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

This study has been completed.
Sponsor:
Information provided by (Responsible Party):
Institut de Myologie, France
ClinicalTrials.gov Identifier:
NCT01611610
First received: May 30, 2012
Last updated: March 4, 2014
Last verified: March 2014
  Purpose

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.


Condition Intervention
Spinal Muscular Atrophy
Other: Functional tests

Study Type: Interventional
Study Design: Allocation: Non-Randomized
Intervention Model: Parallel Assignment
Masking: Open Label
Official Title: Clinical Assessment of Spinal Muscular Atrophy Type II and III

Resource links provided by NLM:


Further study details as provided by Institut de Myologie, France:

Primary Outcome Measures:
  • Change from baseline in total score of Motor Function Measure at one year [ Time Frame: at baseline and one year after ] [ Designated as safety issue: No ]

Secondary Outcome Measures:
  • Change from baseline of Pediatric Quality of Life Inventory Score at one year [ Time Frame: at baseline and one year after ] [ Designated as safety issue: No ]
    Pediatric Quality of Life Inventory - neuromuscular module


Enrollment: 4
Study Start Date: May 2011
Study Completion Date: May 2013
Primary Completion Date: May 2013 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
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
Non-ambulant SMA 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

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.

  Eligibility

Ages Eligible for Study:   30 Months to 18 Years
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
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
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01611610

Sponsors and Collaborators
Institut de Myologie, France
Investigators
Principal Investigator: Laurent Servais, MD, PhD Institut de Myologie
  More Information

No publications provided

Responsible Party: Institut de Myologie, France
ClinicalTrials.gov Identifier: NCT01611610     History of Changes
Other Study ID Numbers: SMA Europe
Study First Received: May 30, 2012
Last Updated: March 4, 2014
Health Authority: France: Afssaps - Agence française de sécurité sanitaire des produits de santé (Saint-Denis)

Keywords provided by Institut de Myologie, France:
outcome measures
spinal muscular atrophy

Additional relevant MeSH terms:
Atrophy
Muscular Atrophy, Spinal
Muscular Atrophy
Spinal Muscular Atrophies of Childhood
Spinal Cord Diseases
Pathological Conditions, Anatomical
Central Nervous System Diseases
Nervous System Diseases
Motor Neuron Disease
Neurodegenerative Diseases
Neuromuscular Diseases
Neuromuscular Manifestations
Neurologic Manifestations
Signs and Symptoms
Heredodegenerative Disorders, Nervous System
Genetic Diseases, Inborn

ClinicalTrials.gov processed this record on September 30, 2014