Clinical trials: Genetic Screening, open to volunteers
Cardiac Amyloidosis, Transthyretin Amyloidosis
ATTRACT-52: Primary Care Cardiac Amyloidosis Screening in Ordu, Turkey
Cardiac amyloidosis is a progressive infiltrative cardiomyopathy, most commonly related to transthyretin (ATTR) misfolding. Although considered rare, emerging data suggest higher prevalence in specific regions, including the…
- Trial name
- ATTRACT-52 (NCT07238426)
- Where
- Turkey (Türkiye)
- Volunteers
- 800 people
- Sponsor
- Kotyora Family Medicine Health Management and Education Association
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
Delivery of Health Care, Genetic Testing
Supporting Just-In-Time Consent for Prenatal Screening: The INFORM Study
This clinical trial is about prenatal genetic screening. It will test an intervention to help people make decisions about screening. The intervention is a short set of information cards about screening.
- Conditions
- Delivery of Health Care, Genetic Testing, Humans, Pregnancy
- Trial name
- NCT07557303
- Testing
- Mobile-based Educational Intervention
- Where
- 3 sites in United States
- Volunteers
- 1,400 people, healthy volunteers welcome
- Sponsor
- Case Western Reserve University
Breast Cancer, Breast Cancer Risk
Genetic Assessment of Breast Cancer Risk in Women in the DORA Programme
This prospective study evaluates whether a more detailed clinical and genetic assessment can improve the classification of individual breast cancer risk among women previously identified as having moderately increased or high…
- Trial name
- NCT07734389
- Testing
- Comprehensive Clinical and Genetic Breast Cancer Risk Assessment
- Where
- Slovenia
- Volunteers
- 291 people
- Sponsor
- Institute of Oncology Ljubljana
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)
Cardiovascular Diseases, Hypertrophic Cardiomyopathy (HCM)
AI-enabled Screening and Diagnosis of Cardiomyopathies Using Coronary CTA
The goal of this observational and diagnostic study is to develop and validate an artificial intelligence assisted approach for coronary computer tomography angiography-(CCTA)-based screening and diagnosis of cardiomyopathies in…
- Conditions
- Cardiovascular Diseases, Hypertrophic Cardiomyopathy (HCM), Dilated Cardiomyopathy (DCM), Restrictive Cardiomyopathy
- Trial name
- Atlantis (NCT06748261)
- Testing
- CCTAI model
- Volunteers
- 5,000 people, healthy volunteers welcome
- Sponsor
- Shanghai Zhongshan Hospital
Prostate Cancer
Improving Engagement From Underserved Communities With Prostate Cancer Genetics Services
Earlier work explored barriers and facilitators to accessing prostate cancer screening, particularly in underserved communities, and provided valuable insights to build upon.
- Trial name
- INCLUDE PC (NCT07407686)
- Testing
- Surveys, Semi-structured interviews and focus groups
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Royal Marsden NHS Foundation Trust
IVF
Non-Invasive Preimplantation Genetic Screening for Aneuploidies and Clinical Outcomes in Egg Donation Patients
Preimplantation genetic testing for aneuploidies (PGT-A) is commonly used in IVF but requires embryo biopsy and shows limited benefit in egg donation cycles.
- Trial name
- niPGTAdon (NCT07364526)
- Where
- Spain
- Volunteers
- 164 people, healthy volunteers welcome
- Sponsor
- Instituto Bernabeu
Cystic Fibrosis Lung Disease
Longitudinal Observational Study on the Course of Cystic Fibrosis Lung Disease in Patients Following Newborn Screening
The purpose of this study is to further characterize early CF lung disease in newborns, infants and toddlers with cystic fibrosis (CF).
- Trial name
- TRACK-CF (NCT02270476)
- Where
- 4 sites in Germany
- Volunteers
- 200 people
- Sponsor
- Heidelberg University
Breast Cancer, Benign Breast Condition
ATUSA Ultrasound Diagnostic Imaging for Breast Lesions Evaluation (AUDIBLE) - iSono Health
AUDIBLE is a multi-site, clinical study conducted in the United States aimed at gathering data on 3D Automated Breast Ultrasound imaging using the iSono Health ATUSA system.
