Pediatric and Adult Registry for Patients With ARThrogryposis (PARART)

Grenoble Alpes University Hospital Center (CHU)

Status: Enrolling

Conditions: Arthrogryposis Multiplex Congenita (AMC)

Study type: Observational

Funder types: Other

Identifiers

NCT05673265

38RC21.055

Details and patient eligibility

About

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

Full 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.

Enrollment: 230 estimated patients

Sex: All

Ages: Under 90 years old

Volunteers: Accepts Healthy Volunteers

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)