Mercuri Analysis Contribution on Handicap Evaluation in ArthrogypOsis, a Congenital Neuromuscular Disease
NCT ID: NCT05137756
Last Updated: 2021-11-30
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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COMPLETED
53 participants
OBSERVATIONAL
2019-12-01
2021-10-01
Brief Summary
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Detailed Description
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Mercuri et al. (Mercuri et al, 2002) have developed a semi-quantitative score to mesure fibro-adipous muscle infiltration on muscle MRI.
Correlations between fibro-adipous infiltration and muscular deficits have already been studied in other neuromusclar diseases such as Pompe disease (Figueroa-Bonaparte et al, 2016) or Duchenne muscular dystrophy (Brogan et al, 2018). These studies revealed good correlation between disease onset, muscle strength and the degree of muscle fibro-adipous infiltration, calculated using the Mercuri score. The authors concluded that muscular MRI can be used to follow the neuromuscular disease progression as it is correlated with muscle function.
Contrary to these progressive diseases, AMC is a congenital non progressive condition. It is therefore tempting to hypothesize that the muscular fibro-adipous infiltration in these patients could be of prognostic value for future capacities.
Our aim is to evaluate the fibro-adipous muscle infiltration in a thoroughly phenotyped cohort of adult patients with Amyoplasia and Distal Arthrogryposes using the Mercuri score, based on muscular MRI, in order to evaluate the correlation with deficiencies, activity limitations and social participation.
Conditions
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Keywords
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Study Design
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COHORT
RETROSPECTIVE
Study Groups
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Amyoplasia
patient with diagnosis of Amyoplasia
no intervention
no intervention
Distal arthrogryposis
patient with diagnosis of Distal arthrogryposis
no intervention
no intervention
Interventions
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no intervention
no intervention
Eligibility Criteria
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Inclusion Criteria
* 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
Exclusion Criteria
* incomplete MRI or medical files
* interaction with other disease
17 Years
ALL
No
Sponsors
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University Hospital, Grenoble
OTHER
Responsible Party
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Principal Investigators
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Dominic PERENNOU, MDPHD
Role: STUDY_DIRECTOR
CHU Grenoble Alpes
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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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.
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.
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.
Other Identifiers
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2021-MACHAON
Identifier Type: -
Identifier Source: org_study_id