- Conditions
- Breast Cancer, Benign Breast Condition, Breast Fibroadenoma, Breast Neoplasms
- Trial name
- AUDIBLE (NCT07505797)
- Testing
- ATUSA 3D Automated Breast Ultrasound System
- Where
- 2 sites in United States
- Volunteers
- 800 people
- Sponsor
- iSono Health, Inc.
Li-Fraumeni Syndrome, Neoplasms
Clinical and Genetic Studies of Li-Fraumeni Syndrome
Background: Li-Fraumeni syndrome (LFS) is a genetic condition that increases the risk for some types of cancer. LFS may lead to cancer of the bone or connective tissue, breast, and brain.
- Conditions
- Li-Fraumeni Syndrome, Neoplasms, Tp53 Mutations
- Trial name
- NCT01443468
- Where
- 2 sites in United States
- Volunteers
- 5,000 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
Pancreatic Ductal Adenocarcinoma, Hereditary Diseases
Pancreatic Cancer Screening in a Population at High Risk
Pancreatic cancer is one of the diseases with the worst prognosis, which is mainly due to the initial asymptomatic prognosis. Unfortunately, the incidence of this disease in the Czech Republic is still increasing.
- Conditions
- Pancreatic Ductal Adenocarcinoma, Hereditary Diseases, Pancreatitis, Chronic
- Trial name
- ScrePan (NCT06330441)
- Testing
- endoscopic ultrasonography, magnetic resonance, laboratory examination
- Where
- Czechia
- Volunteers
- 700 people
- Sponsor
- Masaryk Memorial Cancer Institute
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
Tachycardia
Molecular Autopsy in Young Individuals With Sudden Cardiac Death
The goal of this observational study is to create and test a pilot workflow for molecular autopsy (genetic testing after death) in children and adults aged 1 to 50 years who died suddenly from an unexplained cause and were…
- Trial name
- NCT07849738
- Testing
- Molecular autopsy by whole exome sequencing, Cascade genetic screening by targeted Sanger sequencing
- Where
- Brazil
- Volunteers
- 200 people
- Sponsor
- University of Sao Paulo
Cystic Fibrosis
Prospective Analysis of Urine LAM to Eliminate NTM Sputum Screening
This is a prospective, single-center, nonrandomized observational study to investigate the utility of urine lipoarabinomannan (LAM) as a test to identify individuals at very low risk for having a sputum culture positive for…
- Trial name
- PAINLESS (NCT04579211)
- Testing
- urine lipoarabinomannan (LAM)
- Where
- United States
- Volunteers
- 220 people
- Sponsor
- Jerry A. Nick, M.D.
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
Genetic Disease
Prenatal Cell-free DNA Screening in Pregnancies With Diverse Genetic Risk Profiles Utilizing Targeted and Whole-exome Sequencing
This multicenter study aims to recruit a minimum of 1,600 pregnant women, encompassing individuals with varying levels of genetic risk.
- Trial name
- NCT07106853
- Where
- 2 sites in China, Hong Kong
- Volunteers
- 1,600 people
- Sponsor
- Women's Hospital School Of Medicine Zhejiang University
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
Alpha 1-antitrypsin Deficiency (AATD)
Screening for Alpha-1 Antitrypsin Deficiency in Patients With Airway Obstruction
Brief Summary: This study aims to find out if a genetic condition called Alpha-1 Antitrypsin Deficiency (AATD) is more common in people who have shortness of breath and signs of airway obstruction on their breathing tests.
- Trial name
- AATD-SAO (NCT07152834)
- Testing
- Blood Sampling
- Where
- Turkey (Türkiye)
- Volunteers
- 734 people, healthy volunteers welcome
- Sponsor
- Muğla Sıtkı Koçman University
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