Motor Parameters in Patients With Limb Girdle Muscular Dystrophy (EIDY)

Characterization and Identification of Motor Parameters Using Instrumental Assessment in Patients With Limb Girdle Muscular Dystrophy

The primary objective of the study is to perform 2-year follow up with motor parameters evolution using instrumental assessments in patients with limb girdle muscular dystrophie, and to identify which motor parameters are sensitive to change.

The secondary objectives of the study are:

• to describe the changes of the parameters obtained from instrumental evaluations in comparison with the changes obtained from clinical assessments.
• to characterize the muscular impairments, the biomechanical gait disorders, the standing postural control disorders, the biomechanical upper limb disorders in spatial exploration, the limitation of upper limb capacities, the fatigue, the endurance, the patients' participation to their activities and their quality of life, in comparison with a healthy paired population.
• to highlight the relationships between muscular assessment parameters, biomechanical gait parameters, standing posture control and upper limb spatial exploration.
• to highlight the relationships between data from instrumental assessments and data from clinical assessments.
• to highlight the relationships between instrumental assessments data and clinical assessments data on one side, and features of patients (age, sex, duration since diagnosis, type of LGMD, rehabilitation in follow-up, sportive practices...) on the other side.

Study Overview

• Status: Recruiting
• Conditions: Limb Girdle Muscular Dystrophies

Detailed Description

This is a monocentric study in which 2 sub-groups of people will be enrolled: LGMD patients and healthy volunteers. Each enrolled LGMD patient will have 5 visits during 2 years, one baseline visit and four half-yearly visits. Each enrolled healthy volunteer will have one planned visit only. The duration of enrollments will last 20 months.

• Study Type: Observational
• Enrollment (Estimated): 80

Contacts and Locations

• Study Contact: Name: Céline BONNYAUD, PhD; Phone Number: +33 (0)1 71 14 49 21; Email: celine.bonnyaud@aphp.fr
• Study Contact Backup: Name: Samuel POUPLIN; Phone Number: +33 (0)1 47 10 70 61; Email: samuel.pouplin@aphp.fr

Study Locations

• France
  • Garche, France, 92380
    • Recruiting
    • Laboratoire d'analyse du mouvement, Service d'exploration fonctionnelles, Hôpital Raymond Poincaré, APHP

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years to 70 years (Adult, Older Adult)
• Accepts Healthy Volunteers: Yes

• Sampling Method: Non-Probability Sample

Study Population

Population with limb girdle muscular dystrophie for 2-year longitudinal follow-up in Raymond Poincaré hospital. The 4 most common types of diseases: calpainopathy, sarcoglycanopathy, dysferlinopathy and alpha-dystroglycanopathy.

Control group: healthy population without neuromuscular or squeletic disorder.

Description

Inclusion Criteria:

• For limb girdle muscular dystrophie group:

  • Patients diagnosed limb girdle muscular dystrophie;
  • Aged between 18 and 70 years;
  • Covered by the French social security scheme;
  • Patient able to maintain upright position alone;
  • Able to walk at least 10 meters and 6 minutes consecutively without help.

• For Volunteer group:

  • Adult (18 to 70 years) without neuromuscular or squeletic disorder.

Exclusion Criteria:

§ For all:

• Without associated neuromuscular disorders such as respiratory or muscular-squeletic diseases, apart from the consequences of dystrophy;
• Contraindication to the tests;
• Noncontrol cardiac rhythm disorders;
• Lying down position intolerance due to severe respiratory troubles;
• Pregnant or breastfeeding woman.

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Prospective

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort
Muscular dystrophies group; 40 patients with limb girdle muscular dystrophie
Comparator group; 40 healthy volunteers without neuromuscular or squeletic disorder

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Change from baseline on maximal strength	Maximal strength and muscular activation of knee extensors will be evaluated by isometric test with an isokinetic dynamometer (Biodex Medical Systems Inc., Shirley, New York, USA).	Assessed at 6 months, 12 months, 18 months and 24 months
Change from baseline on peak hip flexion	Hip flexion peak during gait will be evaluated with tridimensional gait analysis with an optoelectronic system ((Optitrack system, Natural Point Inc. Corvallis, OR, USA)	Assessed at 6 months, 12 months, 18 months and 24 months
Change from baseline on speed of center of pression during standing postural control	Speed of center of pression will be measured by force platforms (AMTI, Advanced Mechanical Technology).	Assessed at 6 months, 12 months, 18 months and 24 months
Change from baseline on elbow peak extension during upper limb spatial exploration	Elbow peak extension will be measured biomechanically with an optoelectronic system during upper limb spatial exploration (Optitrack system, Natural Point Inc. Corvallis, OR, USA)	Assessed at 6 months, 12 months, 18 months and 24 months

