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

Completed

Conditions studied: Spinal Muscular Atrophy (SMA)

In brief

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.

Key facts

Study ID

NCT01736553

Run by

Ohio State University

People needed

53

Starts

2012-12-01

Expected to finish

2015-09-01

Last updated by the study team

2018-05-04

Who can join

Age: any, up to 1. Sex: any. Healthy volunteers: accepted.

You may qualify if…

• 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

You may not qualify if…

• 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

Where it is running

• University of California - Davis — Davis, California, United States
• University of California - Los Angeles — Los Angeles, California, United States
• Children's Hospital Colorado — Aurora, Colorado, United States
• Children's National Medical Center — Washington D.C., District of Columbia, United States
• Ann & Robert H. Lurie Children's Hospital of Chicago — Chicago, Illinois, United States
• Boston Children's Hospital — Boston, Massachusetts, United States
• Children's Mercy Hospital — Kansas City, Missouri, United States
• Washington University in St. Louis School of Medicine — St Louis, Missouri, United States
• Columbia University Medical Center — New York, New York, United States
• State University of New York Upstate Medical Center — Syracuse, New York, United States
• Nationwide Children's Hospital — Columbus, Ohio, United States
• Doernbecher Children's Hospital — Portland, Oregon, United States
• Vanderbilt University — Nashville, Tennessee, United States
• Children's Medical Center of Dallas — Dallas, Texas, United States
• University of Utah Health Sciences Center — Salt Lake City, Utah, United States

Full record on ClinicalTrials.gov

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