Pediatric and Adult Registry for Patients With ARThrogryposis (PARART)

The aim of the study is Epidemiological Evaluation of a single-centre national cohort of patients with Arthrogryposis multiplex congenita (AMC)

Study Overview

• Status: Recruiting
• Conditions: Arthrogryposis Multiplex Congenita (AMC)

Detailed Description

Arthrogryposis multiplex congenita (AMC) is a group of rare diseases characterized by joint limitation at least two distinct articular levels at birth which represents about 100 to 200 births with AMC in France per year.

The Reference Center (CR) at Grenoble Alpes University Hospital set up multidisciplinary consultations for pediatric and adult patients with AMC such as (MPR, orthopedics, genetics for children and adults, and pulmonologist, rheumatologist for adults , also including individual or group therapeutic education sessions) .

For develop the diagnostic and follow-up approach, the Reference center initiated the drafting of a diagnostic and care protocol (PNDS), on the one hand based on the data of the literature and on the other hand on expert opinions.

The project is based on four elements :

1. This project is pediatric and adult registry. It should be possible to obtain more comprehensive prognostic data, particularly in relation to complications and possible comorbidities related to older ages.
2. The Recruitment of the patient is done immediately in France who's followed at the reference center in Grenoble Alpes University Hospital.

3-There are several ways for patient addressing. Indeed these are also addressed by the professionals or patients contact the center directly

4-The Patient's assessments are multidisciplinary from the outset, this should lead to get comprehensive functional and diagnostic data.

• Study Type: Observational
• Enrollment (Anticipated): 230

Contacts and Locations

• Study Contact: Name: Sarah UNEISI, PharmD; Phone Number: 0476768709; Email: SUneisi@chu-grenoble.fr
• Study Contact Backup: Name: Marjolaine GAUTHIER; Phone Number: 0476767285; Email: mgauthier4@chu-grenoble.fr

Study Locations

• France
  • La Tronche, France, 38700
    • Recruiting
    • Chu Grenoble Alpes
    • Contact: Klaus DIETERICH, MD, PhD; Phone Number: 0476767285; Email: kdieterich@chu-grenoble.fr

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: No older than 90 years (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

Pediatric and adult individuals are addressed to the reference centre of the University Hospital Grenoble Alpes for arthrogryposis multiplex congenita (AMC). The assessment is based on multidisciplinary consultations (physical medicine and rehabilitation, orthopedics, genetics for children and adults, and pulmonologist, rheumatologist for adults). The aim of the study is to obtain more comprehensive prognostic data, particularly in relation to complications and possible comorbidities related to older ages.

Description

Inclusion Criteria:

1. Patients diagnosed with arthrogryposis multiplex congenita prenatally or postnatally seen at least once at the reference center from January 2008 to July 2023.
2. pediatric and adult individuals.
3. Addressed to the reference centre of the University Hospital Grenoble Alpes.
4. living in France.

Exclusion Criteria:

1. Individuals who did not consent to use their data (or the data of their children).
2. Individuals with less than two affected joint levels.
3. Individuals under guardianship or deprived of liberty.
4. Inability to collect comprehensive medical information (individuals recently arrived in France)

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Other

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Frequency of etiologies	The etiologies will be drawn up either by the confirmation of a genetic cause by a high-throughput sequencing analysis (NGS), a chromosomal analysis on a DNA chip (ACPA) and / or a leukocyte karyotype, or on anamnestic, clinical and paraclinical data for entities currently without genetic cause retained	2 years

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Data from complementary examinations (molecular analyses)	Data from complementary examinations (molecular analyses); patients admitted since 2008 to ensure the quality and completeness of the data collected on the historical cohort)	2 years
Data from complementary examinations ( medical imaging including muscular MRI)	Data from complementary examinations ( medical imaging including muscular MRI); patients admitted since 2008 to ensure the quality and completeness of the data collected on the historical cohort)	2 years
Data from complementary examinations(biochemical analyses)	Data from complementary examinations ( biochemical analyses); patients admitted since 2008 to ensure the quality and completeness of the data collected on the historical cohort)	2 years
Data from complementary examinations (pathology)	Data from complementary examinations (pathology); patients admitted since 2008 to ensure the quality and completeness of the data collected on the historical cohort)	2 years
Results of phenotypic and functional assessment	Physical examination	2 years
Results of phenotypic and functional assessment	Antenatal data	2 years
Results of phenotypic and functional assessment	Medical Research Council(MRC) score for muscle strength	2 years
Results of phenotypic and functional assessment	Goniometry for joint involvement	2 years
Results of phenotypic and functional assessment	Measurement of functional independence(FIM)	2 years
Number and types of surgical procedures	Number and types of surgical procedures	2 years

Collaborators and Investigators

• Sponsor: University Hospital, Grenoble
• Investigators: Principal Investigator: Klaus DIETERICH, MD, PhD, Univ. Grenoble Alpes Inserm U1209 IAB CHU Grenoble Alpes

Study record dates

Study Major Dates

• Study Start (Actual): November 1, 2021
• Primary Completion (Anticipated): July 1, 2023
• Study Completion (Anticipated): July 1, 2023

Study Registration Dates

• First Submitted: September 20, 2022
• First Submitted That Met QC Criteria: January 3, 2023
• First Posted (Estimate): January 6, 2023

Study Record Updates

• Last Update Posted (Estimate): January 6, 2023
• Last Update Submitted That Met QC Criteria: January 3, 2023
• Last Verified: June 1, 2022

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Congenital Abnormalities; Joint Diseases; Musculoskeletal Diseases; Muscular Diseases; Musculoskeletal Abnormalities; Arthrogryposis
• Other Study ID Numbers: 38RC21.055

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: No

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No