A Pilot Study of Biomarkers for Spinal Muscular Atrophy
NCT ID: NCT00756821
Last Updated: 2012-10-24
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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COMPLETED
130 participants
OBSERVATIONAL
2008-10-31
2009-03-31
Brief Summary
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Detailed Description
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Although SMA is a relatively common orphan disease, recruitment of patients for the number of candidate therapies is expected to become rate-limiting for the development of therapeutics.
STUDY OBJECTIVES
Primary:
* To identify candidate blood and urine biochemical markers that correlate with disease severity as determined by the Modified Hammersmith Functional Motor Scale across a range of type I, type II and type III children with Spinal Muscular Atrophy (SMA) (1).
Secondary:
* To determine if there are biomarkers from types I-III SMA patients that correlate with SMA type, age at disease onset, 10-meter Timed Walk Test (ambulatory subjects only), pulmonary function, nutritional assessment, SMN protein level, SMN transcript level or SMN2 copy number.
* To determine if identified candidate biomarkers are associated with the disease state through comparison of SMA specimens with control volunteer specimens.
* To determine if there are potential biochemical pathways that may represent targets for therapeutic intervention in SMA.
Conditions
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Keywords
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Study Design
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COHORT
CROSS_SECTIONAL
Study Groups
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SMA cohort
Subjects between the ages of 2-12 years diagnosed with SMA Type I, II, or III.
No interventions assigned to this group
Control cohort
Healthy children between the ages of 2-12 years. These children may be either genetically-related siblings of SMA children (genetically confirmed non-carriers of SMA),or unrelated children.
No interventions assigned to this group
Eligibility Criteria
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Inclusion Criteria
* In good health (other than SMA) in the judgement of the clinical investigator ar the time of assessment
Exclusion Criteria
* Any known genetic condition other than SMA requiring pharmaceutical treatment
* Use of any putative SMN-enhancing medications or treatments in the past 14 days prior to enrollment
* Use of carnitine, creatine, oral albuterol or riluzole for 14 days prior to enrollment
* Use of any oral prescription medications for 14 days prior to enrollment (exceptions: anti-reflux medications, constipation or stoll softening medications, stool bulking agents, and inhaled bronchodilator medications)
* Any illness requiring treatment of antibiotics or anti-inflammatory medication within the past 14 days
* Any rash requiring treatment within the past 7 days
* Any severe asthma attack requiring treatment with oral or parenteral steroids within the past 7 days
* Any fever over 100 degrees Fahrenheit or 38 degree Celsius within the past 7 days
* Any immunization within the past 7 days
* Any injury sustained that resulted in a bone fracture or needed stitches within the past 7 days
* Any surgery within the past 7 days
* Any receipt of anesthesia within the past 7 days
* Any Emergency Room visit or hospitalization within the past 7 days
* Any stomach illness with vomiting within the past 7 days
* Any migraine headache within the past 7 days
* Participation in a clinical trial (except observational studies) within the past 7 days
2 Years
12 Years
ALL
Yes
Sponsors
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The Spinal Muscular Atrophy Foundation
OTHER
Carelon Research
OTHER
Responsible Party
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The Spinal Muscular Atrophy Foundation
Principal Investigators
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Richard Finkel, MD
Role: PRINCIPAL_INVESTIGATOR
Children's Hospital of Philadelphia
Thomas Crawford, MD
Role: PRINCIPAL_INVESTIGATOR
Johns Hopkins University
Petra Kaufmann, MD
Role: PRINCIPAL_INVESTIGATOR
Columbia University
Locations
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University of Alabama at Birmingham
Birmingham, Alabama, United States
Stanford University
Stanford, California, United States
The Children's Hospital
Aurora, Colorado, United States
University of Iowa
Iowa City, Iowa, United States
Johns Hopkins Hospital
Baltimore, Maryland, United States
Children's Hospital Boston
Boston, Massachusetts, United States
Children's Hospital of Michigan, Detroit
Detroit, Michigan, United States
Mayo Clinic Rochester
Rochester, Minnesota, United States
Washington University Medical School
St Louis, Missouri, United States
Columbia University SMA Clinical Research Center
New York, New York, United States
Cincinnati Children's Hospital Medical Center
Cincinnati, Ohio, United States
The Ohio State University
Columbus, Ohio, United States
The Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, United States
Children's Medical Center - Dallas
Dallas, Texas, United States
University of Utah
Salt Lake City, Utah, United States
University of Wisconsin Hospital and Clinics
Madison, Wisconsin, United States
Children's Hospital - London Health Sciences Center
London, Ontario, Canada
The Hospital for Sick Children
Toronto, Ontario, Canada
Countries
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References
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Finkel RS, Crawford TO, Swoboda KJ, Kaufmann P, Juhasz P, Li X, Guo Y, Li RH, Trachtenberg F, Forrest SJ, Kobayashi DT, Chen KS, Joyce CL, Plasterer T; Pilot Study of Biomarkers for Spinal Muscular Atrophy Trial Group. Candidate proteins, metabolites and transcripts in the Biomarkers for Spinal Muscular Atrophy (BforSMA) clinical study. PLoS One. 2012;7(4):e35462. doi: 10.1371/journal.pone.0035462. Epub 2012 Apr 27.
Crawford TO, Paushkin SV, Kobayashi DT, Forrest SJ, Joyce CL, Finkel RS, Kaufmann P, Swoboda KJ, Tiziano D, Lomastro R, Li RH, Trachtenberg FL, Plasterer T, Chen KS; Pilot Study of Biomarkers for Spinal Muscular Atrophy Trial Group. Evaluation of SMN protein, transcript, and copy number in the biomarkers for spinal muscular atrophy (BforSMA) clinical study. PLoS One. 2012;7(4):e33572. doi: 10.1371/journal.pone.0033572. Epub 2012 Apr 27.
Related Links
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The mission of the Spinal Muscular Atrophy Foundation is to accelerate the development of a treatment for SMA, the number one genetic killer of infants and toddlers.
Other Identifiers
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BforSMA
Identifier Type: -
Identifier Source: org_study_id