PIEZO2-Deficiency SyndromeNCT06052631
Microneurographic Assessment of Peripheral Nerves in Healthy Volunteers and Individuals With Sensory Dysfunction Caused by Inherited Mutations in the PIEZO2 Gene
An observational study of PIEZO2-Deficiency Syndrome, run by National Center for Complementary and Integrative Health (NCCIH) at 1 site in United States.
Trial summary
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. Read more about this study
- Who is it for?
- Ages 18 to 100 years
- Conditions the study is for
- PIEZO2-Deficiency Syndrome
- How many people
- 16 participants
- Where
- 1 siteUnited States
- Study dates
- 11 Nov 2026to 31 Dec 2026
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 to 100 years
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: 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.
Who may be able to join
- 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".
Show all 10Show fewer
- PDS Patients
- -Clinical and genetic diagnosis of PIEZO2-LOF.
- Healthy participants
- -In good general health as evidenced by medical evaluation under 16-AT-0077.
Who cannot join
- 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.
Show all 13Show fewer
- 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.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
NIH Clinical Center Office of Patient Recruitment (OPR), 800-411-1222 ext. TTY dial 711, ccopr@nih.gov
About this study
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.
Read more
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.
Read the detailed description
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.
- Conditions
- PIEZO2-Deficiency Syndrome
- Keywords
- Sensation, TOUCH, Proprioception
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Healthy controls | Healthy participants | |
| PIEZO2 Deficiency Syndrome (PDS) | Participants with a diagnosis of PIEZO2 Deficiency Syndrome; an inherited mutation in the PIEZO2 gene |
What is being measured
The primary outcome is the main question the study is designed to answer.
Firing rate (Hz) in response to fast and slow brushing.
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.
Measured: At each visit (max of 4 visits) during microneurography procedure.
Secondary outcomes (1)
Firing rate (Hz) in response to other sensory modalities, e.g., thermal, and other mechanical stimuli.
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.
Measured: At each visit (max of 4 visits) during microneurography procedure.
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted25 Sep 2023
- Study start11 Nov 2026 (estimated)
- Primary completion31 Dec 2026 (estimated)
- Study completion31 Dec 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (34)Papers the sponsor has linked to this study.
- Other trials for PIEZO2-Deficiency SyndromeStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Cross-sectional
- Enrolment
- 16 participants (estimated)
Sponsor and investigators
- Lead sponsor
- National Center for Complementary and Integrative Health (NCCIH)
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- Miroslav Backonja, M.D., Principal investigator, National Center for Complementary and Integrative Health (NCCIH)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06052631
- Sponsor's protocol ID
- 10001678
- Other IDs
- 001678-AT
- Status last verified
- 16 Sep 2026
- First submitted
- 22 Sep 2023
- Last updated
- 6 Nov 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Publications
Chesler AT, Szczot M, Bharucha-Goebel D, Ceko M, Donkervoort S, Laubacher C, Hayes LH, Alter K, Zampieri C, Stanley C, Innes AM, Mah JK, Grosmann CM, Bradley N, Nguyen D, Foley AR, Le Pichon CE, Bonnemann CG. The Role of PIEZO2 in Human Mechanosensation. N Engl J Med. 2016 Oct 6;375(14):1355-1364. doi: 10.1056/NEJMoa1602812. Epub 2016 Sep 21.
PubMed 27653382Case LK, Liljencrantz J, Madian N, Necaise A, Tubbs J, McCall M, Bradson ML, Szczot M, Pitcher MH, Ghitani N, Frangos E, Cole J, Bharucha-Goebel D, Saade D, Ogata T, Donkervoort S, Foley AR, Bonnemann CG, Olausson H, Bushnell MC, Chesler AT. Innocuous pressure sensation requires A-type afferents but not functional RhoIotaEpsilonZetaOmicron2 channels in humans. Nat Commun. 2021 Jan 28;12(1):657. doi: 10.1038/s41467-021-20939-5.
PubMed 33510158Nagi SS, Marshall AG, Makdani A, Jarocka E, Liljencrantz J, Ridderstrom M, Shaikh S, O'Neill F, Saade D, Donkervoort S, Foley AR, Minde J, Trulsson M, Cole J, Bonnemann CG, Chesler AT, Bushnell MC, McGlone F, Olausson H. An ultrafast system for signaling mechanical pain in human skin. Sci Adv. 2019 Jul 3;5(7):eaaw1297. doi: 10.1126/sciadv.aaw1297. eCollection 2019 Jul.
PubMed 31281886Curry TB, Charkoudian N. The use of real-time ultrasound in microneurography. Auton Neurosci. 2011 Jul 5;162(1-2):89-93. doi: 10.1016/j.autneu.2011.03.007. Epub 2011 Apr 22.
PubMed 21514900Delle Vedove A, Storbeck M, Heller R, Holker I, Hebbar M, Shukla A, Magnusson O, Cirak S, Girisha KM, O'Driscoll M, Loeys B, Wirth B. Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis. Am J Hum Genet. 2016 Nov 3;99(5):1206-1216. doi: 10.1016/j.ajhg.2016.09.019. Epub 2016 Oct 27.
