Mercuri Analysis Contribution on Handicap Evaluation in ArthrogypOsis, a Congenital Neuromuscular Disease

NCT05137756 | Completed

• 1 other identifier: 2021-MACHAON
• Study Type: observational
• Target: 53
• Locations: 1 country
• Sites: 1

Brief Summary

The aim is to evaluate the correlation of quantified fibro-adipous infiltration of muscles, using the MRI-based Mercuri score, with deficiencies, activity limitations and social participation in patients with arthrogryposis multiplex congenita.

Conditions

Diagnosis of Arthrogryposis Amyoplasia or Distal Arthrogryposis; 5 Day Multidisciplinary Evaluation in AMC Clinic of the National Reference Center; With Physical Medecin, Medical Genetic and Imaging Departments at the Hospital Grenoble Alpes

Keywords

Arthrogryposis Multiplex Congenita; MRI; mercuri score; fibro-adipous infiltration; fonctionnal capacity; rehabilitation; retrospective observationnal study

Outcome Measures

Primary Outcomes (1)

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

  The degree of muscle fat infiltration was assessed with at least 2 visible slices. We used the four-point scale proposed by Mercuri et al 2002. Each muscle was staged as follows: 1. Normal appearance, 2. Mild involvement. 3. Moderate involvement. 4. Severe involvement.

  during 5 day evaluation

Secondary Outcomes (10)

• muscle weakness

  during 5 day evaluation

• passive range of motion

  during 5 day evaluation

• 6 minutes walking test

  during 5 day evaluation

• reaching score

  during 5 day evaluation

• Functionnal independance measure

  during 5 day evaluation

Study Arms (2)

Amyoplasia

patient with diagnosis of Amyoplasia

Other: no intervention

Distal arthrogryposis

patient with diagnosis of Distal arthrogryposis

Other: no intervention

Interventions

no intervention OTHER

no intervention

Amyoplasia; Distal arthrogryposis

Eligibility Criteria

• Age: 17 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

adults with a diagnostic of Amyoplasia or distal arthrogryposis, evaluated by a all body MRI, and functionnal evaluation during day hospitalisation in adult neurorehabilitation department of grenoble, between 2010 and october 2020

You may qualify if:

• adults
• with a diagnostic of Amyoplasia or distal arthrogryposis
• evaluated by a all body MRI
• functionnal evaluation during day hospitalisation in neurorehabilitation department
• between 2010 and october 2020

You may not qualify if:

• other aetiology of Arthrogryposis multiplex congenita (AMC)
• incomplete MRI or medical files
• interaction with other disease

Sponsors & Collaborators

• University Hospital, Grenoble: lead

Study Sites (1)

Chu Grenoble Alpes

La Tronche, 38700, France

Location

Related Publications (5)

• Liu CY, Yao J, Kovacs WC, Shrader JA, Joe G, Ouwerkerk R, Mankodi AK, Gahl WA, Summers RM, Carrillo N. Skeletal Muscle Magnetic Resonance Biomarkers in GNE Myopathy. Neurology. 2021 Feb 2;96(5):e798-e808. doi: 10.1212/WNL.0000000000011231. Epub 2020 Nov 20.

  PMID: 33219145 BACKGROUND

• 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

• Dai S, Dieterich K, Jaeger M, Wuyam B, Jouk PS, Perennou D. Disability in adults with arthrogryposis is severe, partly invisible, and varies by genotype. Neurology. 2018 May 1;90(18):e1596-e1604. doi: 10.1212/WNL.0000000000005418. Epub 2018 Apr 6.

  PMID: 29626181 RESULT

MeSH Terms

Conditions

Arthrogryposis

Condition Hierarchy (Ancestors)

Joint Diseases; Musculoskeletal Diseases; Muscular Diseases; Musculoskeletal Abnormalities; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Dominic PERENNOU, MDPHD

  CHU Grenoble Alpes

  STUDY DIRECTOR

• 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: November 16, 2021
• First Posted: November 30, 2021
• Study Start: December 1, 2019
• Primary Completion: July 1, 2021
• Study Completion: October 1, 2021
• Last Updated: November 30, 2021

Record last verified: 2021-11

Data Sharing

• IPD Sharing: Will not share

Locations

FR (1)