Arthrogryposis Multiplex CongenitaAMUSENCT05393375
Arthrogryposis Multiplex Congenita in Pediatric Age: Correlation Between MUScular MRI and Functional Evaluation
An observational study of Arthrogryposis Multiplex Congenita and AMC-Arthrogryposis Multiplex Congenita, run by University Hospital, Grenoble at 1 site in France.
Trial 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. Read more about this study
- Who is it for?
- Ages 0 to 18 years
- Conditions the study is for
- Arthrogryposis Multiplex Congenita, AMC-Arthrogryposis Multiplex Congenita, Pediatric ALL
- How many people
- 97 participants
- Where
- 1 siteFrance
- Study dates
- 1 May 2022to 1 Nov 2022
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 0 to 18 years
- All sexes
- No healthy volunteers
- Child, Adult
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.
Who may be able to join
- 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
Who cannot join
- Contra indication MRI.
- MRI non exploitable.
- Patient under guardianship or deprived of liberty
Trial locations and contacts
1 site in 1 country.
About this study
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.
Read the 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.
- Being tested
- No intervention
- Keywords
- Arthrogryposis Multiplex Congenita, Pediatric, Mercuri Score, MRI, Fibro-adipous infiltration, Functional capacity, Rehabilitation, Retrospective observational study
- Medical subject headings
- Arthrogryposis, Precursor Cell Lymphoblastic Leukemia-Lymphoma
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
No interventionOther
No intervention
| Study group | Role | What they receive |
|---|---|---|
| Group 1 Amyoplasia | Patients with diagnosis of Amyoplasia Receives: Other: No intervention | |
| Group 2 Distal Arthrogryposis | Patients with diagnosis of Distal Arthrogryposis Receives: Other: No intervention | |
| Group 3 Other | Patients with diagnosis of other form of AMC Receives: Other: No intervention |
What is being measured
The primary outcome is the main question the study is designed to answer.
Mercuri Scores of upper limbs, trunk, and lower limbs evaluated on muscle MRI T1
The degree of fatty muscle infiltration was assessed on muscular MRI and quantified by Mercuri score, each muscle was staged as follows:
- 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.
Measured: through study completion, an average of 1 year
Secondary outcomes (8)
Muscular weakness
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.
Measured: through study completion, an average of 1 year
Passive range of motion (PROM)
Evaluated by physiotherapists; the range of motion of each movement in degrees was normalized with respect to the normal maximal movement, expressed as percentages
Measured: through study completion, an average of 1 year
Reaching score
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
Measured: through study completion, an average of 1 year
Ambulatory status
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
Measured: through study completion, an average of 1 year
School status
Type of schooling (mainstream education, adapted schooling, presence of a carer)
Measured: through study completion, an average of 1 year
Activity limitation
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.
Measured: through study completion, an average of 1 year
Surgery History
Surgical history for each patient
Measured: through study completion, an average of 1 year
Human and technical Help
use of a technical aid (manual or electric wheelchair ...), or humain for daily life activities
Measured: through study completion, an average of 1 year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted26 May 2022
- Study start1 May 2022
- Primary completion1 Jun 2022
- Study completion1 Nov 2022
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (5)Papers the sponsor has linked to this study.
- Other trials for Arthrogryposis Multiplex CongenitaStudies of the same condition, open and under way.
- More trials run by University Hospital, GrenobleThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Retrospective
- Enrolment
- 97 participants (actual)
Sponsor and investigators
- Lead sponsor
- University Hospital, Grenoble
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Klaus DIETERICH, MD, Study director, CHU Grenoble Alpes
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05393375
- Sponsor's protocol ID
- 2022-AMUSE
- Acronym
- AMUSE
- Status last verified
- May 2022
- First submitted
- 17 May 2022
- Last updated
- 4 Jan 2023
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Publications
Hall JG. Arthrogryposis multiplex congenita: etiology, genetics, classification, diagnostic approach, and general aspects. J Pediatr Orthop B. 1997 Jul;6(3):159-66.
