- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT05393375
Arthrogryposis Multiplex Congenita in Pediatric Age: Correlation Between MUScular MRI and Functional Evaluation (AMUSE)
Study Overview
Status
Intervention / Treatment
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.
Study Type
Enrollment (Actual)
Contacts and Locations
Study Locations
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-
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La Tronche, France, 38700
- Chu Grenoble Alpes
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Participation Criteria
Eligibility Criteria
Ages Eligible for Study
Accepts Healthy Volunteers
Genders Eligible for Study
Sampling Method
Study Population
Description
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
Study Plan
How is the study designed?
Design Details
- Observational Models: Cohort
- Time Perspectives: Retrospective
Cohorts and Interventions
Group / Cohort |
Intervention / Treatment |
---|---|
Group 1 Amyoplasia
Patients with diagnosis of Amyoplasia
|
No intervention
|
Group 2 Distal Arthrogryposis
Patients with diagnosis of Distal Arthrogryposis
|
No intervention
|
Group 3 Other
Patients with diagnosis of other form of AMC
|
No intervention
|
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Mercuri Scores of upper limbs, trunk, and lower limbs evaluated on muscle MRI T1
Time Frame: through study completion, an average of 1 year
|
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 Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Muscular weakness
Time Frame: through study completion, an average of 1 year
|
Muscular weakness assessed by function (flexion, extension etc.) and not by each muscle, using the Medical Research Council (MRC) scale (from 0 to 5). The quotation was as follows: 0, no contraction; 1, flicker or trace of contraction; 2, active movement possible only with gravity eliminated; 3, active movement against gravity in the whole range of motion; 4, active movement against gravity and resistance; 5, quasi-normal strength) Evaluated by physiotherapists, occupational therapists and physician during evaluation. |
through study completion, an average of 1 year
|
Passive range of motion (PROM)
Time Frame: through study completion, an average of 1 year
|
Evaluated by physiotherapists; the range of motion of each movement in degrees was normalized with respect to the normal maximal movement, expressed as percentages
|
through study completion, an average of 1 year
|
Reaching score
Time Frame: through study completion, an average of 1 year
|
Reaching capacity was assessed by ad hoc test. Patients were instructed to successively touch some body targets with upper limbs : mouth, head, forehead, neck, back, stomach, gluteal region, opposite shoulders, ipsilateral shoulders, knee, feet, "Beggar's pose", "position of the oath", and "Zenith Pose". Each gesture was marked "yes" if successful or "no" if not. Responses were transformed into a binary variable with "yes" being worth 1 and "no" being worth 0 to allow for statistical correlations afterwards. The total score was calculated on both sides averaged and ranged from 0 to 14 points |
through study completion, an average of 1 year
|
Ambulatory status
Time Frame: through study completion, an average of 1 year
|
Ambulatory statuses were gathered by the teams during the check-ups as well as the age of acquisition of walking if available and the use or not of technical aids
|
through study completion, an average of 1 year
|
School status
Time Frame: through study completion, an average of 1 year
|
Type of schooling (mainstream education, adapted schooling, presence of a carer)
|
through study completion, an average of 1 year
|
Activity limitation
Time Frame: through study completion, an average of 1 year
|
Gathered evaluating living habits and essential acts of daily life such as element of the Functional Independence Measure (FIM) : feeding, dressing, potty training, toileting, schooling, transfers, locomotion, and also existence of leisure, hobby, presence of human or technical helps.
|
through study completion, an average of 1 year
|
Surgery History
Time Frame: through study completion, an average of 1 year
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Surgical history for each patient
|
through study completion, an average of 1 year
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Human and technical Help
Time Frame: through study completion, an average of 1 year
|
use of a technical aid (manual or electric wheelchair ...), or humain for daily life activities
|
through study completion, an average of 1 year
|
Collaborators and Investigators
Sponsor
Publications and helpful links
General Publications
- 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.
- 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.
- 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.
Study record dates
Study Major Dates
Study Start (Actual)
Primary Completion (Actual)
Study Completion (Actual)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Actual)
Study Record Updates
Last Update Posted (Actual)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Keywords
Additional Relevant MeSH Terms
Other Study ID Numbers
- 2022-AMUSE
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
Studies a U.S. FDA-regulated device product
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