Fabry Disease Clinical Trial
— ScreenPlusOfficial title:
ScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening Program
Verified date | June 2024 |
Source | Albert Einstein College of Medicine |
Contact | n/a |
Is FDA regulated | No |
Health authority | |
Study type | Observational |
ScreenPlus is a consented, multi-disorder pilot newborn screening program implemented in conjunction with the New York State Newborn Screening Program that provides families the option to have their newborn(s) screened for a panel of additional conditions. The study has three primary objectives: 1) define the analytic and clinical validity of multi-tiered screening assays for a flexible panel of disorders, 2) determine disease incidence in an ethnically diverse population, and 3) assess the impact of early diagnosis on health outcomes. Over a five-year period, ScreenPlus aims to screen 175,000 infants born in nine high birthrate, ethnically diverse pilot hospitals in New York for a flexible panel of 14 rare genetic disorders. This study will also involve an evaluation of the Ethical, Legal and Social issues pertaining to NBS for complex disorders, which will be done via online surveys that will be directed towards ScreenPlus parents who opt to participate and qualitative interviews with families of infants who are identified through ScreenPlus.
Status | Enrolling by invitation |
Enrollment | 175000 |
Est. completion date | July 31, 2026 |
Est. primary completion date | July 31, 2024 |
Accepts healthy volunteers | Accepts Healthy Volunteers |
Gender | All |
Age group | N/A to 4 Weeks |
Eligibility | Inclusion Criteria: - All newborn infants born at a ScreenPlus pilot hospital - Infants who are less than four weeks old, regardless of sex, gestational age, or health status. Exclusion Criteria: - A newborn screening sample is unavailable - Infants who are more than four weeks old |
Country | Name | City | State |
---|---|---|---|
United States | Jack D. Weiler Hospital | Bronx | New York |
United States | ScreenPlus Coordinating Core, Children's Hospital at Montefiore | Bronx | New York |
United States | Maimonides Medical Center | Brooklyn | New York |
United States | NYU Langone Hospital - Brooklyn | Brooklyn | New York |
United States | North Shore University Hospital | Manhasset | New York |
United States | Mount Sinai Hospital | New York | New York |
United States | Mount Sinai West | New York | New York |
United States | NYU Langone Health - Tisch Hospital | New York | New York |
United States | Long Island Jewish Medical Center | Queens | New York |
Lead Sponsor | Collaborator |
---|---|
Albert Einstein College of Medicine | Alexion, AstraZeneca Rare Disease, Ara Parseghian Medical Research Fund, BioMarin Pharmaceutical, Cure Sanfilippo Foundation, Dana's Angels Research Trust, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), Genzyme, a Sanofi Company, Orchard Therapeutics, Passage Bio, Inc., Sio Gene Therapies, Takeda, The FireFly Fund, The Noah's Hope - Hope 4 Bridget Family Foundations, Travere Therapeutics, Inc., Ultragenyx Pharmaceutical Inc |
United States,
Calonge N, Green NS, Rinaldo P, Lloyd-Puryear M, Dougherty D, Boyle C, Watson M, Trotter T, Terry SF, Howell RR; Advisory Committee on Heritable Disorders in Newborns and Children. Committee report: Method for evaluating conditions nominated for population-based screening of newborns and children. Genet Med. 2010 Mar;12(3):153-9. doi: 10.1097/GIM.0b013e3181d2af04. — View Citation
Wasserstein MP, Caggana M, Bailey SM, Desnick RJ, Edelmann L, Estrella L, Holzman I, Kelly NR, Kornreich R, Kupchik SG, Martin M, Nafday SM, Wasserman R, Yang A, Yu C, Orsini JJ. The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants. Genet Med. 2019 Mar;21(3):631-640. doi: 10.1038/s41436-018-0129-y. Epub 2018 Aug 10. — View Citation
Type | Measure | Description | Time frame | Safety issue |
---|---|---|---|---|
Primary | Evaluate the accuracy of the screening assays. | Accuracy of the screening assay will be defined in terms of positive predictive value (proportion of confirmed cases comparative to the total number of infants who screened positive). | Through study completion up to 5 years. | |
Primary | Define disease incidence in an ethnically diverse population. | Disease incidence will be calculated as the proportion of infants with a disorder comparative to the total population of infants screened. | Through study completion up to 5 years. |
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