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

NCT06052631 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 16

Last updated 2026-05-22

No results posted yet for this study

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.

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.

Conditions

  • PIEZO2-Deficiency Syndrome

Sponsors & Collaborators

  • National Center for Complementary and Integrative Health (NCCIH)

    lead NIH

Principal Investigators

  • Miroslav Backonja, M.D. · National Center for Complementary and Integrative Health (NCCIH)

Eligibility

Min Age
18 Years
Max Age
100 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2026-05-27
Primary Completion
2026-12-31
Completion
2026-12-31

Countries

  • United States

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT06052631 on ClinicalTrials.gov