An observational study in Arthrogryposis Multiplex Congenita (AMC), sponsored by University Hospital, Grenoble. Status unknown at 1 site in France. Open to participants aged Up to 90 Years, including healthy volunteers. Per ClinicalTrials.gov, last updated 2023-01-06.
Sponsored by University Hospital, Grenoble · Observational
The aim of the study is Epidemiological Evaluation of a single-centre national cohort of patients with Arthrogryposis multiplex congenita (AMC)
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 :
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.
16 studies on the registry are indexed under Arthrogryposis; 5 are open to participants now.
Browse Arthrogryposis studies →University Hospital, Grenoble is the lead sponsor of 837 studies on the registry; 207 are open to participants now.
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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.
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Exclusion Criteria:
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
Time frame: 2 years
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)
Time frame: 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)
Time frame: 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)
Time frame: 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)
Time frame: 2 years
Results of phenotypic and functional assessment
Physical examination
Time frame: 2 years
Results of phenotypic and functional assessment
Antenatal data
Time frame: 2 years
Results of phenotypic and functional assessment
Medical Research Council(MRC) score for muscle strength
Time frame: 2 years
Results of phenotypic and functional assessment
Goniometry for joint involvement
Time frame: 2 years
Results of phenotypic and functional assessment
Measurement of functional independence(FIM)
Time frame: 2 years
Number and types of surgical procedures
Number and types of surgical procedures
Time frame: 2 years
Plan to share: No
No publications or documents are linked to this record.
Started Nov 2021 (actual). Primary completion is estimated for Jul 2023, 20 months after the start.
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This study is status unknown, as verified in Jun 2022. You cannot join it, but the record below documents what was studied.
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