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The aim of this project is to establish a network of clinical teams including the major neuromuscular centers in Europe.
We plan to work together to find the best common outcome measures for the following multicenter therapeutic trials.
16 patients (6 ambulant and 10 non ambulant), affected by type II and type III SMA will be enrolled and assessed at baseline and 6 and 12 months later. Non ambulant patients will be assessed using the modified version of the Hammersmith Motor Functional Scale while ambulant patients will be assessed using the extended module of the Hammersmith Motor Functional Scale and timed items, the 6 minute walk and a step activity monitor. All patients will also be assessed using the Motor Function Measure (MFM), that covers the whole range of activities for both ambulant and non ambulant patients. All measures will undergo a process of validation including inter observer reliability. This information will be most valuable for any future trial and will make the groups involved ready to participate to future collaborative studies saving a lot of time on the preliminary aspects (validation, reliability, training) that will be fulfilled by the present study. The study will also provide natural history data for a 12 month period on patients with SMA II and III.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Ambulant SMA | Other |
| |
| Non-ambulant SMA | Other |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Functional tests | Other | The ambulant patients will perform
|
| Measure | Description | Time Frame |
|---|---|---|
| Change from baseline in total score of Motor Function Measure at one year | at baseline and one year after |
| Measure | Description | Time Frame |
|---|---|---|
| Change from baseline of Pediatric Quality of Life Inventory Score at one year | Pediatric Quality of Life Inventory - neuromuscular module | at baseline and one year after |
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Inclusion Criteria for ambulant patients:
Inclusion Criteria non ambulant patients:
Exclusion Criteria:
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| Name | Affiliation | Role |
|---|---|---|
| Laurent Servais, MD, PhD | Institut de Myologie | Principal Investigator |
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| ID | Term |
|---|---|
| D009134 | Muscular Atrophy, Spinal |
| ID | Term |
|---|---|
| D013118 | Spinal Cord Diseases |
| D002493 | Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
| D016472 | Motor Neuron Disease |
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| Functional tests | Other | The non-ambulant patients will perform:
|
|
| D019636 | Neurodegenerative Diseases |
| D009468 | Neuromuscular Diseases |