Limb Girdle Muscular Dystrophies
Conditions
Keywords
Limb Girdle Muscular Dystrophies (LGMD), motricity, instrumental assessment
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.
Interventions
None listed
Sponsors
Assistance Publique - Hôpitaux de Paris
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to 70 Years
Healthy volunteers
Yes
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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Change from baseline on maximal strength | Assessed at 6 months, 12 months, 18 months and 24 months | 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). |
| Change from baseline on peak hip flexion | Assessed at 6 months, 12 months, 18 months and 24 months | Hip flexion peak during gait will be evaluated with tridimensional gait analysis with an optoelectronic system ((Optitrack system, Natural Point Inc. Corvallis, OR, USA) |
| Change from baseline on speed of center of pression during standing postural control | Assessed at 6 months, 12 months, 18 months and 24 months | Speed of center of pression will be measured by force platforms (AMTI, Advanced Mechanical Technology). |
| Change from baseline on elbow peak extension during upper limb spatial exploration | Assessed at 6 months, 12 months, 18 months and 24 months | Elbow peak extension will be measured biomechanically with an optoelectronic system during upper limb spatial exploration (Optitrack system, Natural Point Inc. Corvallis, OR, USA) |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Joint kinematic parameters: change from baseline on step width | Assessed at 6 months, 12 months, 18 months and 24 months | Spatio-temporal from biomechanical gait analysis: an optoelectronic system (Optitrack system, Natural Point Inc. Corvallis, OR, USA) will be used. |
| Joint kinematic parameters: change from baseline on % single support phase of gait cycle | Assessed at 6 months, 12 months, 18 months and 24 months | Spatio-temporal from biomechanical gait analysis: an optoelectronic system (Optitrack system, Natural Point Inc. Corvallis, OR, USA) will be used. |
| Joint kinematic parameters: change from baseline on % swing phase of gait cycle | Assessed at 6 months, 12 months, 18 months and 24 months | Spatio-temporal from biomechanical gait analysis: an optoelectronic system (Optitrack system, Natural Point Inc. Corvallis, OR, USA) will be used. |
| Joint kinematic parameters: change from baseline on % support phase of gait cycle | Assessed at 6 months, 12 months, 18 months and 24 months | Spatio-temporal from biomechanical gait analysis: an optoelectronic system (Optitrack system, Natural Point Inc. Corvallis, OR, USA) will be used. |
| Change from baseline on kinetic gait parameters | Assessed at 6 months, 12 months, 18 months and 24 months | 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. |
| Change from baseline on standing postural control parameters: COP displacements | Assessed at 6 months, 12 months, 18 months and 24 months | 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. |
| Change from baseline on standing postural control parameters: elliptic surface | Assessed at 6 months, 12 months, 18 months and 24 months | 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. |
| Change from baseline on standing postural control parameters: Amplitude of COP | Assessed at 6 months, 12 months, 18 months and 24 months | 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. |
| Change from baseline on standing postural control parameters: Romberg quotient | Assessed at 6 months, 12 months, 18 months and 24 months | 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. |
| Change from baseline on standing postural orientation parameters | Assessed at 6 months, 12 months, 18 months and 24 months | 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. |
| Change from baseline on standing postural orientation parameters: limb loading ratio | Assessed at 6 months, 12 months, 18 months and 24 months | 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. |
| Change from baseline on drinking task with left and right upper limb: velocity and movement time | Assessed at 6 months, 12 months, 18 months and 24 months | 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) |
| Change from baseline on drinking task with left and right upper limb: movement strategy | Assessed at 6 months, 12 months, 18 months and 24 months | 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) |
| Change from baseline on drinking task with left and right upper limb: smoothness and coordination movement | Assessed at 6 months, 12 months, 18 months and 24 months | 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) |
| Change from baseline on muscular parameters | Assessed at 6 months, 12 months, 18 months and 24 months | Maximal strength during isometric tests of hip, knee flexors, ankle and maximal grip strength. (Biodex Medical Systems Inc., Shirley, New York, USA) Muscular fatigue |
| Change from baseline on drinking task with left and right upper limb: angular joint | Assessed at 6 months, 12 months, 18 months and 24 months | 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 |
| Change from baseline on 6 minutes walking test distance | Assessed at 6 months, 12 months, 18 months and 24 months | 6 minutes walking test |
| Change from baseline on the Berg Balance Scale score | Assessed at 6 months, 12 months, 18 months and 24 months | The Berg Balance Scale |
| Change from baseline on Brooke Upper Extremity Scale score | Assessed at 6 months, 12 months, 18 months and 24 months | Brooke Upper Extremity Scale score for upper extremity capacities. |
| Change from baseline on locomotor | Assessed at 6 months, 12 months, 18 months and 24 months | Questionnaires Abiloco |
| Change from baseline on upper limb capacities | Assessed at 6 months, 12 months, 18 months and 24 months | Questionnaires Abilhand |
| Change from baseline on patient occupations | Assessed at 6 months, 12 months, 18 months and 24 months | 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. |
| Change from baseline on MRC (Medical Research Council) score on flexors and extensors of lower and upper limb | Assessed at 6 months, 12 months, 18 months and 24 months | 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. |
| Change from baseline on Fatigue Severity Scale (FSS) score | Assessed at 6 months, 12 months, 18 months and 24 months | Questionnaire Fatigue Severity Scale (FSS) for fatigue assessment |
| 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) | Assessed at 6 months, 12 months, 18 months and 24 months | Quality of life questionnaire: INQoL |
| Change from baseline on drinking task with left and right upper limb: trunk displacement | Assessed at 6 months, 12 months, 18 months and 24 months | 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 |
| Joint kinematic parameters: change from baseline on gait speed | Assessed at 6 months, 12 months, 18 months and 24 months | 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) |
| Joint kinematic parameters: change from baseline on step length | Assessed at 6 months, 12 months, 18 months and 24 months | Spatio-temporal from biomechanical gait analysis: an optoelectronic system (Optitrack system, Natural Point Inc. Corvallis, OR, USA) will be used. |
| Joint kinematic parameters: change from baseline on cadence | Assessed at 6 months, 12 months, 18 months and 24 months | Spatio-temporal from biomechanical gait analysis: an optoelectronic system (Optitrack system, Natural Point Inc. Corvallis, OR, USA) will be used. |
Countries
France
Contacts
Primary ContactCéline BONNYAUD, PhD
Backup ContactSamuel POUPLIN
Outcome results
None listed