Clinical trial NCT05137756: Mercuri Analysis Contribution on Handicap Evaluation in ArthrogypOsis, a Congenital Neuromuscular Disease
Official title: Mercuri Analysis Contribution on Handicap Evaluation in ArthrogypOsis, a Congenital Neuromuscular Disease
Study type: OBSERVATIONAL
Overall status: COMPLETED
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
Lead sponsor: University Hospital, Grenoble
Sponsor class: OTHER
First posted: 2021-11-30
Enrollment: 53
Sex: ALL
Minimum age (years): 17
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: RETROSPECTIVE
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

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.

Detailed description: Arthrogryposis multiplex congenita (AMC) refers to a rare disease spectrum characterized by the presence of joint contractures at birth in at least two different body areas. Causes are multiple. Amyoplasia and distal arthrogryposes are the most frequent causes. Phenotypes consist of muscle weakness and atrophy of variant severity and joint deformities. The impact on mobility, activities or daily living and participation is variable (Dai et al, 2018).

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.

Eligibility criteria: Inclusion Criteria:

* 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

Exclusion Criteria:

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

Primary outcomes:
measure: Mercuri Scores of upper limbs, lower limbs,and trunk evaluated on MRI T1
timeFrame: during 5 day evaluation
Secondary outcomes:
measure: muscle weakness
timeFrame: during 5 day evaluation
measure: passive range of motion
timeFrame: during 5 day evaluation
measure: 6 minutes walking test
timeFrame: during 5 day evaluation
measure: reaching score
timeFrame: during 5 day evaluation
measure: Functionnal independance measure
timeFrame: during 5 day evaluation
measure: pain evaluation
timeFrame: during 5 day evaluation
measure: activities in daily life
timeFrame: during 5 day evaluation
measure: humain and technical aid
timeFrame: during 5 day evaluation
measure: respiratory and speech difficulties
timeFrame: during 5 day evaluation
measure: surgical history
timeFrame: during 5 day evaluation
Other outcomes:
Locations:
city: La Tronche
country: France
facility: Chu Grenoble Alpes
Study officials:
affiliation: CHU Grenoble Alpes
name: Dominic PERENNOU, MDPHD
role: STUDY_DIRECTOR
affiliation: CHU Grenoble Alpes
name: Klaus DIETERICH, MD
role: STUDY_DIRECTOR
References:
citation: 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.
citation: Hall JG. Arthrogryposis multiplex congenita: etiology, genetics, classification, diagnostic approach, and general aspects. J Pediatr Orthop B. 1997 Jul;6(3):159-66.
citation: 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.
citation: 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.
citation: 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.