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Examining Genetic Factors That Affect the Severity of 22q11.2 Deletion Syndrome

StatusRecruiting
PhaseNot specified
Started
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Record History

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  1. Minor Collaborators: 13 to 14v14
  2. Minor Study sites: 2 to 1
    • Study completion date: Jul 2029 to Jun 2029
    • Study description expanded, about 18 words
    • Collaborators: 1 to 13
    v13
  3. Minor Re-verified, no change to tracked fieldsv12
  4. Notable Primary completion date: Jun 6, 2027 to Jun 2029
    • Study completion date: Jul 2027 to Jul 2029
    v11
  5. Notable Primary completion date: Jun 6, 2022 to Jun 6, 2027
    • Study completion date: Jul 2025 to Jul 2027
    v10
Show 8 earlier versionsHide 8 earlier versions
  1. Notable Primary completion date: Jul 2025 to Jun 6, 2022v9
  2. Notable Trial status: Active, Not Recruiting to Recruiting
    • Primary and study completion dates: Jul 2020 to Jul 2025
    • Site details revised at 2 of 2 sites
    v8
  3. Minor 2 versions Re-verified since Aug 29, 2018, no change to tracked fieldsv6-v7
  4. Notable Lead sponsor: National Heart, Lung, and Blood Institute (NHLBI) to Albert Einstein College of Medicinev5 Show 6 more changesShow less
    • Start date: Aug 2000 to Jul 2016
    • Trial status: Recruiting to Active, Not Recruiting
    • Primary completion date: Jul 2020
    • Study completion date: Jan 2011 to Jul 2020
    • Site details revised at 2 of 2 sites
    • Collaborators expanded, about 7 words
  5. Minor 3 versions Re-verified since Aug 8, 2008, no change to tracked fieldsv2-v4
  1. Minor Study First Submitted
  • Stopped: an ongoing trial was terminated, suspended or withdrawn.
  • Notable: the trial’s plan changed such as a big move in its timeline or size, a new primary endpoint, sponsor or phase, or recruiting opened or resumed.
  • Minor: routine progress and housekeeping, such as sites added or enrollment closed.
22q11.2 deletion syndrome is a genetic disorder that can cause heart defects, facial abnormalities, and developmental and learning disabilities. The severity of the disorder can vary widely among people. This study will analyze DNA from people with 22q11.2 deletion syndrome to identify genetic variations that may affect the severity of the disorder.
Trial Details
NCT Number NCT00556530
Lead Sponsor Albert Einstein College of Medicine
Collaborators: National Heart, Lung, and Blood Institute (NHLBI), Children's Hospital of Philadelphia, University of Geneva, Switzerland, University of Toronto, Bambino Gesù Children's Hospital IRCCS, University of California, Los Angeles, Cardiff University, Universidad del Desarrollo, Tel Aviv University, KU Leuven, Maastricht University, The Coriell Institute, National Institute on Aging (NIA), Center for Inherited Disease Research (CIDR)
Conditions
(from sponsor)
DiGeorge Syndrome, 22q11.2 Deletion Syndrome
Related terms DiGeorge Syndrome, Heart Defects, Congenital
Enrollment 1,000 participants
Start Date
Primary Completion (estimated)
Study Completion (estimated)
Updated on ClinicalTrials.gov