NCT05600764 · Johns Hopkins University
The Natural History of TRPV4 Neuropathy
What this study 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.
View original scientific description
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.
Primary outcome measures
Tracking the severity of overall neuropathy symptoms
Time frame: Annually for 6 years
The Charcot Marie Tooth neuropathy score (CMTNS) which is an overall score that incorporates the sub-scores of Charcot Marie Tooth exam score (CMTES) and the Charcot Marie Tooth symptom score (CMTSS) which are all assessed at once. The minimum score is 0, the maximum score is 20, and higher scores indicate more severe disease.
Tracking the progression of the disease using functional measures
Time frame: Annually for 6 years
The Charcot Marie Tooth functional outcome measure (CMT-FOM) uses a variety of functional tests and questions about symptoms to measure the disease progression of the neuropathy. The minimum score is 0, the maximum score is 52, and higher scores indicate more severe disease.
Tracking the severity of limitations caused by neuropathy
Time frame: Annually for 6 years
The Overall Neuropathy Limitations Scale (ONLS) tracks how patients are limited by their neuropathy in certain tasks and movements. The scale goes from 0 (meaning no disability) to 12 (meaning maximum disability).
Tracking the severity of disease in pediatric patients
Time frame: Annually for 6 years
The Charcot Marie Tooth pediatric scale (CMTPeds) will be used for patients between 4 and 18 years of age. The minimum score is 0, the maximum score is 44, and higher scores indicate more severe disease.
Who can participate
This study lists these criteria on ClinicalTrials.gov. A study coordinator reviews eligibility during screening — this page does not determine whether 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.
Where
- Baltimore, Maryland
Collaborators
Muscular Dystrophy Association, Actio Biosciences, Inc.
Related conditions & keywords
Frequently asked questions
What is a clinical trial?
A clinical trial is a research study that tests new medical treatments, drugs, devices, or procedures to determine their safety and effectiveness. Trials are carefully designed and monitored to protect participants while advancing medical knowledge.
Is it safe to participate?
Clinical trials follow strict safety guidelines and ethical standards. Trials must be reviewed and approved, and participants are closely monitored by medical professionals throughout the study. You can withdraw at any time if you choose.
Will I be compensated?
Many clinical trials offer compensation for your time, travel expenses, and inconvenience. The specific compensation varies by study and will be discussed during the screening process. All study-related medical care is typically provided at no cost to participants.
Will I receive a placebo instead of treatment?
When effective treatment exists, participants typically receive either the standard treatment plus the study intervention, or the standard treatment plus placebo. You would not be denied effective care. Placebos are primarily used when no proven treatment is available, or in addition to standard care. Your trial consent form will clearly explain what treatments you may receive.
Can I leave a trial if I change my mind?
Absolutely. Participation in clinical trials is completely voluntary. You have the right to withdraw from the study at any time, for any reason, without penalty or loss of benefits to which you are otherwise entitled.
How long does a clinical trial last?
Trial duration varies widely depending on the study design and purpose. Some trials last just a few weeks, while others may continue for months or years. The study coordinator will provide specific timeline information during your screening call.
Data: ClinicalTrials.gov · synced Nov 4, 2025 · Source of record for eligibility and locations