Ability of Muscle Imaging and Motor Function Measure (MFM) to Detect Changes in Disease Progression in Ambulant Spinal Muscular Atrophy Patients Compared to Healthy Volunteers.

This study is currently recruiting participants. (see Contacts and Locations)
Verified September 2014 by Hoffmann-La Roche
Information provided by (Responsible Party):
Hoffmann-La Roche
ClinicalTrials.gov Identifier:
First received: January 16, 2014
Last updated: September 10, 2014
Last verified: September 2014

This non-drug, single center, 24-week, longitudinal study in ambulant spinal muscular atrophy (SMA) patients and in age- and gender-matched healthy volunteers will assess the detection of disease progression by magnetic resonance imaging (MRI) and the Muscle Function Measure (MFM) test. Each participant will be evaluated in three testing sessions: at baseline, at Week 12 and at Week 24. Both patients and volunteers will undergo MRI scans. Patients will additionally undergo testing of motor function and have blood samples taken for Survival of the Motor Neuron (SMN) genes, proteins and mRNA analysis.

Healthy Volunteer, Muscular Atrophy, Spinal

Study Type: Observational
Study Design: Observational Model: Case Control
Time Perspective: Prospective
Official Title: A Single Center, Longitudinal, Non-Drug Study to Assess the Ability of Muscle Imaging and of Motor Function Measure (MFM) to Detect Changes in Disease Progression in Ambulant Spinal Muscular Atrophy (SMA) Patients as Compared to Age-Matched Healthy Controls

Resource links provided by NLM:

Further study details as provided by Hoffmann-La Roche:

Primary Outcome Measures:
  • Differences in quantitative muscle MRI based on fat content and T2 values [ Time Frame: At baseline, Week 12 and Week 24 ] [ Designated as safety issue: No ]
  • Disease progression, assessed through the Motor Function Measure test [ Time Frame: At baseline, Week 12 and Week 24 ] [ Designated as safety issue: No ]

Secondary Outcome Measures:
  • Disease progression, assessed with the 6-minute Walk Test. [ Time Frame: At baseline, Week 12 and Week 24 ] [ Designated as safety issue: No ]
  • Levels of Survival of Motor Neuron (SMN) RNA [ Time Frame: At baseline and Week 24 ] [ Designated as safety issue: No ]
  • Levels of SMN proteins [ Time Frame: At baseline and Week 24 ] [ Designated as safety issue: No ]

Biospecimen Retention:   Samples With DNA

Whole blood samples taken at screening and at week 24 from patients with spinal muscular atrophy (SMA).

Estimated Enrollment: 30
Study Start Date: January 2014
Estimated Study Completion Date: November 2014
Estimated Primary Completion Date: November 2014 (Final data collection date for primary outcome measure)
Patients with spinal muscular atrophy
Age- and gender-matched controls


Ages Eligible for Study:   10 Years and older
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population

Ambulant patients with spinal muscular atrophy (SMA) and age- and gender-matched healthy volunteers.


Inclusion Criteria:

  • Male and female subjects, aged >/= 10 years at screening
  • For SMA patients: Confirmed clinical diagnosis of 5q-autosomal recessive SMA, ambulant at time of screening, and preferably without spinal cord fixation

Exclusion Criteria:

  • Previous (3 months or less) or concomitant participation in any other therapeutic trial
  • Known or suspected cancer
  • Other chronic disease or inadequate renal, liver, or heart function
  • Contraindications for MRI scans, including but not limited to: claustrophobia, pacemaker, artificial heart valves, cochlear implants, presence of foreign metal objects in the body, intracranial vascular clips, etc. Any contraindications to MRI found on a standard radiography scan.
  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: NCT02044029

Contact: Reference Study ID Number: BE29037 www.roche.com/about_roche/roche_worldwide.htm 888-662-6728 (U.S. Only) global.rochegenentechtrials@roche.com

Basel, Switzerland, 4005
Sponsors and Collaborators
Hoffmann-La Roche
Study Director: Clinical Trials Hoffmann-La Roche
  More Information

No publications provided

Responsible Party: Hoffmann-La Roche
ClinicalTrials.gov Identifier: NCT02044029     History of Changes
Other Study ID Numbers: BE29037
Study First Received: January 16, 2014
Last Updated: September 10, 2014
Health Authority: N/A: N/A

Additional relevant MeSH terms:
Muscular Atrophy, Spinal
Disease Progression
Muscular Atrophy
Pathological Conditions, Anatomical
Disease Attributes
Pathologic Processes
Neuromuscular Manifestations
Neurologic Manifestations
Nervous System Diseases
Signs and Symptoms
Spinal Cord Diseases
Central Nervous System Diseases
Motor Neuron Disease
Neurodegenerative Diseases
Neuromuscular Diseases

ClinicalTrials.gov processed this record on September 22, 2014