Actively Recruiting
A Prospective Natural History and Outcome Measure Discovery Study of Charcot-Marie-Tooth Disease, Type 4J
Led by Elpida Therapeutics SPC · Updated on 2026-01-22
20
Participants Needed
3
Research Sites
52 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
Researchers are conducting a multicenter, prospective observational study to understand the natural history of Charcot-Marie-Tooth Disease, Type 4J (CMT4J), a rare neurodegenerative and neuromuscular condition confirmed by specific genetic testing. The study will enroll 20 participants of any age who have a molecularly confirmed diagnosis of CMT4J. The purpose is to collect detailed health information and disease progression data over time, without providing any investigational treatments. Participants will follow a uniform protocol with visits scheduled every 12 months plus a 4-week window, for up to 2 years. At each visit, researchers will collect demographic and medical history data, perform physical and neurological exams, standard lab tests, and use several disease outcome measures. Additional assessments may include neuropsychological tests, nerve conduction studies, muscle MRI, pulmonary function tests, and scoliosis x-rays. Early termination visits are planned if participants leave before completing the study. Throughout the study, participants will undergo thorough evaluations to monitor their condition and collect data relevant to CMT4J progression. This includes clinical exams, imaging, lab tests, and questionnaires. Researchers will use this information to study disease patterns and outcomes over the 2-year follow-up period. No investigational products are administered, and visits may be unscheduled if necessary with approval. Participants are expected to comply with study procedures and travel requirements.
CONDITIONS
Brief Title
A Prospective Natural History and Outcome Measure Discovery Study of Charcot-Marie-Tooth Disease, Type 4J
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Male or female, all ages
- Molecularly confirmed diagnosis of CMT4J by certified genetic testing
- Informed consent from adults or caregivers; assent from minors where applicable
- Able and willing to comply with study protocol, including travel and visits
You will not qualify if you...
- Known genetic abnormalities that affect clinical presentation
- Current participation in another interventional or therapeutic study
- Received investigational drug within 90 days before baseline
- Prior or current gene or stem cell therapy
- Other diseases interfering with CMT4J assessment
- Any condition making participation unsuitable or interfering with study completion
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
Duration - Up to 2 years
Participants with a confirmed diagnosis of CMT4J are observed over time to collect natural history data including physical and neurological exams, laboratory tests, outcome and disability measures, neuropsychological tests, nerve conduction studies, imaging, pulmonary function tests, and x-rays.
Annual visits every 12 months plus 4 weeks for up to 2 years with an early termination visit if needed
Trial Site Locations
Total: 3 locations
1
Stanford University
San Francisco, California, United States, 94305
Actively Recruiting
2
University of Iowa
Iowa City, Iowa, United States, 52242
Actively Recruiting
3
University of Texas Southwestern
Dallas, Texas, United States, 75390
Actively Recruiting
Research Team
R
Rachel Thomas, RN
K
Keith Gottlieb, Ph.D
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
0
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