PubMed 27843126Dunham JP, Sales AC, Pickering AE. Ultrasound-guided, open-source microneurography: Approaches to improve recordings from peripheral nerves in man. Clin Neurophysiol. 2018 Nov;129(11):2475-2481. doi: 10.1016/j.clinph.2018.07.011. Epub 2018 Jul 29.
PubMed 30107982Eckberg DL, Wallin BG, Fagius J, Lundberg L, Torebjork HE. Prospective study of symptoms after human microneurography. Acta Physiol Scand. 1989 Dec;137(4):567-9. doi: 10.1111/j.1748-1716.1989.tb08804.x. No abstract available.
PubMed 2690582Edin BB, Abbs JH. Finger movement responses of cutaneous mechanoreceptors in the dorsal skin of the human hand. J Neurophysiol. 1991 Mar;65(3):657-70. doi: 10.1152/jn.1991.65.3.657.
PubMed 2051199Gandevia SC, Hales JP. The methodology and scope of human microneurography. J Neurosci Methods. 1997 Jun 27;74(2):123-36. doi: 10.1016/s0165-0270(97)02243-7.
PubMed 9219882Guo YR, MacKinnon R. Structure-based membrane dome mechanism for Piezo mechanosensitivity. Elife. 2017 Dec 12;6:e33660. doi: 10.7554/eLife.33660.
PubMed 29231809Hagbarth KE. Exteroceptive, proprioceptive, and sympathetic activity recorded with microelectrodes from human peripheral nerves. Mayo Clin Proc. 1979 Jun;54(6):353-65.
PubMed 156292Haliloglu G, Becker K, Temucin C, Talim B, Kucuksahin N, Pergande M, Motameny S, Nurnberg P, Aydingoz U, Topaloglu H, Cirak S. Recessive PIEZO2 stop mutation causes distal arthrogryposis with distal muscle weakness, scoliosis and proprioception defects. J Hum Genet. 2017 Apr;62(4):497-501. doi: 10.1038/jhg.2016.153. Epub 2016 Dec 15.
PubMed 27974811Hissen SL, Fu Q. Neural control of blood pressure during pregnancy in humans. Clin Auton Res. 2020 Oct;30(5):423-431. doi: 10.1007/s10286-020-00703-3. Epub 2020 Jun 20.
PubMed 32564162Le Pichon CE, Chesler AT. The functional and anatomical dissection of somatosensory subpopulations using mouse genetics. Front Neuroanat. 2014 Apr 22;8:21. doi: 10.3389/fnana.2014.00021. eCollection 2014.
PubMed 24795573Lewis AH, Grandl J. Inactivation Kinetics and Mechanical Gating of Piezo1 Ion Channels Depend on Subdomains within the Cap. Cell Rep. 2020 Jan 21;30(3):870-880.e2. doi: 10.1016/j.celrep.2019.12.040.
PubMed 31968259
Study at a glance
From the registry record, last updated by the sponsor on 6 Nov 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Microneurographic Assessment of Peripheral Nerves in Healthy Volunteers and Individuals With Sensory Dysfunction Caused by Inherited Mutations in the PIEZO2 Gene
- ClinicalTrials.gov ID
- NCT06052631
- Acronym / sponsor ID
- 10001678
- Conditions
- PIEZO2-Deficiency Syndrome
- Keywords
- Sensation, TOUCH, Proprioception
- Study type
- Observational
- Recruitment status
- Not yet recruiting
- Enrolment
- 16 participants (estimated)
- Lead sponsor
- National Center for Complementary and Integrative Health (NCCIH)US National Institutes of Health
- Study start
- 11 Nov 2026 (estimated)
- Primary completion
- 31 Dec 2026 (estimated)
- Study completion
- 31 Dec 2026 (estimated)
- First posted
- 25 Sep 2023 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
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.
Study design
- Observational model
- Case-control
- Time perspective
- Cross-sectional
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Healthy controls | – | –Healthy participants |
| PIEZO2 Deficiency Syndrome (PDS) | – | –Participants with a diagnosis of PIEZO2 Deficiency Syndrome; an inherited mutation in the PIEZO2 gene |
Who may qualify
- Ages
- 18 to 100 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- 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.
Key inclusion criteria (10 listed)
- 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.
Key exclusion criteria (13 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Firing rate (Hz) in response to fast and slow brushing.
Time frame: 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.
1 secondary outcome
Firing rate (Hz) in response to other sensory modalities, e.g., thermal, and other mechanical stimuli.
Time frame: At each visit (max of 4 visits) during microneurography procedure.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 6 Nov 2026.
