Arthrogryposis Multiplex Congenita in Pediatric Age: Correlation Between MUScular MRI and Functional Evaluation

NCT05393375 | Completed

• 1 other identifier: 2022-AMUSE
• Study Type: observational
• Target: 97
• Locations: 1 country
• Sites: 1

Brief Summary

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

Arthrogryposis Multiplex Congenita; AMC-Arthrogryposis Multiplex Congenita; Pediatric ALL

Keywords

Arthrogryposis Multiplex Congenita; Pediatric; Mercuri Score; MRI; Fibro-adipous infiltration; Functional capacity; Rehabilitation; Retrospective observational study

Outcome Measures

Primary Outcomes (1)

• Mercuri Scores of upper limbs, trunk, and lower limbs evaluated on muscle MRI T1

  The degree of fatty muscle infiltration was assessed on muscular MRI and quantified by Mercuri score, each muscle was staged as follows: 1\. Normal appearance, 2. Mild involvement (30-60% fatty infiltration). 3. Moderate involvement (\>60% fatty infiltration). 4. Severe involvement (complete infiltration). The degree of muscle fat infiltration was assessed with at least 2 visible slices, and performed by two independent operators. In case of divergent assessments, a consensus was reached after discussion.

  through study completion, an average of 1 year

Secondary Outcomes (8)

• Muscular weakness

  through study completion, an average of 1 year

• Passive range of motion (PROM)

  through study completion, an average of 1 year

• Reaching score

  through study completion, an average of 1 year

• Ambulatory status

  through study completion, an average of 1 year

• School status

  through study completion, an average of 1 year

Study Arms (3)

Group 1 Amyoplasia

Patients with diagnosis of Amyoplasia

Other: No intervention

Group 2 Distal Arthrogryposis

Patients with diagnosis of Distal Arthrogryposis

Other: No intervention

Group 3 Other

Patients with diagnosis of other form of AMC

Other: No intervention

Interventions

No intervention OTHER

No intervention

Group 1 Amyoplasia; Group 2 Distal Arthrogryposis; Group 3 Other

Eligibility Criteria

• Age: 0 Years - 18 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

Pediatric patient from PARART registry (Paediatric and Adult Registry on ARThrogryposis) evaluated in the reference center (RC) for Arthrogryposis Multiplex Congenita from 2010 until 2021). All patients were evaluated by a geneticist, and had a complete check up in the pediatric PMR unit (physical medicine and rehabilitation physician, physiotherapists, occupational and speech therapists) and had imaging analysis by whole body muscular MRI.

You may qualify if:

• 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

You may not qualify if:

• Contra indication MRI.
• MRI non exploitable.
• Patient under guardianship or deprived of liberty

Sponsors & Collaborators

• University Hospital, Grenoble: lead

Study Sites (1)

CHU Grenoble Alpes

La Tronche, 38700, France

Location

Related Publications (5)

• Hall JG. Arthrogryposis multiplex congenita: etiology, genetics, classification, diagnostic approach, and general aspects. J Pediatr Orthop B. 1997 Jul;6(3):159-66.

  PMID: 9260643 RESULT

• 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.

  PMID: 12401454 RESULT

• 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.

  PMID: 27711114 RESULT

• 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.

  PMID: 22980770 RESULT

• 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.

  PMID: 31368648 RESULT

MeSH Terms

Conditions

Arthrogryposis; Precursor Cell Lymphoblastic Leukemia-Lymphoma

Condition Hierarchy (Ancestors)

Joint Diseases; Musculoskeletal Diseases; Muscular Diseases; Musculoskeletal Abnormalities; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Leukemia, Lymphoid; Leukemia; Neoplasms by Histologic Type; Neoplasms; Hematologic Diseases; Hemic and Lymphatic Diseases; Lymphoproliferative Disorders; Lymphatic Diseases; Immunoproliferative Disorders; Immune System Diseases

Study Officials

• Klaus DIETERICH, MD

  CHU Grenoble Alpes

  STUDY DIRECTOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: May 17, 2022
• First Posted: May 26, 2022
• Study Start: May 1, 2022
• Primary Completion: June 1, 2022
• Study Completion: November 1, 2022
• Last Updated: January 4, 2023

Record last verified: 2022-05

Locations

FR (1)