Clinical trials: Genetic Screening
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
Aneuploidy
Polar Body Biopsy for Preimplantation Genetic Screening
People with infertility undergoing in vitro fertilization (IVF) can test the embryos using a method called preimplantation genetic screening (PGS) before they are implanted in the uterus to possibly increase their chances of…
- Trial name
- Polar Body (NCT01574404)
- Testing
- Polar body biopsy with PGS
- Where
- United States
- Volunteers
- 33 people, healthy volunteers welcome
- Sponsor
- Weill Medical College of Cornell University
Spinal Muscular Atrophy, Duchenne Muscular Dystrophy
Public AttitudesTowards SMA and DMD Awareness, Newborn and Carrier Screening and Physiotherapy Practices
The addition of SMA and DMD muscle diseases to newborn screening and premarital carrier screening has been controversial. In this study, researchers aim to measure the awareness level of SMA and DMD muscle diseases of individuals…
- Conditions
- Spinal Muscular Atrophy, Duchenne Muscular Dystrophy, Healthy Individuals
- Trial name
- NCT05110885
- Testing
- Questionnaire
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Bahçeşehir University
Pancreas Cancer, Pancreatic Ductal Adenocarcinoma
Clinical Performance of Medical Device Software "Lipidica 1.0" for Processing Data Generated by Lipidomic Analysis in Pancreatic Cancer Screening
Software "Lipidica" is intended to be used for processing data generated by the in-house in vitro diagnostic medical device for lipidomic testing for the purpose of screening Pancreatic cancer (PaC) in the population at high risk…
- Conditions
- Pancreas Cancer, Pancreatic Ductal Adenocarcinoma, Hereditary Diseases, Pancreatitis, Chronic
- Trial name
- NCT06549725
- Testing
- software Lipidica, endoscopic ultrasonography, magnetic resonance
- Where
- 16 sites in Czechia
- Volunteers
- 419 people, healthy volunteers welcome
- Sponsor
- Lipidica, a.s.
Prostate Carcinoma
Genetic Information to Inform Treatment and Screening for Prostate Cancer, GIFTS Study
This trial studies the role of inherited (present at birth) mutations in cancer risk genes such as BRCA2, BRCA1, ATM, CHEK2, and others in relation to prostate cancer.
- Trial name
- GIFTS (NCT04254133)
- Testing
- Questionnaire, Biospecimen Collection, Genetic Testing
- Where
- United States
- Volunteers
- 1,360 people, healthy volunteers welcome
- Sponsor
- Fred Hutchinson Cancer Center
Thalassemia
Development of THALEA Kit and Its Impact on Knowledge, Attitude, and Intention for Premarital Thalassemia Screening
Thalassemia, a common genetic disease, is often overlooked compared to infectious diseases like HIV, despite its significant effects for families planning to have children.
- Trial name
- THALEA (NCT06800495)
- Testing
- THALEA (Thalassemia Education and Awareness) Kit, Basic thalassemia and family health education
- Where
- Malaysia
- Volunteers
- 148 people, healthy volunteers welcome
- Sponsor
- Universiti Teknologi Mara
Genetic Predisposition to Disease, Hereditary Diseases
Implementation of Whole Genome Sequencing as Screening in a Diverse Cohort of Healthy Infants
This research study is exploring the use of genomic sequencing in the newborn period to screen healthy babies for current and future health risks.
- Trial name
- NCT05161169
- Testing
- Genome Sequencing
- Where
- 3 sites in United States
- Volunteers
- 640 people, healthy volunteers welcome
- Sponsor
- Brigham and Women's Hospital
Anemia, Sickle Cell
Specifying Interventions From the Sickle Cell Disease Implementation Consortium (SCDIC)
The goal of this study is to specify the interventions, implementation strategies and control conditions from the Sickle Cell Disease Implementation Consortium (SCDIC) using a mixed-methods approach to study site materials and…
- Trial name
- NCT03380351
- Testing
- SCDIC interventions
- Where
- United States
- Volunteers
- 17 people, healthy volunteers welcome
- Sponsor
- Washington University School of Medicine
Dental Caries
Study of Factors of Genetic Susceptibility Associated to Severe Caries Phenotype
Alteration of the post- eruptive enamel microstructure due to a mutation of a gene coding for a matrix protein could increase the susceptibility of the enamel to caries after tooth eruption.
- Trial name
- Cariogene (NCT00541060)
- Testing
- mutation
- Where
- France
- Volunteers
- 390 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Cardiovascular Diseases, Cancer
Genomic Medicine Risk Assessment Care for Everyone - Implementation Phase
The "Genomic medicine Risk Assessment Care for Everyone" (GRACE)" intervention project will develop a scalable end-to-end solution for risk assessment and management that meets the needs of those populations living in low…
- Conditions
- Cardiovascular Diseases, Cancer, Liver Diseases, Hyperthermia
- Trial name
- GRACE (NCT06278883)
- Testing
- Disease Risk Assessment
- Where
- 4 sites in United States
- Volunteers
- 245 people, healthy volunteers welcome
- Sponsor
- Duke University
Type 1 Diabetes, Familial Hypercholesterolemia
Pediatric Population Screening for Type 1 Diabetes and Familial Hypercholesterolemia in Lower Saxony, Germany
This is a Pilot/ feasibility study for a population-based Screening in all children 2 to 6 years in Lower Saxony, Germany during the compulsory (U7 (from the age of 2) U7a, U8, U9) routine check-ups and any voluntary visits to…
- Trial name
- Fr1dolin (NCT02750527)
- Volunteers
- 13,049 people, healthy volunteers welcome
- Sponsor
- Kinderkrankenhaus auf der Bult
Prostate Cancer, Hereditary Prostate Cancer
Targeted Prostate Cancer Screening in Men With BRCA1/2 Mutations
This interventional study is a follow-up component of the IMPACT project, which aims to identify men at increased hereditary risk of prostate cancer.
