Clinical trial NCT05393375: Arthrogryposis Multiplex Congenita in Pediatric Age: Correlation Between MUScular MRI and Functional Evaluation
Official title: Arthrogryposis Multiplex Congenita in Pediatric Age: Correlation Between MUScular MRI and Functional Evaluation
Study type: OBSERVATIONAL
Overall status: COMPLETED
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
Lead sponsor: University Hospital, Grenoble
Sponsor class: OTHER
First posted: 2022-05-26
Enrollment: 97
Sex: ALL
Minimum age (years): 0
Maximum age (years): 18
Standard ages: CHILD
ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: RETROSPECTIVE
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.

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.

Detailed description: Arthrogryposis multiplex congenita (AMC) is a group of rare diseases characterized by joint contractures at two or more distinct joint levels at birth. More than 400 causes are currently known. The prevalence is estimated at 1/3000 to 1/2000. Joint limitations are not progressive, but the functional consequences have a lifelong impact on patients.

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.

Eligibility criteria: Inclusion Criteria:

* 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

Exclusion Criteria:

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

Primary outcomes:
measure: Mercuri Scores of upper limbs, trunk, and lower limbs evaluated on muscle MRI T1
timeFrame: through study completion, an average of 1 year
Secondary outcomes:
measure: Muscular weakness
timeFrame: through study completion, an average of 1 year
measure: Passive range of motion (PROM)
timeFrame: through study completion, an average of 1 year
measure: Reaching score
timeFrame: through study completion, an average of 1 year
measure: Ambulatory status
timeFrame: through study completion, an average of 1 year
measure: School status
timeFrame: through study completion, an average of 1 year
measure: Activity limitation
timeFrame: through study completion, an average of 1 year
measure: Surgery History
timeFrame: through study completion, an average of 1 year
measure: Human and technical Help
timeFrame: through study completion, an average of 1 year
Other outcomes:
Locations:
city: La Tronche
country: France
facility: CHU Grenoble Alpes
Study officials:
affiliation: CHU Grenoble Alpes
name: Klaus DIETERICH, MD
role: STUDY_DIRECTOR
References:
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: 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.
citation: 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.