The Natural History of TRPV4 Neuropathy
NCT05600764 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 70
Last updated 2025-11-04
Summary
The goal of this research is to document the natural history of neuropathy in patients with a confirmed genetic mutation in the TRPV4 gene. The investigators are searching for patients willing to participate in a 6-year long study to document the symptoms of TRPV4-associated disease and their progression over time. Participation requires annual study visits at Johns Hopkins for adult and juvenile participants.
Conditions
- TRPV4 Gene Mutation
Sponsors & Collaborators
-
Muscular Dystrophy Association
collaborator OTHER -
Actio Biosciences, Inc.
collaborator INDUSTRY - lead OTHER
Principal Investigators
-
Charlotte Sumner, MD · Johns Hopkins University
Eligibility
- Min Age
- 3 Years
- Max Age
- 80 Years
- Sex
- ALL
- Healthy Volunteers
- No
Timeline & Regulatory
- Start
- 2023-12-15
- Primary Completion
- 2033-12-31
- Completion
- 2048-12-31
Countries
- United States
Study Locations
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