The Natural History of TRPV4 Neuropathy

Recruiting now

Conditions studied: TRPV4 Gene Mutation

In brief

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.

Key facts

Study ID

NCT05600764

Run by

Johns Hopkins University

People needed

70

Starts

2023-12-15

Expected to finish

2048-12-01

Last updated by the study team

2025-11-04

Who can join

Age: 3 and older, up to 80. Sex: any. Healthy volunteers: not accepted.

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 is running

• Johns Hopkins — Baltimore, Maryland, United States (enrolling)

Full record on ClinicalTrials.gov

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