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

Clinical Assessment of Spinal Muscular Atrophy Type II and III

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.

Study Overview

• Status: Completed
• Conditions: Spinal Muscular Atrophy
• Intervention / Treatment: Other: Functional tests; Other: Functional tests

Detailed 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.

• Study Type: Interventional
• Enrollment (Actual): 4
• Phase: Not Applicable

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 11 months to 14 years (Child, Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

Description

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

Study Plan

How is the study designed?

Design Details

• Allocation: Non-Randomized
• Interventional Model: Parallel Assignment
• Masking: None (Open Label)

Number of Arms

2

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Other: Ambulant SMA	Other: Functional tests; The ambulant patients will perform; MFM (20 items); Hammersmith modified module - MHMFS; Timed tests (time to rise from the floor,...); 6 minute walk test; PedsQL - neuromuscular module; Other: Functional tests; The non-ambulant patients will perform: MFM (20 items); Hammersmith modified module - MHMFS; Upper Limb Functional Items; Egen Klassifikation 2 questionnaire - EK2; PedsQL questionnaire - neuromuscular module
Other: Non-ambulant SMA	Other: Functional tests; The ambulant patients will perform; MFM (20 items); Hammersmith modified module - MHMFS; Timed tests (time to rise from the floor,...); 6 minute walk test; PedsQL - neuromuscular module; Other: Functional tests; The non-ambulant patients will perform: MFM (20 items); Hammersmith modified module - MHMFS; Upper Limb Functional Items; Egen Klassifikation 2 questionnaire - EK2; PedsQL questionnaire - neuromuscular module

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
Change from baseline in total score of Motor Function Measure at one year	at baseline and one year after

Secondary Outcome Measures

Outcome Measure	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

Collaborators and Investigators

• Sponsor: Institut de Myologie, France

Study record dates

Study Major Dates

• Study Start: May 1, 2011
• Primary Completion (Actual): May 1, 2013
• Study Completion (Actual): May 1, 2013

Study Registration Dates

• First Submitted: May 30, 2012
• First Submitted That Met QC Criteria: June 1, 2012
• First Posted (Estimate): June 5, 2012

Study Record Updates

• Last Update Posted (Estimate): March 5, 2014
• Last Update Submitted That Met QC Criteria: March 4, 2014
• Last Verified: March 1, 2014

More Information

Terms related to this study

• Keywords: outcome measures; spinal muscular atrophy
• Additional Relevant MeSH Terms: Central Nervous System Diseases; Nervous System Diseases; Neurologic Manifestations; Genetic Diseases, Inborn; Neuromuscular Diseases; Neurodegenerative Diseases; Neuromuscular Manifestations; Pathological Conditions, Anatomical; Spinal Cord Diseases; Heredodegenerative Disorders, Nervous System; Motor Neuron Disease; Muscular Atrophy; Atrophy; Muscular Atrophy, Spinal; Spinal Muscular Atrophies of Childhood
• Other Study ID Numbers: SMA Europe