Clinical Assessment of Spinal Muscular Atrophy Type II and III (SMA Europe)

Institut de Myologie, France

Status

Completed

Conditions

Spinal Muscular Atrophy

Treatments

Other: Functional tests

Study type

Interventional

Funder types

Other

Identifiers

NCT01611610

SMA Europe

Details and patient eligibility

About

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.

Full description

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.

Enrollment

4 patients

Sex

All

Ages

30 months to 18 years old

Volunteers

No Healthy Volunteers

Inclusion and exclusion criteria

Inclusion Criteria for ambulant patients:

age between 30 months and 24 years
documented SMA diagnosis by genetic tests; Each should also have the determination of the SMN2 copy number
able to walk 10 meters without support
subject who signed an informed consent- subject affiliated to a social security system

Inclusion Criteria non ambulant patients:

documented diagnosis of SMA by genetic tests
not able to walk 10 meters without support
subject affiliated to a social security system
subject who signed an informed consent

Exclusion Criteria:

Patient who are currently involved in other clinical trials
severe intellectual impairment limiting the comprehension of the demanded tasks
acute neurologic, inflammatory, infectious, endocrine, orthopedic disease in the month preceding the inclusion
chronic neurologic (besides SMA), inflammatory, infectious, endocrine, orthopedic disease which are not a natural consequence of SMA
spinal surgery scheduled 6 months before or within 12 months after enrollment
pregnant women