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Conditions: Sickle Cell Disease, Depression, Anxiety
Interventions: off-the-shelf digital CBT, adapted digital CBT; Behavioral
Lead sponsor: University of Pittsburgh; Other
Eligibility: 16 Years to 35 Years
Enrollment: 21 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2020 – 2023
U.S. locations: 1
States / cities: Pittsburgh, Pennsylvania

Conditions: Duchenne Muscular Dystrophy (DMD)
Interventions: Not listed
Lead sponsor: University of Rochester; Other
Eligibility: 0 Days to 3 Years · Male only
Enrollment: 105 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2026 – 2029
U.S. locations: 4
States / cities: Rochester, New York • Stony Brook, New York • Cincinnati, Ohio + 1 more

Conditions: Von Willebrands Disease
Interventions: Not listed
Lead sponsor: Jonathan Roberts; Other
Eligibility: 2 Years and older
Enrollment: 134 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2015 – 2022
U.S. locations: 1
States / cities: Peoria, Illinois

Conditions: Primary Immune Deficiency
Interventions: Not listed
Lead sponsor: National Institute of Allergy and Infectious Diseases (NIAID); NIH
Eligibility: 1 Month to 100 Years
Enrollment: 5,000 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: Started 2007
U.S. locations: 2
States / cities: Bethesda, Maryland • Ann Arbor, Michigan

Conditions: Prostate Cancer
Interventions: Precision screening intervention, Usual care; Genetic · Other
Lead sponsor: VA Office of Research and Development; Federal
Eligibility: 55 Years to 69 Years · Male only
Enrollment: 5,000 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2024 – 2030
U.S. locations: 1
States / cities: Boston, Massachusetts

Conditions: Peripheral Artery Disease, Coronary Disease, Diabetes and Heart Failure, Dilated Cardiomyopathy, Heart Failure, Renal Artery Stenosis, Pulmonary Hypertension
Interventions: Not listed
Lead sponsor: National Heart, Lung, and Blood Institute (NHLBI); NIH
Eligibility: Not listed
Healthy volunteers: Healthy volunteers not accepted
Timeline: 1992 – 2009
U.S. locations: 2
States / cities: Bethesda, Maryland

Conditions: Breast Cancer, Colorectal Cancer
Interventions: Genetic Testing and Counseling, Screening Form; Behavioral
Lead sponsor: M.D. Anderson Cancer Center; Other
Eligibility: 18 Years and older
Enrollment: 1,000 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2022 – 2027
U.S. locations: 1
States / cities: Houston, Texas

Conditions: Sickle Cell Trait
Interventions: Education; Other
Lead sponsor: Susan Creary; Other
Eligibility: 18 Years and older
Enrollment: 74 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2019 – 2022
U.S. locations: 1
States / cities: Columbus, Ohio

Conditions: Von Willebrand Disease (VWD), Von Willebrand Disease (VWD), Type 1, Von Willebrand Disease (VWD), Type 2, Von Willebrand Disease (VWD), Type 3, Von Willebrand Disease, Type 2A, Von Willebrand Disease, Type 2M, Von Willebrand Disease, Type 2N
Interventions: Clinical outcomes of patients with VWD, Type 1, Clinical outcomes of patients with VWD, Type 2A, Type 2M, Type 2N, or Type 3; Other
Lead sponsor: Hemab ApS; Industry
Eligibility: 16 Years and older
Enrollment: 200 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2024 – 2026
U.S. locations: 13
States / cities: Phoenix, Arizona • Little Rock, Arkansas • Los Angeles, California + 10 more

Conditions: Long QT Syndrome
Interventions: QTScreen ECG Recorder; Device
Lead sponsor: QT Medical, Inc.; Other
Eligibility: 2 Weeks to 4 Weeks
Enrollment: 4,000 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2015 – 2017
U.S. locations: 3
States / cities: Lynwood, California • Torrance, California

