Clinical trials: Genetic Testing
Aneuploidy, Chromosome Abnormality
Clinical Value of Mosaicism Diagnosis on the Trophectoderm Biopsies
Mosaicism within an embryo is defined as the presence of two or more cell populations with different genotypes. Blastocysts classified as mosaic by Preimplamtation Genetic Testing for Aneuploidy (PGT-A) have been reported to…
- Trial name
- NS-MOSAICISM (NCT03673592)
- Testing
- PGT-A
- Where
- 3 sites in Italy
- Volunteers
- 783 people
- Sponsor
- Igenomix
Emphysema, Chronic Obstructive Pulmonary Disease
Emphysema Research Registry and Biosample Repository
The Comprehensive Lung Center (CLC) at the University of Pittsburgh Medical Center (UPMC Health System) provides patients with any type of breathing or lung disorder a full range of diagnostic and therapeutic services.
- Conditions
- Emphysema, Chronic Obstructive Pulmonary Disease, Chronic Bronchitis
- Trial name
- NCT00307281
- Where
- United States
- Volunteers
- 3,000 people, healthy volunteers welcome
- Sponsor
- University of Pittsburgh
Attenuated Familial Adenomatous Polyposis, Colorectal Carcinoma
Testing Obeticholic Acid for Familial Adenomatous Polyposis
This phase IIa trial investigates if giving obeticholic acid (OCA) is safe and has a beneficial effect on the number of polyps in the small bowel and colon in patients with familial adenomatous polyposis (FAP).
- Conditions
- Attenuated Familial Adenomatous Polyposis, Colorectal Carcinoma, Duodenal Carcinoma, Familial Adenomatous Polyposis
- Trial name
- NCT05223036
- Testing
- Biopsy Procedure, Biospecimen Collection, Gastrointestinal Endoscopy
- Where
- 7 sites in United States, Puerto Rico
- Volunteers
- 15 people
- Sponsor
- National Cancer Institute (NCI)
Chronic Kidney Diseases, Apolipoprotein L1
APOL1 Genetic Testing Program for Living Donors
Living donor (LD) kidney transplantation is the optimal treatment for patients with end-stage kidney disease (ESKD). However, LDs take on a higher risk of future ESKD themselves.
- Conditions
- Chronic Kidney Diseases, Apolipoprotein L1, Kidney Transplantation
- Trial name
- NCT04910867
- Testing
- Components of Genetic Counseling, APOL1 genetic testing, EHR integration
- Where
- 2 sites in United States
- Volunteers
- 280 people
- Sponsor
- Northwestern University
Type 1 Diabetes
M1no-Study - Early Identification of Infants With High Type 1 Diabetes Risk for Participation in Primary Prevention Trials
The goal of this observational study is to identify newborns at increased genetic risk of developing type 1 diabetes-specific beta-cell autoantibodies in order to determine eligibility for participation in primary prevention…
- Trial name
- M1N0 (NCT07670143)
- Where
- 5 sites in Italy
- Volunteers
- 50,000 people, healthy volunteers welcome
- Sponsor
- IRCCS San Raffaele
Undiagnosed Disease
Adult Patients With Undiagnosed Conditions and Their Responses to Clinically Uncertain Results From Exome Sequencing
Background: People with conditions that are unknown or hard to diagnose may be helped by a genetic technique. It is called exome sequencing. It helps diagnose disease by unlocking all the data in a person s genetic code.
- Trial name
- NCT03605004
- Where
- 2 sites in United States
- Volunteers
- 26 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Hemophilia
What is the Feasibility of the ISTEP Exercise Test in Boys With Haemophilia
This study will be used to assess the feasibility and sensitivity of using the iSTEP, to assess exercise capacity in boys with haemophilia. The feasibility criteria to be explored includes: 1.
- Trial name
- NCT04076306
- Testing
- iSTEP exercise testing
- Where
- United Kingdom
- Volunteers
- 43 people
- Sponsor
- Great Ormond Street Hospital for Children NHS Foundation Trust
Hereditary Angioedema
Social Evaluated Cold Pressor Test in Hereditary Angioedema Patients
This study aims to evaluate the differences in objective and subjective stress responses between patients with hereditary angioedema and healthy individuals to a stress-induced challenge like socially-evaluated cold pressure…
- Trial name
- FROSEN (NCT06414252)
- Where
- Italy
- Volunteers
- 40 people
- Sponsor
- Istituti Clinici Scientifici Maugeri SpA
Sudden Cardiac Death
The Role of Electrophysiology Testing in Survivors of Unexplained Cardiac Arrest
Sudden cardiac death (SCD) remains a major cause of mortality within developed nations despite aggressive efforts to reduce its societal burden.
- Trial name
- EPS ARREST (NCT03079414)
- Testing
- Invasive Electrophysiology Study
- Where
- 21 sites in United States, Canada and 1 more
- Volunteers
- 100 people
- Sponsor
- Western University, Canada
Prostate Cancer
Identification of Prostate Cancer Genes
This study will identify genes that predispose men to prostate cancer and affect the rate and type of disease spread, the aggressiveness of the disease, and the long-term outcome.
- Trial name
- NCT00342784
- Where
- United States
- Volunteers
- 5,118 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Prostate Cancer, Genetic Predisposition
Precision Medicine in the Prostate Cancer Care Pathway
This study aims to evaluate the use of a prostate cancer specific predisposition genetic panel test in men with / at high risk of prostate cancer.
