Clinical trials: Neonatal 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
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
Gestational Diabetes Mellitus in Pregnancy, Pregnancy, High Risk
Early Detection of Gestational Diabetes Mellitus in Pregnancy
The purpose of this study is to develop an implementation protocol and test the feasibility and acceptability of a first trimester screening protocol for the early detection of gestational diabetes mellitus (GDM).
- Trial name
- NCT05388643
- Testing
- Enhanced First Trimester GDM Screening, Routine Gestational Diabetes Screening
- Where
- United States
- Volunteers
- 80 people
- Sponsor
- University of Massachusetts, Worcester
Hearing Loss, Bilateral or Unilateral, Otitis Media With Effusion in Children
Towards Implementation of Universal Newborn Hearing Screening in Kenya
The goal of this observational study is to learn if smartphone hearing screening devices can help to understand the role of ear infections in hearing loss in infants with HIV exposure.
- Trial name
- mTUNE-R33 (NCT07879326)
- Testing
- Hearing and ear health screening
- Where
- Kenya
- Volunteers
- 400 people, healthy volunteers welcome
- Sponsor
- University of Washington
Drug Safety
Use of Intranasal Midazolam to Reduce Stress and Procedural Pain in Premature Infants During Routine ROP Examination.
The goal of this study is to learn about the safety and effectiveness of intranasal midazolam in newborns and infants born prematurely, undergoing Retinopathy of Prematurity (ROP) screening.
- Trial name
- NCT06889376
- Testing
- Intranasal midazolam administration via the DART™ intranasal atomization device along with routine comfort care.
- Where
- Poland
- Volunteers
- 40 people
- Sponsor
- Polish Mother Memorial Hospital Research Institute
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
Arthrogryposis Multiplex Congenita (AMC)
Technical Feasibility Study of Ultrasound Muscle Imaging in Antenatal Ultrasound
The objective of the study is to evaluate the performance of muscle ultrasound sections on antenatal ultrasound between 21-24 amenorrhea weeks for the screening of muscle atrophy, in a sample of low-risk and high-risk pregnancies…
- Trial name
- FetUS (NCT06130592)
- Testing
- ultrasound muscle imaging technique
- Where
- 2 sites in France
- Volunteers
- 230 people, healthy volunteers welcome
- Sponsor
- University Hospital, Grenoble
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.
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
Congenital Heart Defect, Heart Defects, Congenital
Fetal Cardiac Anomalies at Anomaly Scan: Detection and Pregnancy Outcomes - Assiut 2026
Congenital heart defects are among the most common congenital anomalies and cause significant perinatal morbidity and mortality. Prenatal detection allows counseling, multidisciplinary planning and optimization of delivery.
- Trial name
- NCT07832851
- Volunteers
- 200 people
- Sponsor
- Assiut University
Sickle Cell Disease
Evaluation of an Information Management and Communication System for Population-wide Point-of-Care Infant Sickle Cell Disease Screening
A cluster randomized trial (CRT) of the novel sickle cell disease (SCD), M-health based SCD Information Management and Communication system SIMCS vs routine new born screening strategy in health care centres in Uganda to evaluate…
- Trial name
- SMICS (NCT07610239)
- Testing
- Sickle Cell Disease screening information management and communication system
- Where
- Uganda
- Volunteers
- 24,000 people, healthy volunteers welcome
- Sponsor
- Makerere University