Actively Recruiting
The Natural History of TRPV4 Neuropathy
Led by Johns Hopkins University · Updated on 2025-11-04
70
Participants Needed
1
Research Sites
1302 weeks
Total Duration
On this page
Sponsors
J
Johns Hopkins University
Lead Sponsor
M
Muscular Dystrophy Association
Collaborating Sponsor
AI-Summary
What this Trial Is About
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
Official Title
The Natural History of TRPV4 Neuropathy
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Patient is aged 3 to 80 years with a documented mutation in the TRPV4 gene and clinical symptoms consistent with TRPV4-associated disease
- OR patient has a first-degree relative with a documented TRPV4 mutation and a clear link plus clinical symptoms consistent with TRPV4-associated disease
- Patients with a variant of unknown significance in TRPV4 and possibly consistent symptoms may be initially enrolled; continued eligibility depends on symptom consistency
- Participant or legal guardian can provide signed informed consent if under 18 years old
You will not qualify if you...
- Medical history of other neurological diseases or significant physical exam/lab findings making the patient unsuitable in the investigator's opinion
- Patients with a TRPV4 variant of unknown significance initially enrolled but later deemed unlikely to have TRPV4-associated symptoms will be removed and their data deleted
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
Johns Hopkins
Baltimore, Maryland, United States, 21287
Actively Recruiting
Research Team
B
Betty Hu
CONTACT
S
Simone Thomas
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
0
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