Conditions: Osteogenesis Imperfecta
Interventions: Denosumab; Drug
Lead sponsor: Amgen; Industry
Eligibility: 2 Years to 17 Years
Enrollment: 153 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2015 – 2022
U.S. locations: 13
States / cities: Los Angeles, California • Torrance, California • Aurora, Colorado + 10 more

Conditions: 22q11 Deletion Syndrome, DiGeorge Syndrome, Trisomy 21, Trisomy 18, Trisomy 13, Monosomy X, Sex Chromosome Abnormalities, Cri-du-Chat Syndrome, Angelman Syndrome, Prader-Willi Syndrome, 1p36 Deletion Syndrome
Interventions: Not listed
Lead sponsor: Natera, Inc.; Industry
Eligibility: 18 Years to 48 Years · Female only
Enrollment: 20,960 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2015 – 2020
U.S. locations: 16
States / cities: San Francisco, California • Camden, New Jersey • Mount Laurel, New Jersey + 10 more

Conditions: Hunter Syndrome
Interventions: Neurobehavioral testing, Visual and auditory assessments; Behavioral · Other
Lead sponsor: Shire; Industry
Eligibility: 32 Months to 18 Years · Male only
Enrollment: 33 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2009 – 2011
U.S. locations: 1
States / cities: Chapel Hill, North Carolina

Conditions: Down Syndrome, Trisomy 18, Trisomy 13
Interventions: SmartNIPT; Other
Lead sponsor: Women and Infants Hospital of Rhode Island; Other
Eligibility: 18 Years and older · Female only
Enrollment: 2,443 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2017 – 2020
U.S. locations: 13
States / cities: Los Angeles, California • Aurora, Colorado • Bridgeport, Connecticut + 9 more

Conditions: Genetic Disease
Interventions: BeginNGS Test; Genetic
Lead sponsor: Rady Pediatric Genomics & Systems Medicine Institute; Other
Eligibility: 1 Day to 28 Days
Enrollment: 10,000 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2024 – 2029
U.S. locations: 1
States / cities: San Diego, California

Conditions: Sickle Cell Disease
Interventions: Brigance Preschool Screen -II; Other
Lead sponsor: St. Jude Children's Research Hospital; Other
Eligibility: 3 Years to 4 Years
Enrollment: 248 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2010 – 2015
U.S. locations: 1
States / cities: Memphis, Tennessee

Conditions: Colon Cancer, Lynch Syndrome
Interventions: MSI screening test; Procedure
Lead sponsor: Kaiser Permanente; Other
Eligibility: 18 Years and older
Enrollment: 247 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2012 – 2016
U.S. locations: 1
States / cities: Portland, Oregon

Conditions: Bone Marrow Transplant, Sickle Cell Disease, G-CSF
Interventions: Not listed
Lead sponsor: National Heart, Lung, and Blood Institute (NHLBI); NIH
Eligibility: Not listed
Enrollment: 816 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2008 – 2021
U.S. locations: 1
States / cities: Bethesda, Maryland

Conditions: Hypercholesterolemia, Familial
Interventions: Not listed
Lead sponsor: University of Pennsylvania; Other
Eligibility: 18 Years and older
Enrollment: 21 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2016 – 2019
U.S. locations: 1
States / cities: Philadelphia, Pennsylvania

Conditions: Aneuploidy, Down Syndrome, Noninvasive Prenatal Screening
Interventions: SEQureDx Trisomy Test; Device
Lead sponsor: Sequenom, Inc.; Industry
Eligibility: 18 Years to 34 Years · Female only
Enrollment: 3,333 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2012 – 2015
U.S. locations: 27
States / cities: Mobile, Alabama • Chandler, Arizona • Phoenix, Arizona + 22 more

Conditions: Li-Fraumeni Syndrome
Interventions: Whole Body MRI; Device
Lead sponsor: Dana-Farber Cancer Institute; Other
Eligibility: Not listed
Enrollment: 150 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2012 – 2027
U.S. locations: 3
States / cities: Boston, Massachusetts • New York, New York • Philadelphia, Pennsylvania

