Clinical trials: Genetic Testing
Hypertension, Chronic Kidney Disease
Genetic Testing to Understand and Address Renal Disease Disparities
In this genomic medicine implementation pilot project, the investigators aim to conduct a randomized trial in a network of community health centers and primary care facilities to study processes, effects and challenges of…
- Conditions
- Hypertension, Chronic Kidney Disease, Genomics
- Trial name
- GUARDD (NCT02234063)
- Testing
- Immediate Genetic Testing
- Where
- 2 sites in United States
- Volunteers
- 2,052 people, healthy volunteers welcome
- Sponsor
- Icahn School of Medicine at Mount Sinai
Kartagener Syndrome, Cystic Fibrosis
Rare Genetic Disorders of the Breathing Airways
Mucociliary clearance, in which mucus secretions are cleared from the breathing airways, is the primary defense mechanism for the lungs.
- Conditions
- Kartagener Syndrome, Cystic Fibrosis, Pseudohypoaldosteronism, Primary Ciliary Dyskinesia
- Trial name
- NCT00323167
- Where
- 9 sites in United States, Canada
- Volunteers
- 367 people
- Sponsor
- University of North Carolina, Chapel Hill
Lysosomal Acid Lipase Deficiency
Screening for Lysosomal Acid Lipase Deficiency
The primary outcome of this study is the development of a clinical profile of pediatric patients with LAL-D, which will enable the Sponsor to provide more focused guidance to the medical community as to which pediatric patients…
- Trial name
- NCT02926872
- Testing
- There is no intervention in the study
- Where
- 2 sites in United States
- Volunteers
- 22 people
- Sponsor
- Alexion Pharmaceuticals, Inc.
Down Syndrome, Trisomy 21
A New Prenatal Blood Test for Down Syndrome
The study will examine the sensitivity and specificity of a circulating cell-free nucleic acid test (DNA/RNA) to identify Down syndrome between about 10 weeks and 21 weeks 6 days gestation.
- Trial name
- RNA (NCT00877292)
- Where
- 27 sites in United States, Argentina and 8 more
- Volunteers
- 4,664 people
- Sponsor
- Women and Infants Hospital of Rhode Island
Candidates for BRCA 1/2 Genetic Testing
A Study of the Communication of Genetic Test Results By Telephone: A Multi-Center Study
The overall goal of the proposed research is to evaluate psychosocial and behavioral outcomes (i.e.risks and benefits) of an innovative and efficient delivery model for genetic testing, telephone communication, as an alternative…
- Trial name
- NCT01736345
- Testing
- Genetic Providers, Visual Aids, Post-Disclosure Asessments
- Where
- 5 sites in United States
- Volunteers
- 289 people, healthy volunteers welcome
- Sponsor
- Abramson Cancer Center at Penn Medicine
Infertility
Preimplantation Genetic Screening in IVF Treatment
This is the pilot phase of a randomised controlled trial. The purpose of the pilot study is to assess the ability to recruit, randomise, adherence to the study protocol and plan for a full study.
- Trial name
- PGSINIVF (NCT05009745)
- Testing
- PGT-A Strategy
- Where
- United Kingdom
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- King's College London
Prostate Cancer
PROCLAIM: Germline Genetic Testing for Prostate Cancer Patients
This registry is for men who have prostate cancer and have had multigene panel hereditary testing. The registry will gather data on genetic testing results and how that information may change physician treatment or follow up…
- Trial name
- NCT05447637
- Testing
- Invitae multi-cancer gene panel
- Where
- 19 sites in United States
- Volunteers
- 1,000 people
- Sponsor
- Invitae Corporation
Prostate Cancer
A Registry for Hereditary Cancer Risk Assessment and Genetic Testing
This prospective registry will evaluate the feasibility and impact of implementing standard cancer family history review and guideline-aligned genetic testing for men diagnosed with Prostate Cancer in community urology practices…
- Trial name
- NCT04015102
- Where
- 10 sites in United States
- Volunteers
- 255 people
- Sponsor
- Myriad Genetic Laboratories, Inc.
Locally Advanced Bladder Urothelial Carcinoma, Locally Advanced Renal Pelvis Urothelial Carcinoma
Testing Combination Erdafitinib and Enfortumab Vedotin in Metastatic Bladder Cancer After Treatment With Chemotherapy and Immunotherapy
This phase Ib trial evaluates the best dose, potential benefits, and/or side effects of erdafitinib in combination with enfortumab vedotin in treating patients with bladder cancer that has spread from where it first started…
- Conditions
- Locally Advanced Bladder Urothelial Carcinoma, Locally Advanced Renal Pelvis Urothelial Carcinoma, Locally Advanced Ureter Urothelial Carcinoma, Locally Advanced Urethral Urothelial Carcinoma
- Trial name
- NCT04963153
- Testing
- Biospecimen Collection, Bone Scan, Computed Tomography
- Where
- 9 sites in United States, Canada
- Volunteers
- 24 people
- Sponsor
- National Cancer Institute (NCI)
Diabetes
Regulation of Hepatic Insulin Extraction
This study is in the area of Type 2 diabetes and genetics Healthy Volunteers and those with mild type 2 diabetes may be eligible to participate This study is searching for genes that may affect the body's processing/digestion of…
- Trial name
- RHIE (NCT00811044)
- Volunteers
- healthy volunteers welcome
- Sponsor
- Washington University School of Medicine
Dent Disease
Dent Disease Mutation Genotyping
This study will help the investigator determine whether certain genetic mutations, more than others, are a cause of more severe disease in Dent Disease.
