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

Conditions

• PIEZO2-Deficiency Syndrome

Eligibility Criteria

Sex

ALL

Age

18 Years - 100 Years

Healthy Volunteers

Accepted

Study Details

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 Dates

Start date

Jun 16, 2026

Status verified

Dec 2025

Primary completion

Dec 31, 2026

Completion

Dec 31, 2026

Study Design

Enrollment

16 participants (estimated)

Arms

• Arm: Healthy controls
  Healthy participants
• Arm: PIEZO2 Deficiency Syndrome (PDS)
  Participants with a diagnosis of PIEZO2 Deficiency Syndrome; an inherited mutation in the PIEZO2 gene

Primary Outcome Measure

Firing rate (Hz) in response to fast and slow brushing. [ Time Frame: At each visit (max of 4 visits) during microneurography procedure. ]

Central Contacts

• Hayley M Hansen
  (301) 451-2026
  [email protected]
• Miroslav Backonja, M.D.
  (301) 402-5679
  [email protected]

Locations (1)

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