TY - JOUR
T1 - Georgia state spinal muscular atrophy newborn screening experience
T2 - Screening assay performance and early clinical outcomes
AU - Elkins, Kathryn
AU - Wittenauer, Angela
AU - Hagar, Arthur F.
AU - Logan, Rachel
AU - Sekul, Elizabeth
AU - Xiang, Yijin
AU - Verma, Sumit
AU - Wilcox, William R.
N1 - Funding Information:
Funding for this project was generously provided by the Eunice Kennedy Shriver National Institute of Child Health and Human Development, contract HHSN275201500001I, task order 3.
Funding Information:
The Newborn Screening Follow Up Program at Emory University is made possible by the Georgia Department of Health through a contract managed by Emory University. We would like to acknowledge the advisory committee members who helped guide this project: Dr. Jill Jarecki and Dr. Jackie Glascock of CureSMA, Dr. Wendy Chung of Columbia University, Dr. Han Phan of University of Alabama, Birmingham, and the late Dr. Fred Lorey. We would also like to acknowledge Amanda Baggett, RN, and Diane Pelzek, RN of CHOA for their contributions. Finally, we thank the families of Georgia for their enduring support of newborn screening in our state.
Funding Information:
The Newborn Screening Follow Up Program at Emory University is made possible by the Georgia Department of Health through a contract managed by Emory University. We would like to acknowledge the advisory committee members who helped guide this project: Dr. Jill Jarecki and Dr. Jackie Glascock of CureSMA, Dr. Wendy Chung of Columbia University, Dr. Han Phan of University of Alabama, Birmingham, and the late Dr. Fred Lorey. We would also like to acknowledge Amanda Baggett, RN, and Diane Pelzek, RN of CHOA for their contributions. Finally, we thank the families of Georgia for their enduring support of newborn screening in our state.
Publisher Copyright:
© 2022 Wiley Periodicals LLC.
PY - 2022/6
Y1 - 2022/6
N2 - The purpose of this study is to provide the results of the newborn screening (NBS) program for Spinal Muscular Atrophy (SMA) in the state of Georgia to determine disease incidence, time to diagnosis and treatment, and early outcomes. NBS for SMA was performed using real time PCR assays from February 2019 through February 2020 in a pilot phase of screening. This method continued as part of our official state panel, and here we describe the pilot period as well as the first year of standard screening through February 2021. Medical records of infants with a positive NBS were reviewed for time to confirmation and neurologic evaluation, SMN2 copy number, clinical information, and treatment. Descriptive statistics were applied. Of the 301,418 samples screened, there were 15 true positive (eight males) and 24 false positive cases. One patient was missed due to human error early in the pilot phase and presented after symptom onset. The incidence of SMA in Georgia is approximately 1 in 18,840 births per year. After the pilot phase, the false positive rate was found to be so low that all patients who test positive were immediately referred to neurology for further care. Four patients died prior to intervention. Ten patients received intervention. Gene therapy was the preferred treatment. One patient was lost to follow-up; another was clinically followed. In conclusion, trends for treated patients show improved or stable motor function. Long-term follow-up will help determine the durability of treatment.
AB - The purpose of this study is to provide the results of the newborn screening (NBS) program for Spinal Muscular Atrophy (SMA) in the state of Georgia to determine disease incidence, time to diagnosis and treatment, and early outcomes. NBS for SMA was performed using real time PCR assays from February 2019 through February 2020 in a pilot phase of screening. This method continued as part of our official state panel, and here we describe the pilot period as well as the first year of standard screening through February 2021. Medical records of infants with a positive NBS were reviewed for time to confirmation and neurologic evaluation, SMN2 copy number, clinical information, and treatment. Descriptive statistics were applied. Of the 301,418 samples screened, there were 15 true positive (eight males) and 24 false positive cases. One patient was missed due to human error early in the pilot phase and presented after symptom onset. The incidence of SMA in Georgia is approximately 1 in 18,840 births per year. After the pilot phase, the false positive rate was found to be so low that all patients who test positive were immediately referred to neurology for further care. Four patients died prior to intervention. Ten patients received intervention. Gene therapy was the preferred treatment. One patient was lost to follow-up; another was clinically followed. In conclusion, trends for treated patients show improved or stable motor function. Long-term follow-up will help determine the durability of treatment.
KW - gene therapy
KW - newborn screening
KW - nusinersen
KW - spinal muscular atrophy
UR - http://www.scopus.com/inward/record.url?scp=85138674340&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85138674340&partnerID=8YFLogxK
U2 - 10.1002/ajmg.c.32003
DO - 10.1002/ajmg.c.32003
M3 - Article
C2 - 36164257
AN - SCOPUS:85138674340
SN - 1552-4868
VL - 190
SP - 187
EP - 196
JO - American Journal of Medical Genetics, Part C: Seminars in Medical Genetics
JF - American Journal of Medical Genetics, Part C: Seminars in Medical Genetics
IS - 2
ER -