Clinical trials: Genetic Screening, open to volunteers
Breast Cancer Screening, Colon Cancer Screening
Bundled Cancer Screening and Genetic Services Navigation
The goal of this study is to test bundled familial cancer risk assessment + multicancer (colorectal + breast) vs. single (breast) cancer navigation, using a wait list control for colorectal cancer screening referral and…
- Conditions
- Breast Cancer Screening, Colon Cancer Screening, Genetics Predisposition
- Trial name
- NCT07228000
- Testing
- Breast cancer screening navigation, Multicancer screening navigation, Usual care genetics referral
- Where
- 2 sites in United States
- Volunteers
- 820 people, healthy volunteers welcome
- Sponsor
- Georgetown University
Down Syndrome, Fetal Aneuploidy
Specimen Collection From Pregnant Women at Increased Risk for Fetal Aneuploidy
The specimen collection is designed for the purpose of the development of a noninvasive prenatal test for T21.
- Trial name
- NCT01429389
- Where
- 14 sites in United States, Canada
- Volunteers
- 2,000 people
- Sponsor
- Sequenom, Inc.
Phenylketonuria
Announcement of Rare Metabolic Diseases in Systematic Newborn Screening: the Phenylketonuria Experience.
The aims of this collaborative, interdisciplinary research project are to understand and describe the psychological impact of the announcement of a rare, serious disease present since birth and detected in the context of the…
- Trial name
- ANNPHE (NCT06289348)
- Testing
- socio-psychological questionnaire, revised event impact scale (IER-S), Non directive interview
- Where
- France
- Volunteers
- 80 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Genetic Disease
An Adaptive Clinical Trial of BeginNGS Newborn Screening for Hundreds of Genetic Diseases by Genome Sequencing
The goal of this clinical trial is to test a new method for newborn screening using whole genome sequencing, called BeginNGS. Parents will be approached to provide informed consent to enroll their newborns in prenatal, postnatal…
- Trial name
- BeginNGS (NCT06306521)
- Testing
- BeginNGS Test
- Where
- United States
- Volunteers
- 10,000 people, healthy volunteers welcome
- Sponsor
- Rady Pediatric Genomics & Systems Medicine Institute
Chronic Granulomatous Disease (CGD), X-Linked Severe Combined Immune Deficiency (XSCID)
Evaluation of Patients With Immune Function Abnormalities
This study will evaluate patients with abnormal immune function that results in recurrent or unusual infections or chronic inflammation.
- Conditions
- Chronic Granulomatous Disease (CGD), X-Linked Severe Combined Immune Deficiency (XSCID), Leukocyte Adhesion Deficiency 1 (LAD), Graft Versus Host Disease (cGvHD)
- Trial name
- NCT00128973
- Where
- United States
- Volunteers
- 3,500 people, healthy volunteers welcome
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Prostate Cancer, Polygenic Risk Score
Polygenic Risk Stratification Combined With mpMRI to Identify Clinically Relevant Prostate Cancer
The goal of this clinical trial is to evaluate a screening method to detect clinically relevant prostate cancer. This clinical trial is using genetic data to determine a man's risk of cancer, together with multiparametric…
- Trial name
- PRS (NCT06398639)
- Testing
- Polygenic Risk Score (PRS)
- Where
- 5 sites in United States
- Volunteers
- 1,500 people, healthy volunteers welcome
- Sponsor
- Adam S. Kibel, MD
Immune Deficiencies
Detection and Characterization of Infections and Infection Susceptibility
This screening study will examine the causes of immune disorders affecting white blood cells, which defend against infections and will try to develop better means of diagnosis and treatment of these immune disorders.
