Diagnosis of Arthrogryposis Amyoplasia or Distal ArthrogryposisMACHAONNCT05137756
Mercuri Analysis Contribution on Handicap Evaluation in ArthrogypOsis, a Congenital Neuromuscular Disease
An observational study of Diagnosis of Arthrogryposis Amyoplasia or Distal Arthrogryposis and 5 Day Multidisciplinary Evaluation in AMC Clinic of the National Reference Center, run by University Hospital, Grenoble at 1 site in France.
Trial 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. Read more about this study
- Who is it for?
- Ages 17 years and older
- Conditions the study is for
- 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
- How many people
- 53 participants
- Where
- 1 siteFrance
- Study dates
- 1 Dec 2019to 1 Oct 2021
- 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 17 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
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
Who may be able to join
- 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
Who cannot join
- other aetiology of Arthrogryposis multiplex congenita (AMC)
- incomplete MRI or medical files
- interaction with other disease
Trial locations and contacts
1 site in 1 country.
About this study
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.
Read the 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.
- 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
- Being tested
- no intervention
- Keywords
- Arthrogryposis Multiplex Congenita, MRI, mercuri score, fibro-adipous infiltration, fonctionnal capacity, rehabilitation, retrospective observationnal study
- Medical subject headings
- Arthrogryposis
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 |
|---|---|---|
| Amyoplasia | patient with diagnosis of Amyoplasia Receives: Other: no intervention | |
| Distal arthrogryposis | patient with diagnosis of Distal arthrogryposis 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, lower limbs,and trunk evaluated on MRI T1
The degree of muscle fat infiltration was assessed with at least 2 visible slices. We used the four-point scale proposed by Mercuri et al 2002. Each muscle was staged as follows: 1. Normal appearance, 2. Mild involvement. 3. Moderate involvement. 4. Severe involvement.
Measured: during 5 day evaluation
Secondary outcomes (10)
muscle weakness
muscular weakness was assessed by function (flexion, extension etc.) and not by each muscle, using the Medical Research Council scale (0-5) for muscle weakness. The grading 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.
Measured: during 5 day evaluation
passive range of motion
passive range of motion evaluated by physiotherapists, The range of motion of each movement (i.e. amplitude) was normalized with respect to the normal maximal movement, expressed as percentages
Measured: during 5 day evaluation
6 minutes walking test
Mobility was assessed by the 6MWT20, performed by individuals who were asked to walk as self-preferred speed in a straight line on the floor with sequences of 30 meters, with a half-turn at each end. In case of interruption (fatigue, pain, dyspnea), patients were allowed to rest, until they felt able to restart.
Measured: during 5 day evaluation
reaching score
The ability to reach some body targets with upper limbs was assessed by ad hoc test. Individuals sitting on a chair were instructed to successively touch their mouths, heads, necks, backs, opposite shoulders, ipsilateral shoulders, knees and feet, with both hands. Each successful touch scored two points if easily performed, and one point if performed with difficulty. The total score was calculated on both sides averaged and ranged from 0 to 16 points.
