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

Study ID
STU 092012-068

Cancer Related
No

Healthy Volunteers
Yes

Study Sites

Contact
Christie Andersen
214-456-5489
mariam.andersen@utsouthwestern.edu

Principal Investigator
Diana Castro

Summary

Spinal muscular atrophy (SMa) is the leading genetic cause of death of infants. Strong preclini-cal 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 surro-gate biomarkers of disease progression that will facilitate the execution of therapeutic SMa clin-ical trials in infants.

Participant Eligibility

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 per-formed.
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