Clinical Study of Spinal Muscular Atrophy
2 other identifiers
observational
120
1 country
1
Brief Summary
The investigators propose to prepare for clinical trials where SMA patients are asked to join the research effort. The visits will include questions, physical exam, blood drawing, and sometimes X-rays and a skin biopsy. The investigators will use modern computer methods to process the information during which the investigators will plan a clinical trial. Once the clinical trial begins, the investigators will offer SMA patients participation if they meet the criteria for that trial. Identifying an effective SMA treatment is very important because there is currently none. Clinical trials are the only way to decide whether a new treatment works in SMA patients or not.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P50-P75 for all trials
Started May 2005
Longer than P75 for all trials
1 active site
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
Click on a node to explore related trials.
Study Timeline
Key milestones and dates
Study Start
First participant enrolled
May 1, 2005
CompletedFirst Submitted
Initial submission to the registry
March 1, 2007
CompletedFirst Posted
Study publicly available on registry
March 5, 2007
CompletedPrimary Completion
Last participant's last visit for primary outcome
August 17, 2011
CompletedStudy Completion
Last participant's last visit for all outcomes
August 17, 2011
CompletedMarch 21, 2023
March 1, 2023
6.3 years
March 1, 2007
March 20, 2023
Conditions
Keywords
Outcome Measures
Primary Outcomes (2)
Hammersmith Functional Motor Scale Expanded (HFMSE)
For SMAII/III patients over 2 years of age, we will additionally administer the Hammersmith SMA functional motor scale (H-SMA-FMS), a disease-specific instrument.
Up to 36 months
Gross Motor Function Scale (GMFM)
The GMFM contains 88 items in 5 dimensions: (A) lying and rolling, (B) sitting, (C) crawling, (D) standing, and (E) walking.
Up to 36 months
Eligibility Criteria
People diagnosed with Spinal Muscular Atrophy types I, II, or III before the age of 17.
You may qualify if:
- Clinical diagnosis of Spinal Muscular Atrophy
- Genetic diagnosis of SMN gene deletion
- Parents or if applicable subjects must give informed consent
- must be capable of complying with the study procedures
- Female subjects of child-bearing potential must agree to undergo pregnancy test prior to radiological studies
- Diagnosis of SMA before age 19 years
You may not qualify if:
- Unstable medical condition precluding participation
- Significant respiratory compromise that would interfere with safe travel to site of evaluation. (The clinical site PI decides when air travel is not recommended and when the patient's location is not within a reasonably safe driving distance (upper limit 150-250 miles)
Contact the study team to confirm eligibility.
Sponsors & Collaborators
- Columbia Universitylead
- The Spinal Muscular Atrophy Foundationcollaborator
Study Sites (1)
Columbia University SMA Clinical Research Center
New York, New York, 10032, United States
Biospecimen
blood and skin tissue
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Study Officials
- PRINCIPAL INVESTIGATOR
Darryl C De Vivo, MD
Columbia University
Study Design
- Study Type
- observational
- Observational Model
- CASE ONLY
- Time Perspective
- PROSPECTIVE
- Sponsor Type
- OTHER
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
March 1, 2007
First Posted
March 5, 2007
Study Start
May 1, 2005
Primary Completion
August 17, 2011
Study Completion
August 17, 2011
Last Updated
March 21, 2023
Record last verified: 2023-03
Data Sharing
- IPD Sharing
- Will not share