shy, MD, are working to track disease progression and identify biomarkers in CMT2A. By studying blood, skin biopsy, and MRI biomarkers alongside clinical assessments, this project aims to develop critical tools for future clinical trials and advance CMT2A research.

Building the Largest CMT Patient Data Set

Blue-tinted microscopic fibers with textured surfaces resembling chromosomes, glowing softly against a cyan background, evoking a scientific, high-tech atmosphere.

CMTA has committed $206,000 over three years to support the Inherited Neuropathy Consortium (INC) in advancing CMT research. Since September 2022, this funding has sustained 20 clinical sites, supported over 20 scientific publications, and enabled large-scale natural history studies of CMT1B and CMT1X. With more than 7,000 patients enrolled, INC’s data set is critical for future clinical trials and Investigational New Drug (IND) approvals.

Measurement of muscle fat fraction in calf and thigh muscle in patients with CMT4J

Colorful metallic DNA strands and precision tools in a vivid abstract background, referencing CMTA and Elpida Therapeutics and the CMT4J research field.

With CMTA support of $149,443, researchers at Elpida Therapeutics are investigating muscle fat fraction (MFF)...

CMTA Board Approves $207,018 Grant to INC For Additional Clinical Trial Prep

CMTA approved a $207,018 grant to the Inherited Neuropathy Consortium (INC) to support additional clinical trial preparation work, including outcome measure and biomarker development, across multiple INC sites.