- Trial name
- IMPACT (NCT07416812)
- Testing
- Targeted Prostate Cancer Screening, Telephone Follow-Up Interview
- Where
- Slovenia
- Volunteers
- 25 people, healthy volunteers welcome
- Sponsor
- Institute of Oncology Ljubljana
Pompe Disease
Newborn Screening Assay of Pompe's Disease
The purpose of this study is to test the feasibility of a newborn screen assay for Pompe disease
- Trial name
- NCT01758354
- Testing
- Pompe disease newborn screening
- Where
- Taiwan
- Volunteers
- 236,536 people, healthy volunteers welcome
- Sponsor
- National Taiwan University Hospital
Cystic Fibrosis, Sensorineural Hearing Loss
Evaluation of the High Frequency Digit Triplet Test in Cystic Fibrosis
The purpose of this study is to find out whether the High Frequency Digit Triplet test can be used to screen patients with cystic fibrosis for hearing loss in conditions of health and pulmonary exacerbation.
- Trial name
- 3D-CF (NCT02252601)
- Testing
- HFDT test, Pure tone Audiogram
- Where
- 3 sites in United Kingdom
- Volunteers
- 388 people, healthy volunteers welcome
- Sponsor
- University of Nottingham
Sickle Cell Trait, Sickle Cell Disease
Blood Sampling for Research Related to Sickle Cell Disease
This study will collect representative blood samples from healthy children and adults and from children and adults who have unique red blood cell features that are related to sickle cell disease.
- Conditions
- Sickle Cell Trait, Sickle Cell Disease, Sickle Cell Anemia
- Trial name
- NCT00542230
- Where
- United States
- Volunteers
- 250 people, healthy volunteers welcome
- Sponsor
- National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Familial Hypercholesterolemia, Cholesterol, Elevated
Improved Diagnosis of Familial Hypercholesterolemia Across the Northland (ID-FH)
The overall goal of this study is to promote awareness of Familial Hypercholesterolemia (FH). The investigators aim to enroll patients with suspected FH into the study and will randomize them to receive usual care or motivational…
- Conditions
- Familial Hypercholesterolemia, Cholesterol, Elevated, Genetic Disease
- Trial name
- ID-FH (NCT05238519)
- Testing
- Motivational interview (MI)
- Where
- 2 sites in United States
- Volunteers
- 257 people, healthy volunteers welcome
- Sponsor
- Essentia Health
Colorectal Cancer, Colorectal Adenoma
The Implementation of Genetic Risk for Colorectal Cancer Screening
The goal of this study is to investigate genetic risk for colorectal cancer utilizing polygenic risk scores (PRS) for adults over 45 who have not received their first colonoscopy. The main questions it hopes to address are: 1.
- Conditions
- Colorectal Cancer, Colorectal Adenoma, Colorectal Polyp
- Trial name
- PRO-GENE-COLON (NCT07621757)
- Where
- United States
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Endeavor Health
Severe Combined Immunodeficiency
The Experience of Screening for SCID
This project will evaluate the impact of including Severe Combined Immunodeficiency into the newborn bloodspot screening panel. It will recruit parents and health professionals primarily from the sites where this new form of…
- Trial name
- NCT05651113
- Testing
- SCID Screening
- Where
- United Kingdom
- Volunteers
- 90 people, healthy volunteers welcome
- Sponsor
- King's College London
Genetic Disorder, Fertility Disorders
Retrospective Study on Clinical Results of Preimplantation Genetic Screening at Different Embryo Stage
Preimplantational genetic screen (PGS) is tool for diagnosis of embryo chromosome abnormality before transfer. Under this tool, patients with a family history of genetic disease or special genetic disease could avoid to produce…
- Conditions
- Genetic Disorder, Fertility Disorders, Reproductive Disorder
- Trial name
- NCT03065114
- Testing
- PGS
- Volunteers
- 500 people, healthy volunteers welcome
- Sponsor
- Yeh
Male Sterility Due to Y-chromosome Deletions
Aneuploidies in Embryos and Spermatozoa From Patients With Y-chromosome Microdeletions
In this study, investigators assess, using Fluorescence in situ Hybridization (FISH) and Comparative Genomic Hybridization (CGH) arrays for Preimplantation Genetic Screening (PGS), the incidence of aneuploidies in spermatozoa and…
- Trial name
- NCT02527954
- Where
- 3 sites in Spain
- Volunteers
- 5 people, healthy volunteers welcome
- Sponsor
- Instituto Valenciano de Infertilidad, IVI Alicante