Clinical trials: Genetic Screening
Down Syndrome
An Online Health Tool About Down Syndrome: Down Syndrome Clinic to You
The investigators conducted a national two-arm, randomized controlled trial of caregivers of individuals with DS to assess the efficacy of DSC2U in assuring adherence to evidence-based guidelines.
- Trial name
- DSC2U (NCT04227197)
- Testing
- Down Syndrome Clinic to You (DSC2U)
- Where
- United States
- Volunteers
- 281 people, healthy volunteers welcome
- Sponsor
- Massachusetts General Hospital
Osteogenesis Imperfecta
Multicenter,Single-arm Study to Evaluate Efficacy, Safety, & Pharmacokinetics of Denosumab in Children w/ OI
This is a prospective, multicenter, single-arm study in children 2 to 17 years of age with OI to evaluate efficacy and safety of denosumab.
- Trial name
- OI (NCT02352753)
- Testing
- Denosumab
- Where
- 49 sites in United States, Australia and 11 more
- Volunteers
- 153 people
- Sponsor
- Amgen
Sickle Cell Trait
Increasing Documentation and Disclosure of Sickle Cell Trait Status: An Implementation Science Approach
The hemoglobinopathy newborn screen (NBS) performed on all neonates in the U.S. allows for early life-saving medical care for infants with sickle cell disease (SCD), an autosomal recessive genetic disorder.
- Trial name
- NCT05387564
- Testing
- SCT Documentation and Disclosure Toolkit (SCT-DD)
- Where
- United States
- Volunteers
- 114 people
- Sponsor
- Nemours Children's Clinic
Metabolism, Inborn Errors, Hearing Loss
North Carolina Newborn Exome Sequencing for Universal Screening
The NC NEXUS research study is exploring the utility of next generation sequencing in newborn screening and parental decision making.
- Conditions
- Metabolism, Inborn Errors, Hearing Loss, Hereditary Disease
- Trial name
- NC_NEXUS (NCT02826694)
- Testing
- Well infant, whole exome sequencing, Diagnosed, whole exome sequencing
- Where
- United States
- Volunteers
- 106 people, healthy volunteers welcome
- Sponsor
- University of North Carolina, Chapel Hill
Atopic Dermatitis, Ichthyosis Vulgaris
Genetic Screening for Filaggrin Mutation in Atopic Dermatitis and Ichthyosis Vulgaris in the African American Population
The investigators' primary objective is to identify common and rare mutations in the filaggrin gene in African American patients with a diagnosis of atopic dermatitis and ichthyosis vulgaris.
- Trial name
- NCT01016106
- Testing
- Buccal Swab
- Where
- 2 sites in United States
- Volunteers
- 35 people, healthy volunteers welcome
- Sponsor
- Northwestern University
Advanced Malignant Solid Neoplasm, Ann Arbor Stage III Non-Hodgkin Lymphoma
Targeted Therapy Directed by Genetic Testing in Treating Pediatric Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphomas, or Histiocytic Disorders (The Pediatric MATCH Screening Trial)
This phase II Pediatric MATCH screening and multi-sub-trial studies how well treatment that is directed by genetic testing works in pediatric patients with solid tumors, non-Hodgkin lymphomas, or histiocytic disorders that have…
- Conditions
- Advanced Malignant Solid Neoplasm, Ann Arbor Stage III Non-Hodgkin Lymphoma, Ann Arbor Stage IV Non-Hodgkin Lymphoma, Histiocytic Sarcoma
- Trial name
- NCT03155620
- Testing
- Biopsy Procedure, Biospecimen Collection, Bone Marrow Aspiration and Biopsy
- Where
- 172 sites in United States, Australia and 2 more
- Volunteers
- 1,377 people
- Sponsor
- National Cancer Institute (NCI)
Sickle Cell Disease, Depression
Designing an Implementation Strategy for Delivering Routine Mental Health Screening and Treatment
African Americans living with chronic health conditions are more likely to experience depression and other mental health disorders than their healthy counterparts, and are more likely to experience severe depression than whites…
- Conditions
- Sickle Cell Disease, Depression, Anxiety
- Trial name
- NCT04587661
- Testing
- off-the-shelf digital CBT, adapted digital CBT
- Where
- United States
- Volunteers
- 21 people
- Sponsor
- University of Pittsburgh
Hereditary Disease, Genetic Predisposition to Disease
Genomic Sequencing for Childhood Risk and Newborn Illness
The Genomic Sequencing for Childhood Risk and Newborn Illness (the BabySeq Project) is a research study exploring the use of genomic sequencing in newborns. The National Institutes of Health is funding this study.
- Trial name
- NCT02422511
- Testing
- Genomic sequencing, Family history report
- Where
- 2 sites in United States
- Volunteers
- 1,205 people
- Sponsor
- Brigham and Women's Hospital
Sickle Cell Anemia
Carbon Monoxide Measurement to Screen for Sickle Cell Disease
Modify the design of the CoSense device (Model C20112, currently cleared by the FDA for ETCO (end-tidal carbon monoxide) monitoring to improve accuracy and consistency under temperature conditions encountered in countries with…
- Trial name
- SCDCO (NCT02530242)
- Testing
- End-tidal Carbon Monoxide Subjects, End-tidal Carbon Monoxide Controls
- Volunteers
- 32 people
- Sponsor
- UCSF Benioff Children's Hospital Oakland
Familial Hyperlipidemia
Familial Hyperlipidemia Family Registry
If a child from the Healthy Hearts and Minds education and screening program is found to have a genetic marker for familial hyperlipidemia (FH), immediate family members are offered genetic testing at no charge to identify those…
- Trial name
- NCT05814419
- Where
- United States
- Volunteers
- 11 people
- Sponsor
- Poudre Valley Health System
Hunter Syndrome
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®
This study is being conducted to identify pediatric patients with Hunter syndrome who have neurodevelopmental disease characteristics, who are currently receiving treatment with Elaprase, and who may be suitable to participate in…
- Trial name
- NCT00937794
- Testing
- Neurobehavioral testing, Visual and auditory assessments
- Where
- 2 sites in United States, United Kingdom
- Volunteers
- 33 people
- Sponsor
- Shire
Hypercholesterolemia, Hypercholesterolemia, Familial
Evaluating the Efficacy of Pediatric Lipid Screening Alerts
The purpose of the study is to evaluate prospectively the impact of different system alerts on the prescription of lipid panels to pediatric Geisinger patients (9-11 years old), as per the now-universal guidelines.
- Conditions
- Hypercholesterolemia, Hypercholesterolemia, Familial, Hypercholesteremia in Children, Hyperlipidemia in Children
- Trial name
- NCT04118348
- Testing
- Best Practice Alert, Health Maintenance Topic
- Where
- United States
- Volunteers
- 13,340 people
- Sponsor
- Geisinger Clinic