Clinical trial · Observational
Arthrogryposis Multiplex Congenita in Pediatric Age: Correlation Between MUScular MRI and Functional Evaluation
NCT05393375CI-TRIAL-00062996AMUSEcompletedClinicalTrials.gov clinicaltrialsProvenance
- Source
- ClinicalTrials.gov
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CLINICALTRIALS-20260908-000001
Summary
Brief summary (as posted)
The aim of our study is to evaluate the correlation between quantified fibro-adipous infiltration of muscles on MRI assessed by MERCURI Score and the functional abilities (deficiencies, activity limitations and social participation of pediatric patients with arthrogryposis.
Conditions
Conditions (3)
Free-text conditions as registered, with the CancerIndex entity they were reconciled to and the match type.
| Condition (as posted) | Mapped entity | Match | Confidence |
|---|---|---|---|
| AMC-Arthrogryposis Multiplex Congenita | — | UNRESOLVED | — |
| Arthrogryposis Multiplex Congenita | — | UNRESOLVED | — |
| Pediatric ALL | Childhood Acute Lymphoblastic Leukemia | ALIAS | 0.90 |
Interventions
Interventions (1)
| Intervention | Type | Mapped drug | Match |
|---|---|---|---|
| No intervention | Other | — | UNRESOLVED |
Design
Arms and outcomes
Arms (3)
- label
- Group 1 Amyoplasia
- description
- Patients with diagnosis of Amyoplasia
- interventionNames
- Other: No intervention
- label
- Group 2 Distal Arthrogryposis
- description
- Patients with diagnosis of Distal Arthrogryposis
- interventionNames
- Other: No intervention
- label
- Group 3 Other
- description
- Patients with diagnosis of other form of AMC
- interventionNames
- Other: No intervention
Primary outcomes (1)
Eligibility
Eligibility (as posted)
- Sex
- All
- Minimum age
- 0 Years
- Maximum age
- 18 Years
Show eligibility criteria text
Inclusion Criteria: * age \< 18 at the first clinical evaluation or follow up exclusively in CHUGA pediatric rehabilitation unit * Clinical or molecular diagnosis of AMC established by geneticists at CHUGA * functional evaluation during consultation and follow-up in CHUGA pediatric rehabilitation unit * Muscle MRI of upper limbs, lower limbs and trunk performed at CHUGA pediatric radiology unit Exclusion Criteria: * Contra indication MRI. * MRI non exploitable. * Patient under guardianship or deprived of liberty
References
Publications (5)
- RESULTHall JG. Arthrogryposis multiplex congenita: etiology, genetics, classification, diagnostic approach, and general aspects. J Pediatr Orthop B. 1997 Jul;6(3):159-66. PMID 9260643
- RESULTMercuri E, Pichiecchio A, Counsell S, Allsop J, Cini C, Jungbluth H, Uggetti C, Bydder G. A short protocol for muscle MRI in children with muscular dystrophies. Eur J Paediatr Neurol. 2002;6(6):305-7. doi: 10.1016/s1090-3798(02)90617-3. PMID 12401454
- RESULTFigueroa-Bonaparte S, Segovia S, Llauger J, Belmonte I, Pedrosa I, Alejaldre A, Mayos M, Suarez-Cuartin G, Gallardo E, Illa I, Diaz-Manera J; Spanish Pompe Study Group. Muscle MRI Findings in Childhood/Adult Onset Pompe Disease Correlate with Muscle Function. PLoS One. 2016 Oct 6;11(10):e0163493. doi: 10.1371/journal.pone.0163493. eCollection 2016. PMID 27711114
- RESULTQuijano-Roy S, Avila-Smirnow D, Carlier RY; WB-MRI muscle study group. Whole body muscle MRI protocol: pattern recognition in early onset NM disorders. Neuromuscul Disord. 2012 Oct 1;22 Suppl 2:S68-84. doi: 10.1016/j.nmd.2012.08.003. PMID 22980770
- RESULTDieterich K, Le Tanno P, Kimber E, Jouk PS, Hall J, Giampietro P. The diagnostic workup in a patient with AMC: Overview of the clinical evaluation and paraclinical analyses with review of the literature. Am J Med Genet C Semin Med Genet. 2019 Sep;181(3):337-344. doi: 10.1002/ajmg.c.31730. Epub 2019 Aug 1. PMID 31368648