The Natural History of TRPV4 Neuropathy

What this study involves

The registry says this study is recruiting. Individual locations may have different availability.

Study type

Observational

Phase

Not applicable / not listed

Age range

3 years - 80 years

Sex eligible

All sexes

Healthy volunteers

Not accepted

Participants

70 Estimated

These are starting points, not an eligibility decision. The research team must review the full requirements.

About the research

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.

Who may be able to participate?

The list below is the sponsor’s full registry wording. It can include conditions, prior treatment, test results and other requirements. A match in search does not mean you qualify.

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.

Study population

Juveniles and adults with a confirmed genetic mutation in the transient receptor potential cation channel subfamily V member 4 (TRPV4) gene and clinical symptoms consistent with TRPV4-associated disease which can be known as Charcot-Marie-Tooth disease 2C, scapuloperoneal spinal muscular atrophy, or congenital distal spinal muscular atrophy.

Treatment, groups and participation

The registry may describe treatments and study duration without a complete visit calendar. Ask the study team for the exact schedule, procedures, risks, costs and alternatives. Keep your usual care plan unless your treating clinician tells you otherwise.

Assignment

Not reported

Masking

Not reported

What researchers are measuring

Outcome measures describe what is being studied. They are not proof that a treatment works.

Primary measures

Research locations (1)

The overall study status and a local site’s status can differ. Confirm that location’s availability before traveling.

1 locations

Study team and timeline

Lead sponsor

Johns Hopkins University

Study start

Dec 15, 2023 Actual

Primary completion

2033-12 Estimated

Study completion

2048-12 Estimated

First posted

Oct 31, 2022 Actual

Last updated

Nov 10, 2026 Actual

Official study contacts