NCT06052631 · National Center for Complementary and Integrative Health (NCCIH)
Microneurographic Assessment of Peripheral Nerves in Healthy Volunteers and Individuals With Sensory Dysfunction Caused by Inherited Mutations in the PIEZO2 Gene
What this study is about
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.
View original scientific 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.
Who can participate
This study lists these criteria on ClinicalTrials.gov. A study coordinator reviews eligibility during screening — this page does not determine whether you qualify.
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.
Where
- Bethesda, Maryland
Frequently asked questions
What is a clinical trial?
A clinical trial is a research study that tests new medical treatments, drugs, devices, or procedures to determine their safety and effectiveness. Trials are carefully designed and monitored to protect participants while advancing medical knowledge.
Is it safe to participate?
Clinical trials follow strict safety guidelines and ethical standards. Trials must be reviewed and approved, and participants are closely monitored by medical professionals throughout the study. You can withdraw at any time if you choose.
Will I be compensated?
Many clinical trials offer compensation for your time, travel expenses, and inconvenience. The specific compensation varies by study and will be discussed during the screening process. All study-related medical care is typically provided at no cost to participants.
Will I receive a placebo instead of treatment?
When effective treatment exists, participants typically receive either the standard treatment plus the study intervention, or the standard treatment plus placebo. You would not be denied effective care. Placebos are primarily used when no proven treatment is available, or in addition to standard care. Your trial consent form will clearly explain what treatments you may receive.
Can I leave a trial if I change my mind?
Absolutely. Participation in clinical trials is completely voluntary. You have the right to withdraw from the study at any time, for any reason, without penalty or loss of benefits to which you are otherwise entitled.
How long does a clinical trial last?
Trial duration varies widely depending on the study design and purpose. Some trials last just a few weeks, while others may continue for months or years. The study coordinator will provide specific timeline information during your screening call.
Data: ClinicalTrials.gov · synced Jul 10, 2026 · Source of record for eligibility and locations