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Change from baseline on muscular parameters	Maximal strength during isometric tests of hip, knee flexors, ankle and maximal grip strength. (Biodex Medical Systems Inc., Shirley, New York, USA) Muscular fatigue	Assessed at 6 months, 12 months, 18 months and 24 months
Joint kinematic parameters: change from baseline on gait speed	Spatio-temporal from biomechanical gait analysis: an optoelectronic system (Optitrack system, Natural Point Inc. Corvallis, OR, USA) will be used. Spatio-temporal = speed (m/s)	Assessed at 6 months, 12 months, 18 months and 24 months
Joint kinematic parameters: change from baseline on step length	Spatio-temporal from biomechanical gait analysis: an optoelectronic system (Optitrack system, Natural Point Inc. Corvallis, OR, USA) will be used.	Assessed at 6 months, 12 months, 18 months and 24 months
Joint kinematic parameters: change from baseline on cadence	Spatio-temporal from biomechanical gait analysis: an optoelectronic system (Optitrack system, Natural Point Inc. Corvallis, OR, USA) will be used.	Assessed at 6 months, 12 months, 18 months and 24 months
Joint kinematic parameters: change from baseline on step width	Spatio-temporal from biomechanical gait analysis: an optoelectronic system (Optitrack system, Natural Point Inc. Corvallis, OR, USA) will be used.	Assessed at 6 months, 12 months, 18 months and 24 months
Joint kinematic parameters: change from baseline on % single support phase of gait cycle	Spatio-temporal from biomechanical gait analysis: an optoelectronic system (Optitrack system, Natural Point Inc. Corvallis, OR, USA) will be used.	Assessed at 6 months, 12 months, 18 months and 24 months
Joint kinematic parameters: change from baseline on % swing phase of gait cycle	Spatio-temporal from biomechanical gait analysis: an optoelectronic system (Optitrack system, Natural Point Inc. Corvallis, OR, USA) will be used.	Assessed at 6 months, 12 months, 18 months and 24 months
Joint kinematic parameters: change from baseline on % support phase of gait cycle	Spatio-temporal from biomechanical gait analysis: an optoelectronic system (Optitrack system, Natural Point Inc. Corvallis, OR, USA) will be used.	Assessed at 6 months, 12 months, 18 months and 24 months
Change from baseline on kinetic gait parameters	Kinetic parameters will be obtained from biomechanical gait analysis with AMTI force plateforms (Advanced Mechanical Technology, Waterton, MA, USA). This includes peak of ground reaction force in antero-posterior and vertical axis.	Assessed at 6 months, 12 months, 18 months and 24 months
Change from baseline on standing postural control parameters: COP displacements	Parameters of stabilization and postural orientation during postural control assessment on force platforms (AMTI, Advanced Mechanical Technology), Waterton, MA, USA). Parameters of stabilization include: Mean and maximal speed of center of pression (COP) displacements.	Assessed at 6 months, 12 months, 18 months and 24 months
Change from baseline on standing postural control parameters: elliptic surface	Parameters of stabilization and postural orientation during postural control assessment on force platforms (AMTI, Advanced Mechanical Technology), Waterton, MA, USA). Parameters of stabilization include: Elliptic surface covering 90% of COP positions.	Assessed at 6 months, 12 months, 18 months and 24 months
Change from baseline on standing postural control parameters: Amplitude of COP	Parameters of stabilization and postural orientation during postural control assessment on force platforms (AMTI, Advanced Mechanical Technology), Waterton, MA, USA). Parameters of stabilization include: Amplitude of COP shift in anteroposterior and mediolateral axis.	Assessed at 6 months, 12 months, 18 months and 24 months
Change from baseline on standing postural control parameters: Romberg quotient	Parameters of stabilization and postural orientation during postural control assessment on force platforms (AMTI, Advanced Mechanical Technology), Waterton, MA, USA). Parameters of stabilization include: Romberg quotient.	Assessed at 6 months, 12 months, 18 months and 24 months
Change from baseline on standing postural orientation parameters	Parameters of stabilization and postural orientation during postural control assessment on force platforms (AMTI, Advanced Mechanical Technology), Waterton, MA, USA). The orientation parameters include: mean position of COP in anteroposterior and mediolateral axis.	Assessed at 6 months, 12 months, 18 months and 24 months
Change from baseline on standing postural orientation parameters: limb loading ratio	Parameters of stabilization and postural orientation during postural control assessment on force platforms (AMTI, Advanced Mechanical Technology), Waterton, MA, USA). The orientation parameters include: limb loading ratio.	Assessed at 6 months, 12 months, 18 months and 24 months
Change from baseline on drinking task with left and right upper limb: velocity and movement time	The spatio-temporal parameters will be obtained from biomechanical analysis with an optoelectronic system (Optitrack system, Natural Point Inc. Corvallis, OR, USA) including: Velocity and movement time (Total movement time / Peak velocity/ Mean velocity)	Assessed at 6 months, 12 months, 18 months and 24 months
Change from baseline on drinking task with left and right upper limb: movement strategy	The spatio-temporal parameters will be obtained from biomechanical analysis with an optoelectronic system (Optitrack system, Natural Point Inc. Corvallis, OR, USA) including: Movement strategy (Time to peak velocity / time to first peak)	Assessed at 6 months, 12 months, 18 months and 24 months
Change from baseline on drinking task with left and right upper limb: smoothness and coordination movement	The spatio-temporal parameters will be obtained from biomechanical analysis with an optoelectronic system (Optitrack system, Natural Point Inc. Corvallis, OR, USA) including: Smoothness and coordination movement (number of movements units / interjoint coordination)	Assessed at 6 months, 12 months, 18 months and 24 months
Change from baseline on drinking task with left and right upper limb: trunk displacement	The spatio-temporal parameters will be obtained from biomechanical analysis with an optoelectronic system (Optitrack system, Natural Point Inc. Corvallis, OR, USA) including: Trunk displacement	Assessed at 6 months, 12 months, 18 months and 24 months
Change from baseline on drinking task with left and right upper limb: angular joint	The spatio-temporal parameters will be obtained from biomechanical analysis with an optoelectronic system (Optitrack system, Natural Point Inc. Corvallis, OR, USA) including: Angular joint	Assessed at 6 months, 12 months, 18 months and 24 months
Change from baseline on 6 minutes walking test distance	6 minutes walking test	Assessed at 6 months, 12 months, 18 months and 24 months
Change from baseline on the Berg Balance Scale score	The Berg Balance Scale	Assessed at 6 months, 12 months, 18 months and 24 months
Change from baseline on Brooke Upper Extremity Scale score	Brooke Upper Extremity Scale score for upper extremity capacities.	Assessed at 6 months, 12 months, 18 months and 24 months
Change from baseline on locomotor	Questionnaires Abiloco	Assessed at 6 months, 12 months, 18 months and 24 months
Change from baseline on upper limb capacities	Questionnaires Abilhand	Assessed at 6 months, 12 months, 18 months and 24 months
Change from baseline on patient occupations	Patient occupations assessed by COPM (Canadian Occupational Performance Measure). The measurement will be from 1 (not at all performant) to 10 (very performant) as score.	Assessed at 6 months, 12 months, 18 months and 24 months
Change from baseline on MRC (Medical Research Council) score on flexors and extensors of lower and upper limb	Testing MRC (Medical Research Council), a scale for muscle power. The muscle scale grades muscle power on a scale of 0 to 5 in relation to the maximum expected for that muscle.	Assessed at 6 months, 12 months, 18 months and 24 months
Change from baseline on Fatigue Severity Scale (FSS) score	Questionnaire Fatigue Severity Scale (FSS) for fatigue assessment	Assessed at 6 months, 12 months, 18 months and 24 months
Change from baseline on number of fall risks		Assessed at 6 months, 12 months, 18 months and 24 months
Change from baseline on number of physiotherapy sessions per week		at baseline, 6 months, 12 months, 18 months and 24 months
Change from baseline on number of sports practice per week		at baseline, 6 months, 12 months, 18 months and 24 months
Change from baseline on Individualized Neuromuscular Quality of Life Questionnaire (INQoL)	Quality of life questionnaire: INQoL	Assessed at 6 months, 12 months, 18 months and 24 months

