RecruitingTRPV4 Gene Mutation
The Natural History of TRPV4 Neuropathy
Eligible age
3–80 yrs
Accepts
All genders
Locations
1 state
Healthy volunteers
No
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About this study
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.
Sponsor: Johns Hopkins University
You may qualify if…
- ✓ Patient is aged 3-80 years with a documented mutation in the TRPV4 gene and a clinical phenotype consistent with TRPV4-associated disease (as determined by the investigator) OR
- ✓ The patient has a first-degree relative (parent, child, sibling, half-sibling, aunt, uncle, grandparent, or grandchild) with a documented disease-causing mutation AND a clear link between that family member and the affected patient AND a clinical phenotype consistent with TRPV4-associated disease.
- ✓ Patients with a variant of unknown significance in TRPV4 and a clinical phenotype possibly consistent with TRPV4-associated disease will be eligible for initial enrolment, but continued eligibility will be determined based on whether the observed clinical phenotype is consistent with TRPV4-associated disease (as determined by the investigator).
- ✓ Participant or legal guardian for patients under 18 years of age is capable of giving signed informed consent.
You may not qualify if…
- ✕ Medical history of other concomitant neurological disease or clinically significant physical exam/laboratory result that, in the opinion of the investigator, would render the patient being unsuitable for the study.
- ✕ Patients with a TRPV4 variant of unknown significance who are initially enrolled but then deemed to be unlikely to have a phenotype consistent with TRPV4-associated disease will no longer be eligible and their clinical data will be deleted.
Where it's recruiting
Maryland
Baltimore
Source: ClinicalTrials.gov · NCT05600764 · last updated 2025-11-04