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Clinical Study of Spinal Muscular Atrophy

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
ClinicalTrials.gov Identifier: NCT00443066
Recruitment Status : Completed
First Posted : March 5, 2007
Last Update Posted : March 21, 2023
The Spinal Muscular Atrophy Foundation
Information provided by (Responsible Party):
Columbia University

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.

Condition or disease
Spinal Muscular Atrophy

Detailed Description:

Spinal Muscular Atrophy (SMA) is one of the most devastating neurological diseases of childhood. Affected infants and children suffer from progressive muscle weakness caused by degeneration of lower motor neurons in the spinal cord and brainstem. Clinically, four phenotypes are distinguished within the continuous spectrum of disease severity based on the age of onset and the highest motor milestone ever achieved. SMA is caused by homozygous deletion of the survival motor neuron-1 (SMN1) gene. A related gene, SMN2, produces low levels of full-length SMN protein due to inefficient splicing. There is an inverse correlation between SMN copy number and disease severity, presumably mediated by levels of full length SMN protein. Therefore, increasing the amount of full-length SMN protein is a promising treatment strategy. Several drugs targeting splicing efficiency have resulted in increased SMN protein in preclinical assays and are now awaiting clinical testing.

With the future objective to conduct clinical trials in SMA, the proposed project has 3 specific aims: 1) To establish a web-based database that will serve to enroll the patient population and that will facilitate timely recruitment for future clinical trials; (2) to plan for clinical trials by a) developing reliable outcome measures, and (b) establishing the infrastructure needed to carry out efficient clinical trials, (c) convening meetings of preclinical and clinical researchers involved in SMA drug development to select candidate drugs, and (3) to characterize the patient population from a clinical and molecular point of view.

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Study Type : Observational
Actual Enrollment : 120 participants
Observational Model: Case-Only
Time Perspective: Prospective
Official Title: Clinical Study of Spinal Muscular Atrophy
Study Start Date : May 2005
Actual Primary Completion Date : August 17, 2011
Actual Study Completion Date : August 17, 2011

Primary Outcome Measures :
  1. Hammersmith Functional Motor Scale Expanded (HFMSE) [ Time Frame: Up to 36 months ]
    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.

  2. Gross Motor Function Scale (GMFM) [ Time Frame: Up to 36 months ]
    The GMFM contains 88 items in 5 dimensions: (A) lying and rolling, (B) sitting, (C) crawling, (D) standing, and (E) walking.

Biospecimen Retention:   Samples With DNA
blood and skin tissue

Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
People diagnosed with Spinal Muscular Atrophy types I, II, or III before the age of 17.

Inclusion Criteria

  • 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

Exclusion Criteria:

  • 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)

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00443066

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United States, New York
Columbia University SMA Clinical Research Center
New York, New York, United States, 10032
Sponsors and Collaborators
Columbia University
The Spinal Muscular Atrophy Foundation
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Principal Investigator: Darryl C De Vivo, MD Columbia University
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Responsible Party: Columbia University
ClinicalTrials.gov Identifier: NCT00443066    
Other Study ID Numbers: AAAB1635
CU52029001 ( Other Identifier: SMA )
First Posted: March 5, 2007    Key Record Dates
Last Update Posted: March 21, 2023
Last Verified: March 2023
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No
Keywords provided by Columbia University:
neuromuscular disease
Additional relevant MeSH terms:
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Muscular Atrophy
Muscular Atrophy, Spinal
Pathological Conditions, Anatomical
Neuromuscular Manifestations
Neurologic Manifestations
Nervous System Diseases
Spinal Cord Diseases
Central Nervous System Diseases
Motor Neuron Disease
Neurodegenerative Diseases
Neuromuscular Diseases