Piezo2-related Arthrogryposis & physiopathOLOgy 3

NCT07360574 | Not Yet Recruiting

• 1 other identifier: 38RC25.0314
• Study Type: observational
• Target: 12
• Locations: 1 country
• Sites: 1

Brief Summary

Study type: Observational, non-interventional, single-center, descriptive study. Goal of the study: The goal of this observational study is to characterize the intensity, variability, and qualitative features of pain in patients with arthrogryposis multiplex congenita (AMC) caused by a gain-of-function mutation in PIEZO2. This population is rare and identified through the French national PARART registry (Pediatric and Adult Registry for patients with ARThrogryposis). Population: Participants are ≥10 years old, have a genetically confirmed gain-of-function PIEZO2 variant, and are registered in PARART. All procedures are conducted remotely; no onsite visit is required. Main questions the study aims to answer:

• What is the intensity and day-to-day variability of pain over 14 consecutive days, measured with a Numerical Rating Scale (0-100)?
• What are the sensory qualities and anatomical distribution of pain in this population?
• How does this pain affect quality of life?
• What treatments (pharmacological or non-pharmacological) have been used, and how effective are they? Study design: There is no comparison group. The study is descriptive and aims to characterize the pain phenotype linked to PIEZO2 gain-of-function mutations. What participants will do: Participants will complete the following tasks remotely: At Day 1: Questionnaires:
• Saint-Antoine Pain Questionnaire (QDSA)
• SF-12
• EQ-5D-5L
• Pain monitoring: treatments used For 14 consecutive days (Day 1 to Day 14), on a paper logbook:
• Daily self-reported Numerical Rating Scale (NRS, 0-100) for pain
• Daily body chart to document pain distribution All data are collected through REDCap and a paper logbook. No clinical exam, biological sampling, or hospital visit is required. The study duration for each participant is 14 days.

Conditions

Arthrogryposis Multiplex Congenita; Piezo2 Mutation Gain of Function

Keywords

Arthrogyposis; Piezo2

Outcome Measures

Primary Outcomes (1)

• Numeric Rating Scale

  Quantitative Pain Evaluation : scale from 0 (no pain) to 100 (worst pain ever).

  From the start to the end of the follow-up at 14 days

Secondary Outcomes (5)

• Body Pain Map

  From the start to the end of the follow-up at 14 days

• EuroQol 5-Dimensions 5-Levels

  At the start of the follow-up (Day 1).

• 12-Item Short Form Health Survey

  At the start of the follow-up (Day 1).

• Saint-Antoine Pain Questionnaire

  At the start of the follow-up (Day 1).

• Pain Monitoring / Treatments

  At the start of the follow-up (Day 1).

Eligibility Criteria

• Age: 10 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients affected by Arthrogryposis Multiplex Congenita with mutation gain of function of Piezo2 gene, followed by the University Hospital of Grenoble.

You may qualify if:

• PIEZO2 mutation gain of function
• Age ≥ 10 years
• Registered member of the PARART database (Pediatric and Adult Registry for Patients With ARThrogryposis)

You may not qualify if:

• \- Age \< 10 years

Sponsors & Collaborators

• University Hospital, Grenoble: lead

Study Sites (1)

CHU Grenoble Alpes

La Tronche, France, 38700, France

Location

Related Publications (8)

• Coste B, Houge G, Murray MF, Stitziel N, Bandell M, Giovanni MA, Philippakis A, Hoischen A, Riemer G, Steen U, Steen VM, Mathur J, Cox J, Lebo M, Rehm H, Weiss ST, Wood JN, Maas RL, Sunyaev SR, Patapoutian A. Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis. Proc Natl Acad Sci U S A. 2013 Mar 19;110(12):4667-72. doi: 10.1073/pnas.1221400110. Epub 2013 Mar 4.

  PMID: 23487782 BACKGROUND

• Felsenthal N, Zelzer E. Mechanical regulation of musculoskeletal system development. Development. 2017 Dec 1;144(23):4271-4283. doi: 10.1242/dev.151266.

  PMID: 29183940 BACKGROUND

• Nowlan NC. Biomechanics of foetal movement. Eur Cell Mater. 2015 Jan 2;29:1-21; discussion 21. doi: 10.22203/ecm.v029a01.

  PMID: 25552425 BACKGROUND

• Pollard AS, McGonnell IM, Pitsillides AA. Mechanoadaptation of developing limbs: shaking a leg. J Anat. 2014 Jun;224(6):615-23. doi: 10.1111/joa.12171. Epub 2014 Mar 18.

  PMID: 24635640 BACKGROUND

• Hoff JM, Loane M, Gilhus NE, Rasmussen S, Daltveit AK. Arthrogryposis multiplexa congenita: an epidemiologic study of nearly 9 million births in 24 EUROCAT registers. Eur J Obstet Gynecol Reprod Biol. 2011 Dec;159(2):347-50. doi: 10.1016/j.ejogrb.2011.09.027. Epub 2011 Oct 17.

  PMID: 22005589 BACKGROUND

• Lowry RB, Sibbald B, Bedard T, Hall JG. Prevalence of multiple congenital contractures including arthrogryposis multiplex congenita in Alberta, Canada, and a strategy for classification and coding. Birth Defects Res A Clin Mol Teratol. 2010 Dec;88(12):1057-61. doi: 10.1002/bdra.20738. Epub 2010 Nov 15.

  PMID: 21157886 BACKGROUND

• Darin N, Kimber E, Kroksmark AK, Tulinius M. Multiple congenital contractures: birth prevalence, etiology, and outcome. J Pediatr. 2002 Jan;140(1):61-7. doi: 10.1067/mpd.2002.121148.

  PMID: 11815765 BACKGROUND

• Dahan-Oliel N, Cachecho S, Barnes D, Bedard T, Davison AM, Dieterich K, Donohoe M, Fafara A, Hamdy R, Hjartarson HT, S Hoffman N, Kimber E, Komolkin I, Lester R, Ponten E, van Bosse HJP, Hall JG. International multidisciplinary collaboration toward an annotated definition of arthrogryposis multiplex congenita. Am J Med Genet C Semin Med Genet. 2019 Sep;181(3):288-299. doi: 10.1002/ajmg.c.31721. Epub 2019 Jul 7.

  PMID: 31282072 BACKGROUND

MeSH Terms

Conditions

Arthrogryposis

Condition Hierarchy (Ancestors)

Joint Diseases; Musculoskeletal Diseases; Muscular Diseases; Musculoskeletal Abnormalities; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Target Duration: 14 Days
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: December 15, 2025
• First Posted: January 22, 2026
• Study Start: February 1, 2026
• Primary Completion: July 1, 2026
• Study Completion: July 1, 2026
• Last Updated: January 22, 2026

Record last verified: 2026-01

Data Sharing

• IPD Sharing: Will not share

Locations

FR (1)