Arthrogryposis Multiplex Congenita in Pediatric Age: Correlation Between MUScular MRI and Functional Evaluation
NCT ID: NCT05393375
Last Updated: 2023-01-04
Study Results
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Basic Information
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COMPLETED
97 participants
OBSERVATIONAL
2022-05-01
2022-11-01
Brief Summary
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Detailed Description
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Correlations between fibro-adipous infiltration and muscular deficits have already been studied in other neuromuscular diseases such as Pompe disease or Duchenne muscular dystrophy. These studies concluded on a good correlation between disease progression and severity, muscle strength, and fatty infiltration assessed by Mercuri score. The investigators concluded that muscular MRI can be used as a non-invasive biomarker and a tool to follow the progression of neuromuscular disease and help evaluate the potential effects of therapies.
The aim of this project is to define whether MRI could also be used as a tool, through the assessment of muscle fatty infiltration, to help predict the functional abilities of our patients with AMC, and more specifically the two most frequent types, Amyoplasia and distal arthrogryposis.
The investigators will analyze fatty infiltration measured by muscle MRI and quantify it using the MERCURI score which was developed by Mercuri et al. (Mercuri et al. 2002) as a semi-quantitative score to quantify fibro-adipose muscle infiltration on muscle MRI.
The investigators will evaluate musculoskeletal deficiencies and limitations of activity from data obtained from patients followed in our AMC reference center at the University Hospital Grenoble Alpes (CHUGA).
The investigators will include data from 220 children, 97 of whom have had a complete check-up including a muscle MRI. The investigators will study the existence of a correlation between this score and the deficiencies and limitations of activity.
The investigators will then evaluate the potential predictive role of fatty infiltration measured on MRI in the functional abilities of the patients.
This characterization will help to better determine and anticipate the functional capacities of our patients from the beginning of their treatment to improve their functional prognosis.
This initial work could enhance the reflection on the biomechanical modeling of joints and key functions such as standing and the acquisition of walking, in order to pave the way for rehabilitation and compensation methods that are better adapted to patient's needs.
Conditions
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Study Design
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COHORT
RETROSPECTIVE
Study Groups
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Group 1 Amyoplasia
Patients with diagnosis of Amyoplasia
No intervention
No intervention
Group 2 Distal Arthrogryposis
Patients with diagnosis of Distal Arthrogryposis
No intervention
No intervention
Group 3 Other
Patients with diagnosis of other form of AMC
No intervention
No intervention
Interventions
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No intervention
No intervention
Eligibility Criteria
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Inclusion Criteria
* 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
* MRI non exploitable.
* Patient under guardianship or deprived of liberty
0 Years
18 Years
ALL
No
Sponsors
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University Hospital, Grenoble
OTHER
Responsible Party
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Principal Investigators
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Klaus DIETERICH, MD
Role: STUDY_DIRECTOR
CHU Grenoble Alpes
Locations
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CHU Grenoble Alpes
La Tronche, , France
Countries
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References
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Hall JG. Arthrogryposis multiplex congenita: etiology, genetics, classification, diagnostic approach, and general aspects. J Pediatr Orthop B. 1997 Jul;6(3):159-66.
Mercuri 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.
Figueroa-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.
Quijano-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.
Dieterich 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.
Other Identifiers
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2022-AMUSE
Identifier Type: -
Identifier Source: org_study_id
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