Lysosomal Storage Diseases: A Pilot Newborn Screen and Examination of the Associated Ethical, Legal, & Social Issues
Our Research Program
Newborn screening allows rare diseases to be diagnosed and treated as early as possible. Recent improvements in technology enable us to screen newborns for more diseases than ever before. This study will allow us to evaluate how well newborn screening works for four lysosomal storage diseases, Fabry, Gaucher, Niemann-Pick A/B, and Mucopolysaccharidosis type I (MPS I) diseases.
Babies who are born at Mount Sinai Medical Center, Elmhurst Hospital Center, NYU Langone Medical Center, and Maimonides Medical Center, are being offered the opportunity to be screened for these lysosomal storage diseases as part of their routine New York State newborn screening test. Testing will be done at the NYS newborn screening lab using your baby’s routine screening sample.
If your baby’s additional screening test is positive for one of these four rare diseases, your doctor or a doctor from Mount Sinai will contact you to schedule an appointment to bring your baby to the Mount Sinai Medical Center to see doctors who specialize in diagnosing and treating patients with Fabry (International Center for Fabry Disease), Gaucher (Mount Sinai Comprehensive Gaucher Disease Treatment Center), Niemann-Pick A/B (International Center for Types A and B Niemann-Pick Disease ), and MPS I diseases.
Participating in this research study may benefit your newborn baby, and may also help medical researchers learn how to help babies in the future. There is no cost to you, and no extra blood is required for your baby to participate.
This study has been approved by the Icahn School of Medicine at Mount Sinai’s Institutional Review Board, is supported by the National Institutes of Health, and is being done in conjunction with the New York State Department of Health.
Pilot Newborn Screening Program
Principal Investigator, Dr. Melissa Wasserstein
One Gustave L. Levy Place
New York, NY 10029
Research Program Manager
Researchers at Mount Sinai, Elmhurst, Maimonides, and NYU Langone Medical Centers are working with the NYS Newborn Screening Program to offer an additional and optional newborn screen test for the four lysosomal storage disorders at no cost to parents. Watch video