Conditions: Lynch Syndrome
Interventions: questionnaires, telephone interview, optional blood drawn, questionnaires, telephone interview and optional blood drawn; Behavioral
Lead sponsor: Memorial Sloan Kettering Cancer Center; Other
Eligibility: 18 Years and older
Enrollment: 1,530 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2004 – 2026
U.S. locations: 8
States / cities: Basking Ridge, New Jersey • Middletown, New Jersey • Montvale, New Jersey + 5 more

Conditions: Ewing Sarcoma, Osteosarcoma, Neuroblastoma, Acute Lymphoblastic Leukemia, Neurofibromatosis Type 1
Interventions: Not listed
Lead sponsor: National Cancer Institute (NCI); NIH
Eligibility: Up to 35 Years
Enrollment: 1,720 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2001 – 2020
U.S. locations: 1
States / cities: Bethesda, Maryland

Conditions: Diabetes Mellitus
Interventions: genetic testing for type 2 diabetes, Conventional risk counseling, eye disease counseling; Genetic · Behavioral
Lead sponsor: US Department of Veterans Affairs; Federal
Eligibility: 21 Years to 65 Years
Enrollment: 601 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2010 – 2013
U.S. locations: 1
States / cities: Durham, North Carolina

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Designing an Implementation Strategy for Delivering Routine Mental Health Screening and Treatment

The Baby Duchenne Study: Characterizing Developmental and Clinical Outcomes in the First Three Years in Children With Duchenne Muscular Dystrophy

Investigating a Von Willebrand Factor (VWF) Functional Screening Assay for Assigning the Phenotypic Variants of Von Willebrand Disease (VWD)

Screening Protocol for Genetic Diseases of Lymphocyte Homeostasis and Programmed Cell Death

The Prostate Cancer, Genetic Risk, and Equitable Screening Study (ProGRESS)

Evaluation of Patients With Known or Suspected Heart Disease

Connecting Black Families in Houston, Texas to Hereditary Cancer Genetic Counseling, Genetic Testing, and Cascade Testing by Using a Simple Genetic Risk Screening Tool and Telegenetics

A Program to Increase Sickle Cell Trait Knowledge Among Parent of Young Children Identified in Newborn Screening

A Study of Bleeding and Treatment in Participants With Von Willebrand Disease

Long QT Syndrome Screening in Newborns

Multicenter,Single-arm Study to Evaluate Efficacy, Safety, & Pharmacokinetics of Denosumab in Children w/ OI

SNP-based Microdeletion and Aneuploidy RegisTry (SMART)

Screening Study to Identify Pediatric Patients With Hunter Syndrome Who Demonstrate Evidence of Central Nervous System (CNS) Involvement and Who Are Currently Receiving Treatment With Elaprase®

VAlidation of a Lower Cost aneUploidy scrEen

An Adaptive Clinical Trial of BeginNGS Newborn Screening for Hundreds of Genetic Diseases by Genome Sequencing

The Brigance Assessment Of Individual Neurodevelopment In Young Children With Sickle Cell Disease- 2

Integrating Genetic Testing for Lynch Syndrome in a Managed Care Setting

Screening for Subjects to Participate in Studies of Blood Disorders

Screening Protocol for a Gene Therapy Trial in Subjects With Homozygous Familial Hypercholesterolemia

Clinical Evaluation of the SEQureDx Trisomy Test in Low Risk Pregnancies

Screening With Whole Body MRI For Detection Of Primary Tumors In Children And Adults With Li-Fraumeni Syndrome (LFS) And Other Cancer Predisposition Syndromes

Multi-Organ Screening Recommendations in Patients With Lynch Syndrome

Eligibility Screening for a NCI Pediatric Oncology Branch Research Study

Genetic Testing for Type 2 Diabetes