Collaborators and Investigators

• Sponsor: Assistance Publique - Hôpitaux de Paris
• Investigators: Principal Investigator: Céline BONNYAUD, PhD, Laboratoire d'analyse du mouvement, Service d'explorations fonctionnelles, Hôpital Raymond Poincaré, APHP; Study Director: Samuel POUPLIN, Plateforme Nouvelles Technologies, Hôpital Raymond Poincaré, APHP

Study record dates

Study Major Dates

• Study Start (Actual): April 1, 2021
• Primary Completion (Estimated): January 1, 2025
• Study Completion (Estimated): January 1, 2025

Study Registration Dates

• First Submitted: January 7, 2021
• First Submitted That Met QC Criteria: February 24, 2021
• First Posted (Actual): February 25, 2021

Study Record Updates

• Last Update Posted (Actual): September 6, 2023
• Last Update Submitted That Met QC Criteria: September 4, 2023
• Last Verified: September 1, 2023

More Information

Terms related to this study

• Keywords: Limb Girdle Muscular Dystrophies (LGMD); motricity; instrumental assessment
• Additional Relevant MeSH Terms: Nervous System Diseases; Genetic Diseases, Inborn; Musculoskeletal Diseases; Muscular Diseases; Neuromuscular Diseases; Muscular Disorders, Atrophic; Muscular Dystrophies; Muscular Dystrophies, Limb-Girdle
• Other Study ID Numbers: APHP200141; 2020-A02090-39 (Registry Identifier: IDRCB)

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No