Tiny needles probe rare gene disorder that blocks touch
NCT ID NCT06052631
First seen Jun 25, 2026 · Last updated Sep 18, 2026 · Updated 59 times
Summary
This study compares nerve function in people with PIEZO2 Deficiency Syndrome (a rare genetic condition that reduces touch and pain sensation) to healthy volunteers. Researchers use thin needles to record nerve activity while applying various sensations like brushing, heat, and pinching. The goal is to understand how the PIEZO2 gene mutation alters nerve signals.
What this could mean
Our plain-language read of the trial. This is informational only, not medical advice or a prediction.
- What this could lead to
- If successful, this study could reveal how PIEZO2 gene mutations affect nerve signaling, pointing toward future treatments for sensory disorders.
- What could go wrong
- This is a small, early-stage observational study (16 participants) focused on understanding, not treatment. Results may not lead directly to therapies.
This is an AI summary of the original study and may miss details. Read our disclaimer.
Study facts
What this study's own registry entry says, in plain language.
- Participants
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About 16 people
The number the study aims to enrol. It can still change while the study runs.
- Expected to start
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Sep 2026
An estimate. Start dates often move.
- Expected to finish
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Dec 2026
An estimate. End dates often move.
- Lead sponsor
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A government research agency
The lead sponsor is the US National Institutes of Health.
Who can take part
This study's own entry requirements. Only the study team can say for certain whether you qualify.
Who is studied
All participants will be screened and selected from an existing NCCIH protocol, 16-AT-0077. PDS participants will be referred to 16-AT-0077 for screening from an existing NINDS protocol, 12-N-0095.
- Ages
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18 to 100 years
- Sex
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Anyone
- Healthy volunteers
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Not accepted
This study is not open to healthy volunteers. The entry requirements below say who it is open to.
Show the full entry requirements Hide the full entry requirements
Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.
* 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.
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Get notified about this study
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As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
How to take part
Only the study team decides who joins. These are the ways to reach them.
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The places running it
1 site. The list below names each one and where it is.
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The official record
ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.
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A doctor treating you
A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.
Contacts and locations
Locations
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National Institutes of Health Clinical Center
Bethesda, Maryland, 20892, United States