Measured: during 5 day evaluation
Functionnal independance measure
Designed to assess areas of dysfunction in activities that commonly occur in subjects with any progressive, reversible or stable neurologic, musculoskeletal, or other disorder ie patients with functional mobility impairmentsThe motor subscale includes: Eating, Grooming, Bathing, Dressing, upper body, Dressing, lower body, Toileting, Bladder management, Bowel management, Transfers - bed/chair, wheelchair, Transfers - toilet, Transfers - bath/shower, Walk/wheelchair, Stairs, The cognition subscale includes: Comprehension, Expression, Social interaction, Problem solving, Memory Each item is scored on a 7 point ordinal scale, ranging from a score of 1 to a score of 7. The higher the score, the more independent the patient is in performing the task associated with that item
Measured: during 5 day evaluation
pain evaluation
based on patient declaration, absence or presence (with pain scale) and pain localisations
Measured: during 5 day evaluation
activities in daily life
Measured: during 5 day evaluation
humain and technical aid
utilisation of technical aid (walking stick, manual or electric wheelchair), or humain for daly life activities
Measured: during 5 day evaluation
respiratory and speech difficulties
surgical history, capacity to speech
Measured: during 5 day evaluation
surgical history
personnal surgical history for each patient
Measured: during 5 day evaluation
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted30 Nov 2021
- Study start1 Dec 2019
- Primary completion1 Jul 2021
- Study completion1 Oct 2021
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 Diagnosis of Arthrogryposis Amyoplasia or Distal ArthrogryposisStudies 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
- 53 participants (actual)
Sponsor and investigators
- Lead sponsor
- University Hospital, Grenoble
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Dominic PERENNOU, MDPHD, Study director, CHU Grenoble AlpesKlaus DIETERICH, MD, Study director, CHU Grenoble Alpes
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05137756
- Sponsor's protocol ID
- 2021-MACHAON
- Acronym
- MACHAON
- Status last verified
- Nov 2021
- First submitted
- 16 Nov 2021
- Last updated
- 30 Nov 2021
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Publications
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.
PubMed 33219145Hall 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 27711114Dai 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.
PubMed 29626181
Study at a glance
From the registry record, last updated by the sponsor on 30 Nov 2021. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Mercuri Analysis Contribution on Handicap Evaluation in ArthrogypOsis, a Congenital Neuromuscular Disease
- ClinicalTrials.gov ID
- NCT05137756
- Acronym / sponsor ID
- MACHAON / 2021-MACHAON
- 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
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 53 participants (actual)
- Lead sponsor
- University Hospital, GrenobleUniversity, hospital or other
- Study start
- 1 Dec 2019 (actual)
- Primary completion
- 1 Jul 2021 (actual)
- Study completion
- 1 Oct 2021 (actual)
- First posted
- 30 Nov 2021 (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 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.
Study design
- Observational model
- Cohort
- Time perspective
- Retrospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Amyoplasia | – | Other: no interventionpatient with diagnosis of Amyoplasia |
| Distal arthrogryposis | – | Other: no interventionpatient with diagnosis of Distal arthrogryposis |
Who may qualify
- Ages
- 17 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- 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
Key inclusion criteria (5 listed)
- 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
Key exclusion criteria (3 listed)
- other aetiology of Arthrogryposis multiplex congenita (AMC)
- incomplete MRI or medical files
- interaction with other disease
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 | Amyoplasia, Distal arthrogryposis |
Primary outcome
Mercuri Scores of upper limbs, lower limbs,and trunk evaluated on MRI T1
Time frame: during 5 day evaluation
The degree of muscle fat infiltration was assessed with at least 2 visible slices. We used the four-point scale proposed by Mercuri et al 2002. Each muscle was staged as follows: 1. Normal appearance, 2. Mild involvement. 3. Moderate involvement. 4. Severe involvement.
10 secondary outcomes
muscle weakness
Time frame: during 5 day evaluation
passive range of motion
Time frame: during 5 day evaluation
6 minutes walking test
Time frame: during 5 day evaluation
reaching score
Time frame: during 5 day evaluation
Functionnal independance measure
Time frame: during 5 day evaluation
pain evaluation
Time frame: during 5 day evaluation
activities in daily life
Time frame: during 5 day evaluation
humain and technical aid
Time frame: during 5 day evaluation
respiratory and speech difficulties
Time frame: during 5 day evaluation
surgical history
Time frame: during 5 day evaluation
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 30 Nov 2021.
- Background: PubMed 33219145Liu 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.
- 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 29626181Dai 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.
- Individual participant dataSharing planned: No
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.
Dominic PERENNOU, MDPHD study director
CHU Grenoble Alpes
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 Diagnosis of Arthrogryposis Amyoplasia or Distal Arthrogryposis and 5 Day Multidisciplinary Evaluation in AMC Clinic of the National Reference Center, 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 5 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 30 Nov 2021. 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, lower limbs,and trunk evaluated on MRI T1 (time frame: during 5 day evaluation). 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 NCT05137756, 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 30 Nov 2021.