Clinical trials: Genetic Screening, open to volunteers
Graves Ophthalmopathy, Graves Disease
Screening, Classification, and Outcome Prediction Ensemble Using Orbital MRI for Thyroid Eye Disease: The TED SCOPE National Multicenter Registry Study
The goal of this observational study is to prospectively validate the efficacy of an AI multimodal model constructed based on multi - sequence orbital MRI in the diagnosis, activity and severity assessment, and prognosis…
- Conditions
- Graves Ophthalmopathy, Graves Disease, Thyroid Associated Ophthalmopathies
- Trial name
- TED-SCOPE-MR (NCT07716397)
- Testing
- MRI scan，ocular ultrasound
- Where
- China
- Volunteers
- 1,200 people, healthy volunteers welcome
- Sponsor
- Shanghai Changzheng Hospital
Familial Hypercholesterolemia
EPIRUS FH Reverse Cascade Screening
Familial hypercholesterolemia (FH) is the most common inherited metabolic disorder resulting in marked elevations in low-density lipoprotein cholesterol (LDL-C).
- Trial name
- NCT05825612
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Hellenic Atherosclerosis Society
BRCA1-Related Hereditary Breast and Ovarian Cancer Syndrome, BRCA2-Related Hereditary Breast and Ovarian Cancer Syndrome
A Web-Based Program (Kindred) to Improve the Understanding of Genetic Cancer Risk and Cancer Genetic Testing in African American Families
This clinical trial studies whether a web-based program, Kindred, works to improve the understanding of genetic cancer risk and cancer genetic testing in African American families.
- Conditions
- BRCA1-Related Hereditary Breast and Ovarian Cancer Syndrome, BRCA2-Related Hereditary Breast and Ovarian Cancer Syndrome, Hereditary Neoplastic Syndrome, Lynch Syndrome
- Trial name
- NCT07542405
- Testing
- Discussion, Internet-Based Intervention, Survey Administration
- Where
- United States
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- University of Michigan Rogel Cancer Center
Medulloblastoma, Medulloblastoma, Childhood
Individualized Treatment Plan in Children and Young Adults With Relapsed Medulloblastoma and Ependymoma
The current study will use a new treatment approach based on the molecular characteristics of each participant's tumor. The study will test the feasibility in the pilot phase of performing real-time drug screening on tissue taken…
- Conditions
- Medulloblastoma, Medulloblastoma, Childhood, Medulloblastoma Recurrent, Ependymoma
- Trial name
- PNOC027 (NCT05057702)
- Testing
- Specialized Tumor Board Treatment Plan, Combinations
- Where
- 9 sites in United States
- Volunteers
- 74 people
- Sponsor
- University of California, San Francisco
Cystic Fibrosis-related Diabetes, Cystic Fibrosis
Continuous Glucose Monitoring and OGTT Screen for Cystic Fibrosis Related Diabetes in Cystic Fibrosis
Cystic Fibrosis (CF) related diabetes (CFRD) is a unique form of diabetes mellitus, different from type 1 diabetes and type 2 diabetes.
- Trial name
- NCT06560463
- Testing
- Access to Dexcom G7 CGM Data
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- Medical College of Wisconsin
Lynch Syndrome
Overcoming Barriers to Uptake of Cascade Screening
Lynch syndrome is a genetic condition that increases cancer risk. The public health impact of genetic testing for disease prevention hinges on cascade screening, which is the systematic identification and testing of blood…
- Trial name
- NCT07304063
- Testing
- Let's Talk Genetics Providers, Let's Talk Patients
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- UNC Lineberger Comprehensive Cancer Center
Lynch Syndrome, Colorectal Cancer (CRC)
Predictive Value of PREMM5, MMRpredict, and Universal Tumor Screening for Lynch Syndrome in Vietnam
This study evaluates the predictive value of PREMM5, MMRpredict models, and Universal Tumor Screening in detecting Lynch Syndrome in colorectal cancer (CRC) patients in Vietnam.
- Trial name
- Predict_LS_VN (NCT06863038)
- Where
- Vietnam
- Volunteers
- 572 people
- Sponsor
- University of Medicine and Pharmacy at Ho Chi Minh City
Familial Hypercholesterolemia
Child-Parent Familial Hypercholesterolemia Screening
Child-parent screening for familial hypercholesterolemia has been proposed to identify children and their parent who are carrier of mutations and with high risk for inherited premature coronary artery disease.
- Trial name
- NCT04529967
- Testing
- no interventions
- Where
- 6 sites in China
- Volunteers
- 15,000 people
- Sponsor
- Children's Hospital of Fudan University
Hereditary Cancer Syndromes
Feasibility Study of a Chatbot AI-Driven Preliminary Screening System for Hereditary Cancer Syndromes
This study aims to assess the feasibility of implementing an AI-based hereditary cancer preliminary screening system that has already been developed.
