Microneurographic Assessment of Peripheral Nerves in Healthy Volunteers and Individuals With Sensory Dysfunction Caused by Inherited Mutations in the PIEZO2 Gene

Starting soon

Conditions studied: PIEZO2-Deficiency Syndrome

In brief

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. Objective: To compare nerve function in people with PDS to that in people without PDS. Eligibility: People aged 18 years and older with PDS enrolled in protocol 16-AT-0077. Healthy volunteers are also needed. Design: Participants will have at least 1 clinic visit. They will undergo a test that measures activity in the nerves. For the test: Participants will place their arm or leg in a comfortable position. Ultrasound will be used to locate nerves. A smooth wand will be slid over the skin to capture images of the structures below. Two thin needles will be inserted through the skin. These needles are much smaller than the kind used to draw blood. The needles will record nerve activity as different sensations are applied to the skin. These include mild electrical pulses; heat and cold; bending of the knee or elbow; vibration; air puffs; pulling a hair; and tapping, stroking (brushing), stretching, pinching, and pushing on the skin at different levels of force. Each test takes 5 to 10 minutes. Participants will describe the sensations they feel. Participants may opt for an additional test that measures how nerves respond after heat pulses are used to create mild redness on the skin. Researchers would like at least 2 tests from each person. Participants may return for up to 3 additional visits, if desired, to complete all the testing.

Key facts

Study ID

NCT06052631

Run by

National Center for Complementary and Integrative Health (NCCIH)

People needed

16

Starts

2026-08-13

Expected to finish

2026-12-31

Last updated by the study team

2026-08-10

Who can join

Age: 18 and older, up to 100. Sex: any. Healthy volunteers: not accepted.

You may not qualify if…

• 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.

Where it is running

• National Institutes of Health Clinical Center — Bethesda, Maryland, United States

Full record on ClinicalTrials.gov

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