RECRUITING

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

Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

Description

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.

Official Title

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

Quick Facts

Study Start:2025-08-21
Study Completion:2026-12-31
Study Type:Not specified
Phase:Not Applicable
Enrollment:Not specified
Status:RECRUITING

Study ID

NCT06052631

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Ages Eligible for Study:18 Years to 100 Years
Sexes Eligible for Study:ALL
Accepts Healthy Volunteers:Yes
Standard Ages:ADULT, OLDER_ADULT
Inclusion CriteriaExclusion Criteria
  1. * Stated willingness to comply with all study procedures and availability for the duration of the study
  2. * Male or female, aged 18 years and over.
  3. * The ability to provide written informed consent.
  4. * Enrolled in 16-AT-0077, Clinical and Scientific Assessment of Pain and Painful Disorders .
  1. * Difficulties with communication that make subjective innocuous and pain assessments impossible or unreliable.
  2. * Unable to comply with study procedures or visits.
  3. * Has a dermatological condition that might influence cutaneous sensitivity.
  4. * Congenital limb deficiency or amputation of any limb.
  5. * Prior history of syncope.
  6. * 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).
  7. * 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.
  8. * Current and untreated diagnosis of depression, post-traumatic stress, syndrome, bipolar disorder, psychosis, anxiety or panic disorder, alcohol or substance use disorders.
  9. * Pregnant (verbal confirmation) or breastfeeding.
  10. * Are participating in other ongoing research protocols involving interventions that would interfere with somatosensation.
  11. * Employees or staff that work at NCCIH.
  12. * Adults who are unable to provide their own consent.

Contacts and Locations

Study Contact

Hayley M Hansen
CONTACT
(301) 451-2026
hayley.hansen@nih.gov
Alexander T Chesler, Ph.D.
CONTACT
(301) 594-1049
alexander.chesler@nih.gov

Principal Investigator

Alexander T Chesler, Ph.D.
PRINCIPAL_INVESTIGATOR
National Center for Complementary and Integrative Health (NCCIH)

Study Locations (Sites)

National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
United States

Collaborators and Investigators

Sponsor: National Center for Complementary and Integrative Health (NCCIH)

  • Alexander T Chesler, Ph.D., PRINCIPAL_INVESTIGATOR, National Center for Complementary and Integrative Health (NCCIH)

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date2025-08-21
Study Completion Date2026-12-31

Study Record Updates

Study Start Date2025-08-21
Study Completion Date2026-12-31

Terms related to this study

Keywords Provided by Researchers

  • Sensation
  • TOUCH
  • Proprioception

Additional Relevant MeSH Terms

  • PIEZO2-Deficiency Syndrome