Spinal Muscular Atrophy (SMA) Biomarkers Study in the Immediate Postnatal Period of Development

Study Identifier:
NN101
ClinicalTrials.gov Identifier:
NCT01736553
EudraCT Identifier:
N/A
EU CT Number:
N/A
Sponsor:
Ohio State University
Study Complete

Study Details

Medical Condition
  • All Spinal Muscular Atrophies
Study Drug
    Date
    Dec 2012 - Sep 2015
    Patient Requirements
    Sex: Female & Male
    Age: N/A - 6 Months
    Requirements Information
    Inclusion and Exclusion Criteria
    Inclusion Criteria
    • All infants will be between 0-6 months of age at the time of enrollment. Parents or guardians of the enrolled infants must sign an informed consent form prior to any study procedure being performed.
    • The infants with SMA must have already had a positive DNA test outside of the study to qualify for enrollment. An infant with SMA can have any number of SMN2 gene copies. Knowledge of the number of SMN2 gene copies prior to enrollment is not required.
    • Healthy control infants who meet the following criteria will be enrolled:
    • Birth between 36 and 42 weeks inclusive of gestation
    • Siblings of children with SMA must have had prior SMA genetic testing completed con-firming the infant is a healthy control
    • Principal investigator feels the family/infant is able and willing to comply with study procedures
    • Parent or guardian able to give informed consent
    • SMA infants who meet the following criteria will be enrolled:
    • Birth between 36 and 42 weeks inclusive of gestation
    • Positive SMN1 gene mutation/deletion
    • Principal investigator feels the family/infant is able and willing to comply with study procedures
    • Parent or guardian able to give informed consent
    Exclusion Criteria
    • Use of any putative therapy intended to increase the amount of SMN protein in cells
    • Enrollment in an SMA therapeutic trial at the time of enrollment in the SMA biomarker study
    • Have a systemic illness requiring ongoing treatment, such as pneumonia
    • Clinically significant abnormal findings (as determined by the investigator) on the physical examination or medical history (including history of tracheostomy tubes and ventilator-dependency)
    • Dependency upon non-invasive ventilatory support (ie: BiPAP) for more than 12 hours/day

    Protocol Summary

    Spinal muscular atrophy (SMA) is the leading genetic cause of death of infants. Strong preclinical evidence suggests that effective therapy must be delivered as early as possible to prevent progression of the disease. The primary study objective will be to identify prognostic and surrogate biomarkers of disease progression that will facilitate the execution of therapeutic SMA clinical trials in infants.

    Trial Locations

    Location
    Status
    Location
    University of California - Davis
    Davis, California, United States, 95616
    Status
    N/A
    Location
    University of California - Los Angeles
    Los Angeles, California, United States, 90095
    Status
    N/A
    Location
    Children's Hospital Colorado
    Aurora, Colorado, United States, 80045
    Status
    N/A
    Location
    Children's National Medical Center
    Washington D.C., District of Columbia, United States, 20010
    Status
    N/A
    Location
    Ann & Robert H. Lurie Children's Hospital of Chicago
    Chicago, Illinois, United States, 60611
    Status
    N/A
    Location
    Boston Children's Hospital
    Boston, Massachusetts, United States, 02115
    Status
    N/A
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