- Background: PubMed 27653382Chesler AT, Szczot M, Bharucha-Goebel D, Ceko M, Donkervoort S, Laubacher C, Hayes LH, Alter K, Zampieri C, Stanley C, Innes AM, Mah JK, Grosmann CM, Bradley N, Nguyen D, Foley AR, Le Pichon CE, Bonnemann CG. The Role of PIEZO2 in Human Mechanosensation. N Engl J Med. 2016 Oct 6;375(14):1355-1364. doi: 10.1056/NEJMoa1602812. Epub 2016 Sep 21.
- Background: PubMed 33510158Case LK, Liljencrantz J, Madian N, Necaise A, Tubbs J, McCall M, Bradson ML, Szczot M, Pitcher MH, Ghitani N, Frangos E, Cole J, Bharucha-Goebel D, Saade D, Ogata T, Donkervoort S, Foley AR, Bonnemann CG, Olausson H, Bushnell MC, Chesler AT. Innocuous pressure sensation requires A-type afferents but not functional RhoIotaEpsilonZetaOmicron2 channels in humans. Nat Commun. 2021 Jan 28;12(1):657. doi: 10.1038/s41467-021-20939-5.
- Background: PubMed 31281886Nagi SS, Marshall AG, Makdani A, Jarocka E, Liljencrantz J, Ridderstrom M, Shaikh S, O'Neill F, Saade D, Donkervoort S, Foley AR, Minde J, Trulsson M, Cole J, Bonnemann CG, Chesler AT, Bushnell MC, McGlone F, Olausson H. An ultrafast system for signaling mechanical pain in human skin. Sci Adv. 2019 Jul 3;5(7):eaaw1297. doi: 10.1126/sciadv.aaw1297. eCollection 2019 Jul.
- Background: PubMed 21514900Curry TB, Charkoudian N. The use of real-time ultrasound in microneurography. Auton Neurosci. 2011 Jul 5;162(1-2):89-93. doi: 10.1016/j.autneu.2011.03.007. Epub 2011 Apr 22.
- Background: PubMed 27843126Delle Vedove A, Storbeck M, Heller R, Holker I, Hebbar M, Shukla A, Magnusson O, Cirak S, Girisha KM, O'Driscoll M, Loeys B, Wirth B. Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis. Am J Hum Genet. 2016 Nov 3;99(5):1206-1216. doi: 10.1016/j.ajhg.2016.09.019. Epub 2016 Oct 27.
- Background: PubMed 30107982Dunham JP, Sales AC, Pickering AE. Ultrasound-guided, open-source microneurography: Approaches to improve recordings from peripheral nerves in man. Clin Neurophysiol. 2018 Nov;129(11):2475-2481. doi: 10.1016/j.clinph.2018.07.011. Epub 2018 Jul 29.
- Background: PubMed 2690582Eckberg DL, Wallin BG, Fagius J, Lundberg L, Torebjork HE. Prospective study of symptoms after human microneurography. Acta Physiol Scand. 1989 Dec;137(4):567-9. doi: 10.1111/j.1748-1716.1989.tb08804.x. No abstract available.
- Background: PubMed 2051199Edin BB, Abbs JH. Finger movement responses of cutaneous mechanoreceptors in the dorsal skin of the human hand. J Neurophysiol. 1991 Mar;65(3):657-70. doi: 10.1152/jn.1991.65.3.657.
- Background: PubMed 9219882Gandevia SC, Hales JP. The methodology and scope of human microneurography. J Neurosci Methods. 1997 Jun 27;74(2):123-36. doi: 10.1016/s0165-0270(97)02243-7.
- Background: PubMed 29231809Guo YR, MacKinnon R. Structure-based membrane dome mechanism for Piezo mechanosensitivity. Elife. 2017 Dec 12;6:e33660. doi: 10.7554/eLife.33660.
- Background: PubMed 156292Hagbarth KE. Exteroceptive, proprioceptive, and sympathetic activity recorded with microelectrodes from human peripheral nerves. Mayo Clin Proc. 1979 Jun;54(6):353-65.
- Background: PubMed 27974811Haliloglu G, Becker K, Temucin C, Talim B, Kucuksahin N, Pergande M, Motameny S, Nurnberg P, Aydingoz U, Topaloglu H, Cirak S. Recessive PIEZO2 stop mutation causes distal arthrogryposis with distal muscle weakness, scoliosis and proprioception defects. J Hum Genet. 2017 Apr;62(4):497-501. doi: 10.1038/jhg.2016.153. Epub 2016 Dec 15.
- NIH Clinical Center Detailed Web PageLink provided by the sponsor.
- Individual participant dataSharing planned: No
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Miroslav Backonja, M.D. principal investigator
National Center for Complementary and Integrative Health (NCCIH)
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of PIEZO2-Deficiency Syndrome, run by National Center for Complementary and Integrative Health (NCCIH) at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 10 inclusion and 13 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: opening soon, as of the sponsor's last update on 6 Nov 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Hayley M Hansen ((301) 451-2026, hayley.hansen@nih.gov), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Firing rate (Hz) in response to fast and slow brushing. (time frame: At each visit (max of 4 visits) during microneurography procedure.). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT06052631, which also lists 34 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 6 Nov 2026.