deltatrials
Enrolling By Invitation OBSERVATIONAL NCT05368038

ScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening Program (ScreenPlus)

Sponsor: Albert Einstein College of Medicine

Conditions Acid Sphingomyelinase Deficiency Cerebrotendinous Xanthomatosis Ceroid Lipofuscinosis, Neuronal, 2 Fabry Disease GM1 Gangliosidosis Gaucher Disease Lysosomal Acid Lipase Deficiency Metachromatic Leukodystrophy Mucopolysaccharidosis II Mucopolysaccharidosis III-B Mucopolysaccharidosis IV A Mucopolysaccharidosis VI Mucopolysaccharidosis VII Niemann-Pick Disease, Type C
Interventions Confirmatory Testing
Updated 7 times since 2022 Last updated: Sep 11, 2025 Started: May 10, 2021 Primary completion: Aug 31, 2029 Completion: Aug 31, 2029
This information is for research purposes only and is not medical advice. Consult a healthcare provider before making any medical decision.

This observational or N/A phase trial investigates Acid Sphingomyelinase Deficiency and Cerebrotendinous Xanthomatosis and is currently ongoing. Albert Einstein College of Medicine leads this study, which shows 7 recorded versions since 2021 — indicating limited longitudinal coverage. The change history captured here reflects the iterative nature of clinical trial conduct.

Status Flow

~Jun 2022 – ~Jul 2023 · 13 months · monthly snapshotEnrolling By Invitation~Jul 2023 – ~Jul 2024 · 12 months · monthly snapshotEnrolling By Invitation~Jul 2024 – ~Sep 2024 · 2 months · monthly snapshotEnrolling By Invitation~Sep 2024 – ~Oct 2024 · 30 days · monthly snapshotEnrolling By Invitation~Oct 2024 – ~Sep 2025 · 11 months · monthly snapshotEnrolling By Invitation~Sep 2025 – ~Oct 2025 · 30 days · monthly snapshotEnrolling By Invitation~Oct 2025 – present · 9 months · monthly snapshotEnrolling By Invitation

Change History

7 versions recorded

  1. Oct 2025 — Present [monthly]

    Enrolling By Invitation

  2. Sep 2025 — Oct 2025 [monthly]

    Enrolling By Invitation

  3. Oct 2024 — Sep 2025 [monthly]

    Enrolling By Invitation

  4. Sep 2024 — Oct 2024 [monthly]

    Enrolling By Invitation

  5. Jul 2024 — Sep 2024 [monthly]

    Enrolling By Invitation

▶ Show 2 earlier versions

  1. Jul 2023 — Jul 2024 [monthly]

    Enrolling By Invitation

  2. Jun 2022 — Jul 2023 [monthly]

    Enrolling By Invitation

    First recorded

May 2021

Trial started

Per CT.gov start date — pre-dates our first snapshot

Eligibility Summary

No eligibility information available.

Contact Information

Sponsor contact:
  • Albert Einstein College of Medicine
  • Alexion Pharmaceuticals, Inc.
  • Ara Parseghian Medical Research Fund
  • BioMarin Pharmaceutical
  • Case Western Reserve University
  • Cure Sanfilippo Foundation
  • Dana's Angels Research Trust (DART)
  • Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
  • Genzyme, a Sanofi Company
  • Mirum Pharmaceuticals, Inc.
  • New York State Department of Health
  • Orchard Therapeutics
  • Passage Bio, Inc.
  • Sio Gene Therapies
  • Takeda Pharmaceuticals North America, Inc.
  • The FireFly Fund
  • The Noah's Hope - Hope 4 Bridget Family Foundations
  • Travere Therapeutics, Inc.
  • Ultragenyx Pharmaceutical Inc
Data source: Albert Einstein College of Medicine

For direct contact, visit the study record on ClinicalTrials.gov .

Study Locations