The Natural History of TRPV4 Neuropathy

Launched by JOHNS HOPKINS UNIVERSITY · Oct 27, 2022

Keywords

ClinConnect Summary

This clinical trial, called "The Natural History of TRPV4 Neuropathy," aims to study how symptoms progress in patients with a specific genetic mutation known as TRPV4. Researchers are looking for individuals aged 3 to 80 who either have this mutation or a close family member who does, and who show signs of the related condition. The study will take place over six years, requiring participants to visit Johns Hopkins once a year for check-ups.

If you or someone you know has been diagnosed with a TRPV4 gene mutation, you may be eligible to join this study. Participants will help researchers understand how the disease develops and changes over time. It’s important to note that those with other significant neurological issues may not qualify. This trial is an opportunity to contribute to important research that could benefit many people affected by this condition.

Gender

ALL

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.