- Trial name
- NCT07901543
- Testing
- Hereditary cancer preliminary screening chatbot
- Where
- Singapore
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- National Cancer Centre, Singapore
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
Familial Hypercholesterolemia
Penn Family Screening for Familial Hypercholesterolemia
The goal of this clinical trial is to test two implementation strategies (automated health system [Penn Medicine]-mediated strategy vs.
- Trial name
- NHLBI-R33 (NCT05750667)
- Testing
- Cascade screening
- Where
- United States
- Volunteers
- 800 people
- Sponsor
- Northwestern University
Duchenne Muscular Dystrophy (DMD)
The Baby Duchenne Study: Characterizing Developmental and Clinical Outcomes in the First Three Years in Children With Duchenne Muscular Dystrophy
The aim of the BABY DUCHENNE study is to evaluate the natural history and characterize the early clinical outcomes in very young children (0-3 years) with Duchenne muscular dystrophy (DMD) identified by newborn screening programs.
- Trial name
- BABY DUCHENNE (NCT07092540)
- Where
- 4 sites in United States
- Volunteers
- 105 people
- Sponsor
- University of Rochester
Cancer Predisposition Syndromes, Pediatric Cancer
Questionnaire on Congenital Cancer Signs Through Self-Assessment
This clinical trial tests whether a patient- and caregiver-completed questionnaire (QUOCCAS) can accurately help identify children and adolescents with cancer who may have an underlying cancer predisposition syndrome (CPS).
- Conditions
- Cancer Predisposition Syndromes, Pediatric Cancer, Childhood Neoplasms, Hereditary Cancer Syndromes
- Trial name
- QUOCCAS (NCT07378423)
- Testing
- Pre-Visit Preparation (PVP) Brochure, QUOCCAS Questionnaire, Germline genetic sequencing for Cancer Predisposition Syndromes (CPS)
- Where
- Switzerland
- Volunteers
- 205 people
- Sponsor
- Insel Gruppe AG, University Hospital Bern
Congenital Hypothyroidism
Quality of Life and Long-term Outcome of Adequately Treated Congenital Hypothyroidism
The primary objective of this observational study is the evaluation of the quality of life and long-term outccome of young-adult patients with congenital hypothyroidism diagnosed by neonatal screening receiving replacement…
- Trial name
- CHQoL (NCT06864039)
- Testing
- SF36 test, WAIS IV test, SCL-90 psychopathological screening questionnaire
- Where
- Italy
- Volunteers
- 150 people
- Sponsor
- Federico II University
Aneuploidy, Mosaicism
Pregnancy and Developmental Outcomes After Transfer of Reportedly Aneuploid or Mosaic Embryos
To determine how often embryos reported to be abnormal by preimplantation genetic testing result in liveborn infants. To evaluate whether the pregnancies that result from these embryos are higher risk for complications and…
- Conditions
- Aneuploidy, Mosaicism, Pregnancy Outcome
- Trial name
- TAME (NCT04109846)
- Testing
- Non-euploid embryo transfer, Euploid Transfer
- Where
- United States
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- Stanford University
Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors
Screening for Disorders of Lipid Metabolism and Familial Hyperlipidemia in Children and Adolescents With Increased Cardiovascular Risk Due to Chronic Diseases Such as Congenital Heart Disease, Chronic Inflammatory Bowel Disease, Celiac Disease and Rheumatic Disorders
Preventive measures are increasingly coming to the forefront of medicine. Many of these measures can be implemented as early as childhood and adolescence.
- Conditions
- Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors, Congenital Heart Disease, Inflammatory Bowel Disease (IBD)
- Trial name
- FAMELIPIDCHILD (NCT07716488)
- Testing
- blood test, questionaire
- Where
- Germany
- Volunteers
- 600 people
- Sponsor
- Alexandra Miriam Kiess
Spinal Muscular Atrophy (SMA), Spinal Muscular Atrophy Type I
Psychological Evaluation of the Parental Experience of Newborn Screening for Infantile Spinal Muscular Atrophy in the Grand Est and Nouvelle-Aquitaine Regions
The systematic inclusion of spinal muscular atrophy (SMA) in France's neonatal genetic screening (NGS) program, scheduled for September 2025, represents a major milestone in public health.
- Trial name
- PSYSMA (NCT07208903)
- Testing
- focus group discussions, Interview with the psychologist
- Volunteers
- 36 people, healthy volunteers welcome
- Sponsor
- University Hospital, Strasbourg, France
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
Prostatic Neoplasm, Prostate Cancer
Prostate Cancer Genetic Risk Evaluation and Screening Study
This study aims to define the natural history of men at high genetic risk for prostate cancer on the basis of specific germline genetic mutations, family history, or Black/African ancestry and evaluate the utility of prostate MRI…
- Conditions
- Prostatic Neoplasm, Prostate Cancer, BRCA2 Mutation, BRCA1 Mutation
- Trial name
- PROGRESS (NCT05129605)
- Testing
- Prostate cancer screening
- Where
- United States
- Volunteers
- 400 people
- Sponsor
- Massachusetts General Hospital
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