Recruiting

Observational Study

Sponsor:

Johns Hopkins University

Code:

NCT05600764

Conditions

TRPV4 Gene Mutation

Eligibility Criteria

Sex: All

Age: 3 - 70+

Healthy Volunteers: Not accepted

Study Details

Brief 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

Study ID

NCT05600764

Start date

Dec 15, 2023

Status verified date

Nov, 2025

Completion date

Dec, 2048

Anticipated

Primary completion date

Dec, 2033

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 3 - 70+

Healthy Volunteers: Not accepted

Inclusion Criteria:

  • 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.

Exclusion Criteria:

  • 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.

Study Design

Enrollment

70 participants

Anticipated

Interventions and Outcome Measures

Primary outcome measure

  • Tracking the severity of overall neuropathy symptoms [ Time Frame: Annually for 6 years ]
  • Tracking the progression of the disease using functional measures [ Time Frame: Annually for 6 years ]
  • Tracking the severity of limitations caused by neuropathy [ Time Frame: Annually for 6 years ]
  • Tracking the severity of disease in pediatric patients [ Time Frame: Annually for 6 years ]

Central Contacts and Locations

Central contacts

Betty Hu

443-250-4699xhu38@jhu.edu

Simone Thomas

(410) 614-4188sthom125@jhmi.edu

Locations

Johns Hopkins

Recruiting

Baltimore, Maryland, United States, 21287

Contacts

Betty Hu

410-502-2705xhu38@jhu.edu

More Information

Sponsor

Johns Hopkins University

Last update posted

Nov 4, 2025

Last verified

Nov, 2025

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by Johns Hopkins University on 2025-11-04.