Clinical trial NCT04772027: Motor Parameters in Patients With Limb Girdle Muscular Dystrophy
Official title: Characterization and Identification of Motor Parameters Using Instrumental Assessment in Patients With Limb Girdle Muscular Dystrophy
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Limb Girdle Muscular Dystrophies
Keywords: Limb Girdle Muscular Dystrophies (LGMD)
motricity
instrumental assessment
Lead sponsor: Assistance Publique - Hôpitaux de Paris
Sponsor class: OTHER
First posted: 2021-02-25
Enrollment: 80
Sex: ALL
Minimum age (years): 18
Maximum age (years): 70
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: COHORT
Time perspective: PROSPECTIVE
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.

Brief summary: 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.

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.

Eligibility criteria: 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.

Primary outcomes:
measure: Change from baseline on maximal strength
timeFrame: Assessed at 6 months, 12 months, 18 months and 24 months
measure: Change from baseline on peak hip flexion
timeFrame: Assessed at 6 months, 12 months, 18 months and 24 months
measure: Change from baseline on speed of center of pression during standing postural control
timeFrame: Assessed at 6 months, 12 months, 18 months and 24 months
measure: Change from baseline on elbow peak extension during upper limb spatial exploration
timeFrame: Assessed at 6 months, 12 months, 18 months and 24 months
Secondary outcomes:
measure: Change from baseline on muscular parameters
timeFrame: Assessed at 6 months, 12 months, 18 months and 24 months
measure: Joint kinematic parameters: change from baseline on gait speed
timeFrame: Assessed at 6 months, 12 months, 18 months and 24 months
measure: Joint kinematic parameters: change from baseline on step length
timeFrame: Assessed at 6 months, 12 months, 18 months and 24 months
measure: Joint kinematic parameters: change from baseline on cadence
timeFrame: Assessed at 6 months, 12 months, 18 months and 24 months
measure: Joint kinematic parameters: change from baseline on step width
timeFrame: Assessed at 6 months, 12 months, 18 months and 24 months
measure: Joint kinematic parameters: change from baseline on % single support phase of gait cycle
timeFrame: Assessed at 6 months, 12 months, 18 months and 24 months
measure: Joint kinematic parameters: change from baseline on % swing phase of gait cycle
timeFrame: Assessed at 6 months, 12 months, 18 months and 24 months
measure: Joint kinematic parameters: change from baseline on % support phase of gait cycle
timeFrame: Assessed at 6 months, 12 months, 18 months and 24 months
measure: Change from baseline on kinetic gait parameters
timeFrame: Assessed at 6 months, 12 months, 18 months and 24 months
measure: Change from baseline on standing postural control parameters: COP displacements
timeFrame: Assessed at 6 months, 12 months, 18 months and 24 months
measure: Change from baseline on standing postural control parameters: elliptic surface
timeFrame: Assessed at 6 months, 12 months, 18 months and 24 months
measure: Change from baseline on standing postural control parameters: Amplitude of COP
timeFrame: Assessed at 6 months, 12 months, 18 months and 24 months
measure: Change from baseline on standing postural control parameters: Romberg quotient
timeFrame: Assessed at 6 months, 12 months, 18 months and 24 months
measure: Change from baseline on standing postural orientation parameters
timeFrame: Assessed at 6 months, 12 months, 18 months and 24 months
measure: Change from baseline on standing postural orientation parameters: limb loading ratio
timeFrame: Assessed at 6 months, 12 months, 18 months and 24 months
measure: Change from baseline on drinking task with left and right upper limb: velocity and movement time
timeFrame: Assessed at 6 months, 12 months, 18 months and 24 months
measure: Change from baseline on drinking task with left and right upper limb: movement strategy
timeFrame: Assessed at 6 months, 12 months, 18 months and 24 months
measure: Change from baseline on drinking task with left and right upper limb: smoothness and coordination movement
timeFrame: Assessed at 6 months, 12 months, 18 months and 24 months
measure: Change from baseline on drinking task with left and right upper limb: trunk displacement
timeFrame: Assessed at 6 months, 12 months, 18 months and 24 months
measure: Change from baseline on drinking task with left and right upper limb: angular joint
timeFrame: Assessed at 6 months, 12 months, 18 months and 24 months
measure: Change from baseline on 6 minutes walking test distance
timeFrame: Assessed at 6 months, 12 months, 18 months and 24 months
measure: Change from baseline on the Berg Balance Scale score
timeFrame: Assessed at 6 months, 12 months, 18 months and 24 months
measure: Change from baseline on Brooke Upper Extremity Scale score
timeFrame: Assessed at 6 months, 12 months, 18 months and 24 months
measure: Change from baseline on locomotor
timeFrame: Assessed at 6 months, 12 months, 18 months and 24 months
measure: Change from baseline on upper limb capacities
timeFrame: Assessed at 6 months, 12 months, 18 months and 24 months
measure: Change from baseline on patient occupations
timeFrame: Assessed at 6 months, 12 months, 18 months and 24 months
measure: Change from baseline on MRC (Medical Research Council) score on flexors and extensors of lower and upper limb
timeFrame: Assessed at 6 months, 12 months, 18 months and 24 months
measure: Change from baseline on Fatigue Severity Scale (FSS) score
timeFrame: Assessed at 6 months, 12 months, 18 months and 24 months
measure: Change from baseline on number of fall risks
timeFrame: Assessed at 6 months, 12 months, 18 months and 24 months
measure: Change from baseline on number of physiotherapy sessions per week
timeFrame: at baseline, 6 months, 12 months, 18 months and 24 months
measure: Change from baseline on number of sports practice per week
timeFrame: at baseline, 6 months, 12 months, 18 months and 24 months
measure: Change from baseline on Individualized Neuromuscular Quality of Life Questionnaire (INQoL)
timeFrame: Assessed at 6 months, 12 months, 18 months and 24 months
Other outcomes:
Locations:
city: Garche
country: France
facility: Laboratoire d'analyse du mouvement, Service d'exploration fonctionnelles, Hôpital Raymond Poincaré, APHP
Study officials:
affiliation: Laboratoire d'analyse du mouvement, Service d'explorations fonctionnelles, Hôpital Raymond Poincaré, APHP
name: Céline BONNYAUD, PhD
role: PRINCIPAL_INVESTIGATOR
affiliation: Plateforme Nouvelles Technologies, Hôpital Raymond Poincaré, APHP
name: Samuel POUPLIN
role: STUDY_DIRECTOR
References: