The Natural History of TRPV4 Neuropathy

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.

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) ORThe 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.