Documenting the natural history of TRPV4 neuropathy

The Natural History of TRPV4 Neuropathy

This study is tracking how symptoms change over time in people with a specific genetic mutation linked to neuropathy to help understand the condition better and guide future treatments.

Quick facts

• Study type: Observational
• Enrollment: 70 (estimated)
• Ages: 3 Years to 80 Years
• Sex: All
• Sponsor: Johns Hopkins University (Academic / other)
• Locations: 1 site (Baltimore, Maryland)
• Trial ID: NCT05600764 on ClinicalTrials.gov

What this trial studies

This research aims to document the natural history of neuropathy in patients with a confirmed genetic mutation in the TRPV4 gene over a six-year period. Participants will undergo annual visits at Johns Hopkins to monitor symptoms and disease progression, which can vary significantly among individuals. The study seeks to gather comprehensive data on the frequency and severity of symptoms associated with TRPV4-related conditions, which include various forms of inherited neuropathy. This information is crucial for designing future clinical trials to evaluate potential treatments targeting TRPV4.

Who should consider this trial

Good fit: Ideal candidates include individuals aged 3-80 years with a documented mutation in the TRPV4 gene or those with a first-degree relative who has a confirmed mutation and related clinical symptoms.

Not a fit: Patients without a confirmed TRPV4 gene mutation or those with variants of unknown significance may not benefit from this study.

Why it matters

Potential benefit: If successful, this study could provide valuable insights into TRPV4-associated diseases, potentially leading to improved treatment strategies.

How similar studies have performed: While there have been many case reports on TRPV4-associated diseases, this study represents a novel approach to understanding the natural history of the condition in a large cohort.

Eligibility criteria

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.

Where this trial is running

Baltimore, Maryland

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

Study contacts

• Principal investigator: Charlotte Sumner, MD — Johns Hopkins University
• Study coordinator: Betty Hu

Conditions TRPV4 Gene Mutation