- Trial name
- NCT00404560
- Where
- United States
- Volunteers
- 2,000 people
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
PGT-A, PCOS
PIMS vs PGT-A in Infertile PCOS Patients
This experiment has become a serious issue for two reasons: DNA methylation plays an important role during embryogenesis, global abnormal methylome reprogramming often occurs in human embryos, and DNA methylome pattern is…
- Conditions
- PGT-A, PCOS, PIMS
- Trial name
- NCT06887881
- Testing
- PIMS screening, PGT-A screening
- Where
- China
- Volunteers
- 766 people
- Sponsor
- First Affiliated Hospital, Sun Yat-Sen University
Familial Hypercholesterolemia
Penn Family Screening for Familial Hypercholesterolemia (NHLBI R33) Trial 3
The goal of this clinical trial is to test two implementation strategies (digital strategy vs. care navigator strategy) to promote family cascade screening for familial hypercholesterolemia (FH) in Penn Medicine patients…
- Trial name
- NCT07919353
- Testing
- Cascade Screening
- Where
- United States
- Volunteers
- 110 people
- Sponsor
- Northwestern University
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
Prenatal Disorder
Engaging Patients in Prenatal Genetic Testing Decisions as a Pathway to Improve Obstetric Outcomes
The goal of this study is to ensure that pregnant patients have the resources and support needed to access Prenatal Screening \& Diagnostic Testing (PS\&D) in an informed and evidence-based fashion by developing an innovative…
- Trial name
- OPUS (NCT06382636)
- Testing
- Standard Care, Obstetric Prenatal Genetic Testing Engagement Solution (OPUS) AI Chatbot
- Where
- 3 sites in United States
- Volunteers
- 600 people
- Sponsor
- The Cleveland Clinic
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
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
Prostate Cancer
The Prostate Cancer, Genetic Risk, and Equitable Screening Study (ProGRESS)
Prostate cancer is the most common non-skin cancer among Veterans and the second leading cause of male cancer death. Current methods of screening men for prostate cancer are inaccurate and cannot identify which men do not have…
- Trial name
- ProGRESS (NCT05926102)
- Testing
- Precision screening intervention, Usual care
- Where
- United States
- Volunteers
- 5,000 people, healthy volunteers welcome
- Sponsor
- VA Office of Research and Development
Gaucher Disease
Screening for Gaucher Disease and Acid Sphingomyelinase Deficiency
High-risk screening for Gaucher disease and Acid Sphingomyelinase Deficiency in patients with splenomegaly and/or thrombocytopenia in Taiwan
- Trial name
- NCT06258577
- Where
- Taiwan
- Volunteers
- 50 people
- Sponsor
- Chung-Hsing Wang
Malignant Hyperthermia
Screening of Malignant Hyperthermia Susceptible Individuals
This study intends to target patients who underwent surgery under general anesthesia during the study period and developed malignant hyperthermia during or after surgery.
- Trial name
- NCT05402839
- Where
- China
- Volunteers
- 50 people
- Sponsor
- Peking University Third Hospital
Cardiac Amyloidosis
Artificial Intelligence Guided Echocardiographic Screening of Rare Diseases (EchoNet-Screening)
Despite rapidly advancing developments in targeted therapeutics and genetic sequencing, persistent limits in the accuracy and throughput of clinical phenotyping has led to a widening gap between the potential and the actual…
- Trial name
- NCT05139797
- Testing
- EchoNet-LVH screening for cardiac amyloidosis
- Where
- United States
- Volunteers
- 300 people
- Sponsor
- Cedars-Sinai Medical Center
Biotinidase Deficiency
Neonatal Screening of Biotinidase Deficiency: Genotype-phenotype Correlation and Clinical Follow-up
Retro-prospective, single-centre, observational study conducted at the Endocrine-Metabolic Diseases Center of the Pediatrics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Italy.
- Trial name
- NCT06723925
- Where
- Italy
- Volunteers
- 180 people
- Sponsor
- IRCCS Azienda Ospedaliero-Universitaria di Bologna
Endometrial Cancer, Lynch Syndrome
Menstrual Cup for Early Endometrial Cancer Detection in Lynch Syndrome
Study Goal: This pilot study wants to find out if using a menstrual cup can be a good, non-invasive way to collect samples from the lining of the uterus (called the endometrium) to help screen for endometrial cancer.
- Conditions
- Endometrial Cancer, Lynch Syndrome, Screening, Early Detection of Cancer
- Trial name
- SCREEN-CUP (NCT07220239)
- Testing
- Menstrual cup use
- Where
- United States
- Volunteers
- 25 people, healthy volunteers welcome
- Sponsor
- Jessica D. St. Laurent, MD
Congenital Hypothyroidism
Role of Next Generation Sequencing in the Etiological Diagnosis of Permanent Congenital Hypothyroidism With in Situ Thyroid
Retro-prospective, exploratory, single-centre observational study conducted at the Endrocrine-Metabolic Diseases Centre of the Pediatrics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Italy.
- Trial name
- NCT06728735
- Where
- Italy
- Volunteers
- 350 people
- Sponsor
- IRCCS Azienda Ospedaliero-Universitaria di Bologna