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健康なボランティアおよびPIEZO2遺伝子の遺伝的変異によって引き起こされる感覚機能障害のある個人における末梢神経の微小神経学的評価

2026年11月4日 更新者：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.

調査の概要

状態

まだ募集していません

条件

詳細な説明

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.

研究の種類

観察的

入学 (推定)

16

連絡先と場所

このセクションには、調査を実施する担当者の連絡先の詳細と、この調査が実施されている場所に関する情報が記載されています。

研究連絡先

研究連絡先のバックアップ

研究場所

  • アメリカ
    • Maryland
      • Bethesda、Maryland、アメリカ、20892
        • National Institutes of Health Clinical Center
        • コンタクト：
          • NIH Clinical Center Office of Patient Recruitment (OPR)
          • 電話番号：TTY dial 711 800-411-1222
          • メール：ccopr@nih.gov

参加基準

研究者は、適格基準と呼ばれる特定の説明に適合する人を探します。これらの基準のいくつかの例は、人の一般的な健康状態または以前の治療です。

適格基準

就学可能な年齢

18年～100年 (大人、高齢者)

健康ボランティアの受け入れ

いいえ

受講資格のある性別

全て

サンプリング方法

非確率サンプル

調査対象母集団

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.

説明

  • 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.

研究計画

このセクションでは、研究がどのように設計され、研究が何を測定しているかなど、研究計画の詳細を提供します。

研究はどのように設計されていますか？

デザインの詳細

  • 観測モデル：CASE_CONTROL
  • 時間の展望：CROSS_SECTIONAL

コホートと介入

グループ/コホート
Healthy controls

Healthy participants
PIEZO2 Deficiency Syndrome (PDS)

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

この研究は何を測定していますか？

主要な結果の測定

結果測定
メジャーの説明
時間枠
Firing rate (Hz) in response to fast and slow brushing.
時間枠：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.

二次結果の測定

結果測定
メジャーの説明
時間枠
Firing rate (Hz) in response to other sensory modalities, e.g., thermal, and other mechanical stimuli.
時間枠：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.

協力者と研究者

ここでは、この調査に関係する人々や組織を見つけることができます。

スポンサー

National Center for Complementary and Integrative Health (NCCIH)

捜査官

  • 主任研究者：Miroslav Backonja, M.D.、National Center for Complementary and Integrative Health (NCCIH)

出版物と役立つリンク

研究に関する情報を入力する責任者は、自発的にこれらの出版物を提供します。これらは、研究に関連するあらゆるものに関するものである可能性があります。

一般刊行物

便利なリンク

研究記録日

これらの日付は、ClinicalTrials.gov への研究記録と要約結果の提出の進捗状況を追跡します。研究記録と報告された結果は、国立医学図書館 (NLM) によって審査され、公開 Web サイトに掲載される前に、特定の品質管理基準を満たしていることが確認されます。

主要日程の研究

研究開始 (推定)

2026年11月10日

一次修了 (推定)

2026年12月31日

研究の完了 (推定)

2026年12月31日

試験登録日

最初に提出

2023年9月22日

QC基準を満たした最初の提出物

2023年9月22日

最初の投稿 (実際)

2023年9月25日

学習記録の更新

投稿された最後の更新 (実際)

2026年11月5日

QC基準を満たした最後の更新が送信されました

2026年11月4日

最終確認日

2026年9月16日

詳しくは

本研究に関する用語

キーワード

その他の研究ID番号

  • 10001678
  • 001678-AT

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いいえ

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