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Tiny needles probe rare gene disorder that blocks touch

NCT ID NCT06052631

What the study statuses mean

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Recruitment status, easiest to join first

Recruiting now
This trial is taking on new participants right now.
Not yet recruiting This study
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

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

About 16 people

The number the study aims to enrol. It can still change while the study runs.

Expected to start

Sep 2026

An estimate. Start dates often move.

Expected to finish

Dec 2026

An estimate. End dates often move.

Lead sponsor

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

18 to 100 years

Sex

Anyone

Healthy volunteers

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

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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As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

How to take part

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  1. The places running it

    1 site. The list below names each one and where it is.

  2. The official record

    ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.

    Open the record ↗

  3. A doctor treating you

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Contacts and locations

Locations

  • National Institutes of Health Clinical Center

    Bethesda, Maryland, 20892, United States