PubMed 9260643Mercuri 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.
PubMed 12401454Figueroa-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.
PubMed 27711114Quijano-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.
PubMed 22980770Dieterich 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.
PubMed 31368648
Study at a glance
From the registry record, last updated by the sponsor on 4 Jan 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Arthrogryposis Multiplex Congenita in Pediatric Age: Correlation Between MUScular MRI and Functional Evaluation
- ClinicalTrials.gov ID
- NCT05393375
- Acronym / sponsor ID
- AMUSE / 2022-AMUSE
- Keywords
- Arthrogryposis Multiplex Congenita, Pediatric, Mercuri Score, MRI, Fibro-adipous infiltration, Functional capacity, Rehabilitation, Retrospective observational study
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 97 participants (actual)
- Lead sponsor
- University Hospital, GrenobleUniversity, hospital or other
- Study start
- 1 May 2022 (actual)
- Primary completion
- 1 Jun 2022 (actual)
- Study completion
- 1 Nov 2022 (actual)
- First posted
- 26 May 2022 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Retrospective
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| Group 1 Amyoplasia | – | Other: No interventionPatients with diagnosis of Amyoplasia |
| Group 2 Distal Arthrogryposis | – | Other: No interventionPatients with diagnosis of Distal Arthrogryposis |
| Group 3 Other | – | Other: No interventionPatients with diagnosis of other form of AMC |
Who may qualify
- Ages
- 0 to 18 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- 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.
Key inclusion criteria (4 listed)
- 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
Key exclusion criteria (3 listed)
- Contra indication MRI.
- MRI non exploitable.
- Patient under guardianship or deprived of liberty
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| No interventionNo intervention | Other | Group 1 Amyoplasia, Group 2 Distal Arthrogryposis, Group 3 Other |
Primary outcome
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.
8 secondary outcomes
Muscular weakness
Time frame: through study completion, an average of 1 year
Passive range of motion (PROM)
Time frame: through study completion, an average of 1 year
Reaching score
Time frame: through study completion, an average of 1 year
Ambulatory status
Time frame: through study completion, an average of 1 year
School status
Time frame: through study completion, an average of 1 year
Activity limitation
Time frame: through study completion, an average of 1 year
Surgery History
Time frame: through study completion, an average of 1 year
Human and technical Help
Time frame: through study completion, an average of 1 year
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 4 Jan 2023.
- Results publication: PubMed 9260643Hall JG. Arthrogryposis multiplex congenita: etiology, genetics, classification, diagnostic approach, and general aspects. J Pediatr Orthop B. 1997 Jul;6(3):159-66.
- Results publication: PubMed 12401454Mercuri 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.
- Results publication: PubMed 27711114Figueroa-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.
- Results publication: PubMed 22980770Quijano-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.
- Results publication: PubMed 31368648Dieterich 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.
Related trials for Arthrogryposis Multiplex Congenita
Recruiting
Technical Feasibility Study of Ultrasound Muscle Imaging in Antenatal Ultrasound
Arthrogryposis Multiplex Congenita (AMC)
Enrolling by invitation
Palliative Care Needs of Children With Rare Diseases and Their Families
Trisomy 13 Syndrome, Arthrogryposis Congenita Multiplex With Intestinal Atresia
Not yet recruitingObservational study
Piezo2-related Arthrogryposis & physiopathOLOgy 3
Arthrogryposis Multiplex Congenita, Piezo2 Mutation Gain of Function
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Klaus DIETERICH, MD study director
CHU Grenoble Alpes
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Arthrogryposis Multiplex Congenita and AMC-Arthrogryposis Multiplex Congenita, run by University Hospital, Grenoble at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 4 Jan 2023. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Mercuri Scores of upper limbs, trunk, and lower limbs evaluated on muscle MRI T1 (time frame: through study completion, an average of 1 year). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT05393375, which also lists 5 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 4 Jan 2023.