- Trial name
- PMPRC (NCT04763317)
- Testing
- Prostate cancer risk gene panel
- Where
- United Kingdom
- Volunteers
- 3,000 people
- Sponsor
- Institute of Cancer Research, United Kingdom
Hereditary Diseases
Cell-based Non-invasive Prenatal Testing as an Alternative to Invasive Chorionic Villus Sampling
The study aims to evaluate cell-based non-invasive prenatal testing (cbNIPT) as an alternative to invasive chorionic villus sampling (CVS) in patients who achieve pregnancy following preimplantation genetic testing for hereditary…
- Trial name
- NCT05453474
- Testing
- Whole genome amplification
- Where
- Denmark
- Volunteers
- 48 people, healthy volunteers welcome
- Sponsor
- Aalborg University Hospital
Cystic Fibrosis, Cystic Fibrosis in Children
Program Of Exercises During The Hospitalization Of Children And Adolescents With Cystic Fibrosis
The objective of this study was to evaluate the effect of a physical exercise program on the functional capacity of children and adolescents with cystic fibrosis hospitalized at the Hospital de Clínicas of Porto Alegre (HCPA)…
- Conditions
- Cystic Fibrosis, Cystic Fibrosis in Children, Cystic Fibrosis Pulmonary Exacerbation, Cystic Fibrosis With Exacerbation
- Trial name
- NCT03273959
- Testing
- Exercise protocol
- Where
- Brazil
- Volunteers
- 50 people
- Sponsor
- Hospital de Clinicas de Porto Alegre
Treatment for Basal Cell Carcinomas (BCCs) in Gorlin Syndrome Patients
A Trial to Evaluate the Safety, Local Tolerability, Pharmacokinetics and Pharmacodynamics of LDE225 on Skin Basal Cell Carcinomas in Gorlin Syndrome Patients
Part I was a double-blind, randomized, vehicle-controlled Proof of Concept (PoC) study to evaluate the safety, local tolerability, pharmacokinetics and pharmacodynamics of multiple topical administrations of LDE225 (a specific…
- Trial name
- NCT00961896
- Testing
- Vehicle, LDE225 0.25%, LDE225 0.75%
- Where
- 3 sites in Austria, Switzerland
- Volunteers
- 18 people
- Sponsor
- Novartis Pharmaceuticals
Advanced Lymphoma, Advanced Malignant Solid Neoplasm
Testing Ado-Trastuzumab Emtansine as a Potential Targeted Treatment in Cancers With HER2 Genetic Changes (MATCH-Subprotocol Q)
This phase II MATCH treatment trial identifies the effects of ado-trastuzumab emtansine in patients whose cancer has a genetic change called HER2 amplification.
- Conditions
- Advanced Lymphoma, Advanced Malignant Solid Neoplasm, Hematopoietic and Lymphoid Cell Neoplasm, Refractory Lymphoma
- Trial name
- NCT04439110
- Testing
- Trastuzumab Emtansine
- Where
- United States
- Volunteers
- 38 people
- Sponsor
- National Cancer Institute (NCI)
Dermatitis, Atopic
A Study to Test the Effect of 2 Different Doses of Topical GW870086X on Atopic Dermatitis Also Including a Postive Control and a Placebo
This study is a randomised, double-blind, placebo-controlled study to assess the efficacy of GW870086X cream formulation in subjects with moderate to severe atopic dermatitis.
- Trial name
- NCT01299610
- Testing
- GW870086 2.0%, GW870086 0.2%, FP 0.05%
- Where
- Germany
- Volunteers
- 25 people
- Sponsor
- GlaxoSmithKline
Platelet Aggregation Inhibitors
The Influence of CYP2C19 Polymorphism and Clinical Outcomes in Stroke Patients
Background: Clopidogrel, an antiplatelet prodrug, is widely used for prevention of the recurrent cardiovascular events. CYP2C19 is one of the crucial enzymes for the activation of clopidogrel.
- Trial name
- NCT02711410
- Testing
- Clopidogrel
- Volunteers
- 518 people
- Sponsor
- National Cerebral and Cardiovascular Center, Japan
Genetic Disease, Cancer
Educational Video for Genetic Testing
Develop and evaluate the acceptability, feasibility, and preliminary efficacy of an informational video on paired tumor/normal testing for children and adolescents with a new diagnosis of cancer, tumors or other diagnosis.
- Trial name
- NCT05472714
- Testing
- Educational Video
- Where
- United States
- Volunteers
- 359 people
- Sponsor
- Children's Hospital of Philadelphia
Hip Fracture of Intertrochanteric Type, Thromboembolic Event
Diffrence in Thromboprofilaksis in Elderly Ostoepenic Hip Fractures According to Mobility Status by Genetic Analysis
Hip fracture is a common and severe disease in elderly patients. The question of the study is whether elderly patients with severe osteopenia have significantly lower levels of the collagen-binding protein Hsp47 than relatively…
- Conditions
- Hip Fracture of Intertrochanteric Type, Thromboembolic Event, Osteopenia, Thrombosis Embolism
- Trial name
- HSP 47 (NCT06959017)
- Testing
- Gene Expression Analysis
- Where
- Turkey (Türkiye)
- Volunteers
- 90 people, healthy volunteers welcome
- Sponsor
- Saglik Bilimleri Universitesi
Age-Related Macular Degeneration
Genetic Analysis of Patients Responsive to Ranibizumab But Resistant to Aflibercept
A cohort of patients responsive to treatment with ranibizumab but resistant to aflibercept were identified in a previously conducted retrospective study. Identified patients will have their blood drawn for genome wide sequencing.
- Trial name
- NCT02291887
- Testing
- Ranibizumab, Aflibercept
- Where
- United States
- Volunteers
- 13 people, healthy volunteers welcome
- Sponsor
- Associated Retinal Consultants, Michigan
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