The purpose of this study is to observe and understand the progression of CMT4J over time. By tracking the natural course of the disease, researchers aim to discover how CMT4J affects individuals and to identify reliable measures of disease progression. CMT4J is a rare and poorly understood condition. By learning more about the disease’s natural history, this study seeks to fill critical knowledge gaps, which could lead to better care and potential treatments. Participation in this study is a chance to contribute to research that may improve the lives of those affected by CMT4J.
Elpida Therapeutics SPC will serve as the sponsor and the study will be conducted at four U.S. sites (University of Texas Southwestern, University of Iowa, the National Institutes of Health, and Stanford University).
Participants will be evaluated every 12 months for up to 5 years. These evaluations will include physical and neurological exams, laboratory tests, measures of CMT outcomes and disability, neuropsychological tests, nerve conduction studies, muscle MRI, pulmonary function tests, and scoliosis series x-rays.
The study seeks to enroll 20 individuals of any age who have a genetically confirmed diagnosis of CMT4J.
If you or a family member has been diagnosed with CMT4J and are interested in participating or want further information, please contact Elpida Therapeutics at studyinfo@elpidatx.com. Be sure to mention “CMTA Patients as Partners in Research” when you reach out. For detailed study information, please refer to the clinical trial listing at https://clinicaltrials.gov/ct2/show/NCT06151600.