Status:
RECRUITING
Microneurographic Assessment of Peripheral Nerves in Healthy Volunteers and Individuals With Sensory Dysfunction Caused by Inherited Mutations in the PIEZO2 Gene
Lead Sponsor:
National Center for Complementary and Integrative Health (NCCIH)
Conditions:
PIEZO2-Deficiency Syndrome
Eligibility:
All Genders
18-100 years
Brief Summary
Background: PIEZO2 Deficiency Syndrome (PDS) is a genetic disorder that affects a person s ability to feel touches and pain. Researchers want to know more about how PDS changes nerve function. Objec...
Detailed Description
Study Description: The study aims to characterize peripheral nerve function and physiology in healthy participants and participants with inherited mutations in the PIEZO2 gene (otherwise known as PIE...
Eligibility Criteria
Inclusion
- INCLUSION CRITERIA:
- In order to be eligible to participate in this study, an individual must meet all of the following criteria:
- All Participants
- Stated willingness to comply with all study procedures and availability for the duration of the study
- Male or female, aged 18 years and over.
- The ability to provide written informed consent.
- Enrolled in 16-AT-0077, "Clinical and Scientific Assessment of Pain and Painful Disorders".
- PDS Patients
- Clinical and genetic diagnosis of PIEZO2-LOF.
- Healthy participants
- In good general health as evidenced by medical evaluation under 16-AT-0077.
- EXCLUSION CRITERIA:
- All Participants:
- Difficulties with communication that make subjective innocuous and pain assessments impossible or unreliable.
- Unable to comply with study procedures or visits.
- Has a dermatological condition that might influence cutaneous sensitivity.
- Congenital limb deficiency or amputation of any limb.
- Prior history of syncope.
- Peripheral neuropathy or current chronic pain condition or has had chronic pain in the past year (painful condition lasting more than six months), including ongoing treatment with medications for neuropathic pain (e.g. gabapentin, tricyclic antidepressants, pregabalin, tramadol).
- Has a major medical condition, such as kidney, liver, cardiovascular, autonomic, pulmonary, or neurological problems (e.g., epilepsy) or a chronic systemic disease (e.g., diabetes), or Raynaud's Disease.
- Current and untreated diagnosis of depression, post-traumatic stress, syndrome, bipolar disorder, psychosis, anxiety or panic disorder, alcohol or substance use disorders.
- Pregnant (verbal confirmation) or breastfeeding.
- Are participating in other ongoing research protocols involving interventions that would interfere with somatosensation.
- Employees or staff that work at NCCIH.
- Adults who are unable to provide their own consent.
Exclusion
Key Trial Info
Start Date :
January 14 2026
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
December 31 2026
Estimated Enrollment :
16 Patients enrolled
Trial Details
Trial ID
NCT06052631
Start Date
January 14 2026
End Date
December 31 2026
Last Update
January 9 2026
Active Locations (1)
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1
National Institutes of Health Clinical Center
Bethesda, Maryland, United States, 20892