- Trial name
- NCT01783795
- Testing
- Genetic Analysis
- Where
- United States
- Volunteers
- 180 people, healthy volunteers welcome
- Sponsor
- Mayo Clinic
Genetic Screening, Adolescent
Engaging Adolescents in Decisions About Return of Genomic Research Results
Recent recommendations to return children's results for adult-onset conditions to parents anytime whole exome or genome sequencing is performed, as well as growing expectations to return research results to participants on a…
- Conditions
- Genetic Screening, Adolescent, Genetic Change, Shared Decision Making
- Trial name
- NCT04481061
- Testing
- Electronic Decision Tool
- Where
- 2 sites in United States
- Volunteers
- 787 people, healthy volunteers welcome
- Sponsor
- Children's Hospital Medical Center, Cincinnati
Wet AMD
Genetics Study of Wet Age-Related Macular Degeneration (AMD) Non-Responders to Vascular Endothelial Growth Factor (VEGF) Therapy
To obtain a genotypic analysis of patients with chronic exudative age-related macular degeneration noted to have subretinal or intraretinal edema despite continuous monthly Anti-VEGF therapy.
- Trial name
- NCT01310686
- Where
- United States
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- West Coast Retina Medical Group, Inc.
Spontaneous Coronary Artery Dissection, Spontaneous Coronary Artery Haematoma
The Study of the Prevalence Fibromuscular Dysplasia in Patient With Haematoma or Spontaneous Coronary Artery Dissection.
Spontaneous Coronary Artery Dissection (SCAD) is a rare and often misdiagnosed cause of Acute Coronary Syndrome (ACS) affecting predominantly young women without cardiovascular risk factors.
- Trial name
- DISCO (NCT02799186)
- Testing
- blood sample for genetic analysis
- Where
- France
- Volunteers
- 200 people
- Sponsor
- University Hospital, Clermont-Ferrand
Retinal Dystrophy, Cone-Rod, Cone Dystrophy
Study of New Mutations in Cone Disorders
High throughput sequencing gives the opportunity to improve the genetic diagnosis for patients suffering from retinal dystrophies and specially from cone disorders.
- Conditions
- Retinal Dystrophy, Cone-Rod, Cone Dystrophy, Cone Rod Dystrophy, Macular Degeneration
- Trial name
- INTROCONE (NCT04658251)
- Testing
- Blood and/or skin biopsy
- Where
- France
- Volunteers
- 7 people
- Sponsor
- University Hospital, Lille
Hyperlipoproteinemia Type II
FH Detection in Children by Salivary Test
Familial Hypercholesterolemia is a common cause of premature coronary heart disease, it is present in 1 per 500 to 1 per 250 people of the general population.
- Trial name
- DEPEDIACOL (NCT04261803)
- Testing
- salivary sample, blood test
- Where
- France
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Hospices Civils de Lyon
Alzheimer Disease
Discovery and Validation of Genetic Variants Affecting Microglial Activation in Alzheimer's Disease
The primary objectives are to validate that a previously identified gene variant influences the proportion of activated microglia (PAM) and the amount of TSPO binding on PET imaging, to identify novel loci that influence PAM and…
- Trial name
- NCT04840979
- Testing
- 11C-ER176, 18F-florbetaben
- Where
- United States
- Volunteers
- 107 people, healthy volunteers welcome
- Sponsor
- Columbia University
Craniofrontonasal Syndrome, CFNS
Genetic Analysis of Craniofrontonasal Syndrome
This study will determine whether all patients with craniofrontonasal syndrome (CFNS) have a mutation of a gene called ephrin-B1 (EFNB1).
- Trial name
- NCT00339846
- Where
- United States
- Volunteers
- 152 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Vivax Malaria, G6PD Deficiency
Short Course Primaquine for the Radical Cure of P. Vivax Malaria - Indonesia
The proportion of malaria that is the Plasmodium vivax species is increasing in Indonesia. Reducing vivax malaria will require innovative solutions to cure both the blood and liver stages of the disease.
- Trial name
- SCOPE (NCT05879224)
- Testing
- Revised case management package
- Where
- 6 sites in Indonesia
- Volunteers
- 2,999 people
- Sponsor
- Menzies School of Health Research
Severe Hemophilia A With Inhibitor
Thrombin Generation Assay (TGA) as Predictive Test for Haemostatic. Effectiveness of FVIII Concentrates in Haemophiliac A With Inhibitors
This is an observational, prospective, longitudinal, multicenter, cohort study designed with the scope to verify whether or not TGA may predict effectiveness of different FVIII concentrates class (devoid or rich of VWF) in…
- Trial name
- PredicTGA (NCT01505946)
- Testing
- TGA (Thrombin generation Assay)
- Where
- 15 sites in Italy
- Volunteers
- 25 people
- Sponsor
- Grifols Italia S.p.A