Denne siden ble automatisk oversatt og nøyaktigheten av oversettelsen er ikke garantert. Vennligst referer til engelsk versjon for en kildetekst.

Mikronevrografisk vurdering av perifere nerver hos friske frivillige og individer med sensorisk dysfunksjon forårsaket av arvelige mutasjoner i PIEZO2-genet

3. november 2026 oppdatert av: National Center for Complementary and Integrative Health (NCCIH)

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.

Studieoversikt

Status

Har ikke rekruttert ennå

Forhold

Detaljert beskrivelse

Study Description:

The study aims to characterize peripheral nerve function and physiology in healthy participants and participants with inherited mutations in the PIEZO2 gene (otherwise known as PIEZO2- Deficiency Syndrome [PDS]). PIEZO2 encodes a stretch-gated ion channel whose function has been shown to be essential for aspects of gentle touch sensation, vibration detection, mechanical allodynia and proprioception in humans. The physiological effects of PIEZO2 mutations on sensory neurons in humans are unknown. The study will improve our understanding of the molecular mechanisms for touch and mechanical pain sensation and determine if the peripheral neurons remain otherwise healthy in the absence of a functioning PIEZO2 channel.

Objectives:

Primary Objective:

To determine whether peripheral neurons have a blunted response to gentle mechanical stimulation (e.g., soft brushing) in PDS patients compared to healthy participants using direct electrical recording from peripheral nerves.

Secondary Objectives:

To examine the physiological properties of different types of mechanically sensitive sensory neurons in response to innocuous and noxious stimuli in PDS patients and healthy participants. We expect the loss of PIEZO2 to have greater impact on the responsiveness of certain types mechano-receptor subtypes over others.

Endpoints:

Primary Endpoint:

Our primary endpoint is evidence of reduced responsiveness (i.e., firing rate [Hz]) of peripheral neurons to gentle mechanical (brushing) stimulation in PDS patients compared to controls. We expect a reduction of at least 50% in firing rate (Hz).

Secondary Endpoints:

Our secondary endpoint is the emergence of a differential effect of the loss of PIEZO2 on mechanoreceptor subclasses. Mechanoreceptor subclasses will be identified using established criteria (e.g., stimulus sensitivity, receptive field size, spike morphology and axon conduction velocity). The effect of the loss of PIEZO2 on the responsiveness of single-unit subclasses will be quantified by firing rate measures on single-unit data. In addition, the percept evoked to intraneural electrical stimulation of single-unit subclasses will be noted.

Studietype

Observasjonsmessig

Registrering (Antatt)

16

Kontakter og plasseringer

Denne delen inneholder kontaktinformasjon for de som utfører studien, og informasjon om hvor denne studien blir utført.

Studiekontakt

Studer Kontakt Backup

Studiesteder

  • Forente stater
    • Maryland
      • Bethesda, Maryland, Forente stater, 20892
        • National Institutes of Health Clinical Center
        • Ta kontakt med:
          • NIH Clinical Center Office of Patient Recruitment (OPR)
          • Telefonnummer: TTY dial 711 800-411-1222
          • E-post: ccopr@nih.gov

Deltakelseskriterier

Forskere ser etter personer som passer til en bestemt beskrivelse, kalt kvalifikasjonskriterier. Noen eksempler på disse kriteriene er en persons generelle helsetilstand eller tidligere behandlinger.

Kvalifikasjonskriterier

Alder som er kvalifisert for studier

18 år til 100 år (Voksen, Eldre voksen)

Tar imot friske frivillige

Nei

Kjønn som er kvalifisert for studier

Alle

Prøvetakingsmetode

Ikke-sannsynlighetsprøve

Studiepopulasjon

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.

Beskrivelse

  • 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.

Studieplan

Denne delen gir detaljer om studieplanen, inkludert hvordan studien er utformet og hva studien måler.

Hvordan er studiet utformet?

Designdetaljer

  • Observasjonsmodeller: CASE_CONTROL
  • Tidsperspektiver: CROSS_SECTIONAL

Kohorter og intervensjoner

Gruppe / Kohort
Healthy controls

Healthy participants
PIEZO2 Deficiency Syndrome (PDS)

Participants with a diagnosis of PIEZO2 Deficiency Syndrome; an inherited mutation in the PIEZO2 gene

Hva måler studien?

