Clinical trial NCT05673265: Pediatric and Adult Registry for Patients With ARThrogryposis
Official title: Pediatric and Adult Registry for Patients With ARThrogryposis
Study type: OBSERVATIONAL
Overall status: UNKNOWN
Conditions: Arthrogryposis Multiplex Congenita (AMC)
Lead sponsor: University Hospital, Grenoble
Sponsor class: OTHER
First posted: 2023-01-06
Enrollment: 230
Sex: ALL
Maximum age (years): 90
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: COHORT
Time perspective: OTHER
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.

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.

Eligibility criteria: 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)

Primary outcomes:
measure: Frequency of etiologies
timeFrame: 2 years
Secondary outcomes:
measure: Data from complementary examinations (molecular analyses)
timeFrame: 2 years
measure: Data from complementary examinations ( medical imaging including muscular MRI)
timeFrame: 2 years
measure: Data from complementary examinations(biochemical analyses)
timeFrame: 2 years
measure: Data from complementary examinations (pathology)
timeFrame: 2 years
measure: Results of phenotypic and functional assessment
timeFrame: 2 years
measure: Results of phenotypic and functional assessment
timeFrame: 2 years
measure: Results of phenotypic and functional assessment
timeFrame: 2 years
measure: Results of phenotypic and functional assessment
timeFrame: 2 years
measure: Results of phenotypic and functional assessment
timeFrame: 2 years
measure: Number and types of surgical procedures
timeFrame: 2 years
Other outcomes:
Locations:
city: La Tronche
country: France
facility: CHU Grenoble Alpes
Study officials:
affiliation: Univ. Grenoble Alpes Inserm U1209 IAB CHU Grenoble Alpes
name: Klaus DIETERICH, MD, PhD
role: PRINCIPAL_INVESTIGATOR
References: