Study Name: Development of neurofilament as a biomarker of fetal spinal muscular atrophy

Principal Investigator: Caitlin Baptiste, MD, Columbia University Irving Medical Center, cb2670@cumc.columbia.edu

Collaborating Investigator(s) Sought: No

Patients Sought: We are investigating fetal spinal muscular atrophy (SMA). Our aim is to develop a fetal biomarker for SMA disease activity to better understand the prenatal disease phenotype.

Subjects must be carrying a fetus with homozygous gene deletion of SMN1 and <4 copies of SMN2. We will measure neurofilament concentrations, an established biomarker of disease activity, to study the progression of SMA in utero. We will evaluate neurofilament concentrations in the maternal serum, maternal urine, amniotic fluid, and fetal cord blood. Specimens will be collected during routine prenatal lab work and at the time of delivery. No additional procedures or visits will be required of subjects.

Additional Information: This study aims to improve our understanding of fetal SMA as an early step toward evaluating in utero therapy for this condition. There is no direct benefit to participants and we will not be offering in utero gene therapy as a part of this study.

Funding: Departmental funding through the division of maternal fetal medicine