Clinical trials: Genetic Screening
Monoclonal Gammopathy of Undetermined Significance
MGUS/MM Awareness and Genetics Insights Campaign (MAGIC) Screening Study
This study is being done to screen adults for MGUS and to better understand the genetic and immune factors linked to this condition.
- Trial name
- MAGIC (NCT06472830)
- Testing
- Non-Interventional Study
- Where
- United States
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Mayo Clinic
Autism Spectrum Disorder
Early Detection of Autism Spectrum Disorder in Children
Rationale: Autism Spectrum Disorder (ASD) is defined by deficits in social interaction and communication identified before the age of 3 years.
- Trial name
- NCT01646866
- Where
- United States
- Volunteers
- 37 people, healthy volunteers welcome
- Sponsor
- St. Louis University
Type 1 Diabetes, Celiac Disease
General Population Level Estimation for Type 1 Diabetes Risk in Children During Routine Care Delivery
In partnership with Helmsley Charitable Trust, the Sanford PLEDGE Study is a large-scale, observational, feasibility study of general population screening for T1D and celiac autoantibodies.
- Trial name
- PLEDGE (NCT04477928)
- Testing
- Sera and whole blood sampling, Differential Gene Expression (DGE)
- Where
- 4 sites in United States
- Volunteers
- 33,000 people, healthy volunteers welcome
- Sponsor
- Sanford Health
Inborn Errors of Metabolism, Rare Diseases
Blood Spot and Urine Metabolomic Screening Applied to Rare Diseases
The primary goal of this study is to establish a biobank of dried blood spots and urines from a large control cohort and collect several cohorts as large as possible of patients affected or suspected of being affected by rare…
- Trial name
- BUSARD (NCT06360913)
- Testing
- High resolution mass spectrometry
- Where
- 4 sites in Belgium
- Volunteers
- 2,286 people, healthy volunteers welcome
- Sponsor
- Cliniques universitaires Saint-Luc- Université Catholique de Louvain
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
X-Linked Genetic Diseases, Autosomal Recessive Disorder
Mackenzie's Mission: The Australian Reproductive Carrier Screening Project
This study will investigate reproductive genetic carrier screening (RGCS) in 10,000 couples across Australia. Carrier screening for approximately 1300 genes associated with severe, childhood-onset, X-linked and autosomal…
- Trial name
- NCT04157595
- Testing
- Reproductive Genetic Carrier Screening
- Where
- 24 sites in Australia
- Volunteers
- 18,302 people, healthy volunteers welcome
- Sponsor
- Murdoch Childrens Research Institute
Cancer
Physicians Survey on Genetic Testing
Research and development in genetic testing for cancer susceptibility genes has advanced rapidly in recent years, allowing healthy individuals, cancer patients, and their families to determine if they carry mutations which…
- Trial name
- NCT00341107
- Volunteers
- 1,350 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
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
Infertility, Fertility
Mono-menotropins Versus rFSH Protocol on Embryo Quality
This study is for couples pursuing in vitro fertilization (IVF) with preimplantation genetic screening (PGS) of embryos to achieve pregnancy.
- Trial name
- NCT02418533
- Testing
- menotropin, Recominant Follicle Stimulating Hormone (rFSH)
- Where
- United States
- Volunteers
- 109 people, healthy volunteers welcome
- Sponsor
- Main Line Fertility Center
Aneuploidy, Genetic Disease
Effect of Video Education on Patients' Knowledge and Attitudes of Privacy in Prenatal Genetics
The investigators propose a randomized controlled trial to assess baseline maternal knowledge of and attitudes toward commercial prenatal genetic testing laboratories' genetic privacy practices, and to determine whether a brief…
- Conditions
- Aneuploidy, Genetic Disease, Pregnancy Related
- Trial name
- NCT04420858
- Testing
- Enhanced (experimental) education, Standard (control) education.
- Where
- United States
- Volunteers
- 162 people, healthy volunteers welcome
- Sponsor
- Women and Infants Hospital of Rhode Island
Decision Making, Chromosome Abnormality
Efficacy of Counseling for Prenatal Screening and Diagnostic Tests on Pregnant Women: Randomised Controlled Study
The aim of this study was to evaluate the effect of counseling for prenatal screening and diagnostic tests on pregnant women's decisional conflict, being sure of the decision, anxiety levels, and attitudes towards the tests.
- Conditions
- Decision Making, Chromosome Abnormality, Anxiety, Knowledge, Attitudes, Practice
- Trial name
- NCT03825978
- Testing
- Prenatal Genetic Counseling
- Where
- 2 sites in Turkey (Türkiye)
- Volunteers
- 260 people, healthy volunteers welcome
- Sponsor
- Saglik Bilimleri Universitesi Gulhane Tip Fakultesi
Any Single Gene Disorder (Cystic Fibrosis, Tay-Sachs)
Concurrent Single Gene and 24 Chromosome Aneuploidy Preimplantation Genetic Diagnosis (PGD)
Gene Security Network has developed a novel technology called Parental SupportTM (PS) which is used for Preimplantation Genetic Screening/Diagnosis (PGS/D) during in vitro fertilization (IVF).
- Trial name
- IVF008 (NCT01023048)
- Testing
- preimplantation diagnosis
- Where
- United States
- Volunteers
- 56 people, healthy volunteers welcome
- Sponsor
- Natera, Inc.
Urothelial Carcinoma, Lynch Syndrome
Urothelial Cancer Screening in Individuals With Lynch Syndrome Using a Urine Tumor DNA Panel (LS-URO Study)
Lynch syndrome (LS) is an inherited cancer predisposition syndrome caused by pathogenic germline variants in DNA mismatch repair (MMR) genes.
- Trial name
- NCT06218433
- Testing
- Urothelial cancer screening using urine tumor DNA test, Urothelial cancer screening using urine cytology (comparator)
- Where
- 2 sites in Canada, Finland
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Tampere University Hospital
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
Prostate Cancer
The ProCaRis Study: Prostate Cancer Risk Assessment in General Practice
The preferred method for early detection of prostate cancer (PCa) in older men with family history is the Prostate Specific Antigen test (PSA test), although the method is imprecise.
- Trial name
- ProCaRis (NCT01739062)
- Testing
- Genetic risk assessment
- Where
- Denmark
- Volunteers
- 5,000 people, healthy volunteers welcome
- Sponsor
- University of Aarhus