Primære resultatmål

Resultatmål
Tiltaksbeskrivelse
Tidsramme
Firing rate (Hz) in response to fast and slow brushing.
Tidsramme: At each visit (max of 4 visits) during microneurography procedure.

PDS patients have major deficits in touch detection. Therefore, we predict the response (firing rate) to gentle brush stimuli to be reduced by at least 50% (compared to healthy controls), corresponding to decreased sensitivity to mechanical stimuli. The neural measure of firing rate (Hz) captures both the magnitude of the response and its temporal pattern and has been shown to reliably distinguish between normal and pathological responses and the effects of pharmacological manipulations.
At each visit (max of 4 visits) during microneurography procedure.

Sekundære resultatmål

Resultatmål
Tiltaksbeskrivelse
Tidsramme
Firing rate (Hz) in response to other sensory modalities, e.g., thermal, and other mechanical stimuli.
Tidsramme: At each visit (max of 4 visits) during microneurography procedure.

Our secondary endpoint is the emergence of a differential effect of the loss of PIEZO2 on mechanoreceptor subclasses. Mechanoreceptor subclasses will be identified using established criteria (e.g., stimulus sensitivity, receptive field size, spike morphology and axon conduction velocity). The effect of the loss of PIEZO2 on the responsiveness of single-unit subclasses will be quantified by firing rate measures on single-unit data. In addition, the percept evoked to intraneural electrical stimulation of single-unit subclasses will be noted.
At each visit (max of 4 visits) during microneurography procedure.

Samarbeidspartnere og etterforskere

Det er her du vil finne personer og organisasjoner som er involvert i denne studien.

Sponsor

National Center for Complementary and Integrative Health (NCCIH)

Etterforskere

  • Hovedetterforsker: Miroslav Backonja, M.D., National Center for Complementary and Integrative Health (NCCIH)

Publikasjoner og nyttige lenker

Den som er ansvarlig for å legge inn informasjon om studien leverer frivillig disse publikasjonene. Disse kan handle om alt relatert til studiet.

Generelle publikasjoner

Hjelpsomme linker

Studierekorddatoer

Disse datoene sporer fremdriften for innsending av studieposter og sammendragsresultater til ClinicalTrials.gov. Studieposter og rapporterte resultater gjennomgås av National Library of Medicine (NLM) for å sikre at de oppfyller spesifikke kvalitetskontrollstandarder før de legges ut på det offentlige nettstedet.

Studer hoveddatoer

Studiestart (Antatt)

9. november 2026

Primær fullføring (Antatt)

31. desember 2026

Studiet fullført (Antatt)

31. desember 2026

Datoer for studieregistrering

Først innsendt

22. september 2023

Først innsendt som oppfylte QC-kriteriene

22. september 2023

Først lagt ut (Faktiske)

25. september 2023

Oppdateringer av studieposter

Sist oppdatering lagt ut (Faktiske)

4. november 2026

Siste oppdatering sendt inn som oppfylte QC-kriteriene

3. november 2026

Sist bekreftet

16. september 2026

Mer informasjon

Begreper knyttet til denne studien

Nøkkelord

Andre studie-ID-numre

  • 10001678
  • 001678-AT

Plan for individuelle deltakerdata (IPD)

Planlegger du å dele individuelle deltakerdata (IPD)?

NEI

Legemiddel- og utstyrsinformasjon, studiedokumenter

Studerer et amerikansk FDA-regulert medikamentprodukt

Nei

Studerer et amerikansk FDA-regulert enhetsprodukt

Nei

Denne informasjonen ble hentet direkte fra nettstedet clinicaltrials.gov uten noen endringer. Hvis du har noen forespørsler om å endre, fjerne eller oppdatere studiedetaljene dine, vennligst kontakt register@clinicaltrials.gov. Så snart en endring er implementert på clinicaltrials.gov, vil denne også bli oppdatert automatisk på nettstedet vårt. .

Abonnere