Clinical trials: Neonatal Screening, open to volunteers
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)
Preterm Birth
The Social Determinants of Health Screening and Referral Project
Up to a quarter of the families with preterm infants have unmet social needs, such as housing or job insecurity, which represent adverse social determinants of health (SDOH).
- Trial name
- NCT06582147
- Testing
- Implementation of social determinants of health screening and referral
- Where
- 7 sites in United States
- Volunteers
- 882 people
- Sponsor
- University of Massachusetts, Worcester
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)
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
Cholestasis in Newborn, Biliary Atresia
The Dirty Nappy Study
This observational study evaluates whether a machine-learning algorithm, a computer program that learns patterns from data, can accurately diagnose cholestasis in newborns.
- Conditions
- Cholestasis in Newborn, Biliary Atresia, Neonatal Cholestasis
- Trial name
- NCT07697872
- Where
- United Kingdom
- Volunteers
- 5,350 people, healthy volunteers welcome
- Sponsor
- Birmingham Women's and Children's NHS Foundation Trust
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
Congenital Hyperinsulinism (CHI)
Umbilical Cord Glucose
Congenital hyperinsulinism (HI) causes persistent neonatal hypoglycemia that, if untreated, can lead to neurodevelopmental impairments (NDI) such as cognitive delays, cerebral palsy, epilepsy, and blindness.
- Trial name
- Save The Brain (NCT07795047)
- Testing
- For the screening, the interventions will be glucose measurements (and possibly G-BOBH), while follow-up assessments will include Bayley testing, EEG, and MRI.
- Volunteers
- 50 people
- Sponsor
- Odense University Hospital
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
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
Neonatal Congenital Heart Disease
Optimization of Two-Indicator Screening Protocol for Neonatal Congenital Heart Disease at High Altitude
This is a prospective observational screening study. First, researchers will optimize a two-indicator screening protocol for neonatal congenital heart disease (NCHD) adapted to high-altitude regions and evaluate its screening…
- Trial name
- NCT07901998
- Volunteers
- 6,300 people, healthy volunteers welcome
- Sponsor
- Children's Hospital of Fudan University
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
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
Congenital Heart Disease in Children, Neurodevelopmental Disorders
Feasibility and Efficiency of Screening for Neurodevelopmental Disorders by an Advanced Practice Nurse in Children With Congenital Heart Disease
Feasibility and efficiency of Screening for Neurodevelopmental Disorders by an Advanced Practice Nurse in Children aged 1 to 5 with Congenital Heart Disease
- Trial name
- NEURODEV-IPA (NCT06431269)
- Testing
- Screening for neurodevelopmental disorders by an advanced practice nurse
- Where
- 3 sites in France
- Volunteers
- 270 people
- Sponsor
- University Hospital, Montpellier
Congenital Heart Disease (CHD), Artifical Intelligence
AI-Assisted Versus Independent Heart Sound Screening for Congenital Heart Disease in Children
This is a prospective, school-based, cluster-randomized controlled trial conducted in Qinghai Province, China. The study will evaluate whether artificial intelligence (AI) can help primary care physicians identify congenital…
- Conditions
- Congenital Heart Disease (CHD), Artifical Intelligence, Screening, Cardiac Auscultation
- Trial name
- NCT07830251
- Testing
- AI-Assisted Cardiac Auscultation
- Where
- China
- Volunteers
- 10,000 people, healthy volunteers welcome
- Sponsor
- Kun Sun
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