The Natural History of TRPV4 Neuropathy
Johns Hopkins University
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.
Description
Genetic variants in the transient receptor potential cation channel subfamily V member 4 (TRPV4) gene are known to cause different forms of inherited neuropathy that can manifest with muscle weakness, sensory loss, and problems with the vocal cords. These different conditions can be referred to as Charcot-Marie-Tooth disease 2C, scapuloperoneal spinal muscular atrophy, or congenital distal spinal muscular atrophy. For unclear reasons, the symptoms vary significantly among the patients, from mild to severe impact and from early childhood onset to adult onset. Research has shown that disease-cau…
Eligibility
- Age range
- 3–80 years
- Sex
- All
- Healthy volunteers
- No
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 consis…
Location
- Johns HopkinsBaltimore, Maryland