Pediatric and Adult Registry for Patients With ARThrogryposis

• Conditions: Arthrogryposis Multiplex Congenita (AMC)

• Registration Number: NCT05673265
• Lead Sponsor: University Hospital, Grenoble

Brief Summary

The aim of the study is Epidemiological Evaluation of a single-centre national cohort of patients with 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 Timeline

• Study Start: 2021-11-01
• Status Verified: 2022-06
• Study First Submitted: 2022-09-20
• Study First Submitted QC: 2023-01-03
• Last Update Submitted: 2023-01-03
• Study First Posted: 2023-01-06
• Last Update Posted: 2023-01-06
• Primary Completion: 2023-07-01
• Study Completion: 2023-07-01

Recruitment & Eligibility

• Status: UNKNOWN
• Sex: All
• Target Recruitment: 230

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 & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Frequency of etiologies	2 years	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

Secondary Outcome Measures

Name	Time	Method
Data from complementary examinations ( medical imaging including muscular MRI)	2 years	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)
Results of phenotypic and functional assessment	2 years	Measurement of functional independence(FIM)
Data from complementary examinations (molecular analyses)	2 years	Data from complementary examinations (molecular analyses); patients admitted since 2008 to ensure the quality and completeness of the data collected on the historical cohort)
Data from complementary examinations(biochemical analyses)	2 years	Data from complementary examinations ( biochemical analyses); patients admitted since 2008 to ensure the quality and completeness of the data collected on the historical cohort)
Data from complementary examinations (pathology)	2 years	Data from complementary examinations (pathology); patients admitted since 2008 to ensure the quality and completeness of the data collected on the historical cohort)
Number and types of surgical procedures	2 years	Number and types of surgical procedures

Trial Locations

Locations (1)

CHU Grenoble Alpes; 🇫🇷 La Tronche, France