Clinical trials: Neonatal Screening, open to volunteers
Sickle Cell Disease
Development and Evaluation of an Information Management System and Communication System for Population-wide Point-of-care Infant Sickle Cell Disease Screening
Although over 75% of children with sickle cell disease (SCD) are born in sub-Sahara where the disease highly contributes to under-5 mortality and causes life-long debilitation, evidence-based strategies to control SCD are not…
- Trial name
- SIMCS SCD (NCT06563440)
- Testing
- Digital app and information system
- Where
- 2 sites in United States, Uganda
- Volunteers
- 24,000 people, healthy volunteers welcome
- Sponsor
- Makerere University
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
Neonatal Pain, Retinopathy of Prematurity (ROP)
Fentanyl Intranasal for Retinopathy of Prematurity Screening in Preterm Infants
The goal of this clinical trial is to learn whether intranasal fentanyl (a pain medicine given as a nasal spray) can reduce pain and is safe to use during routine eye examinations for retinopathy of prematurity (ROP) in preterm…
- Conditions
- Neonatal Pain, Retinopathy of Prematurity (ROP), Pain Management, Infant, Premature
- Trial name
- FIREFLY (NCT07112430)
- Testing
- Fentanyl Citrate (Intranasal)
- Where
- Canada
- Volunteers
- 58 people
- Sponsor
- Marsha Campbell-Yeo
Severe Combined Immunodeficiencies (SCID)
Follow-up of the Cohort of Newborns Screened at Birth Using TREC Analysis
Since September 2025, neonatal screening for severe combined immunodeficiency (SCID) has been generalized in France. These genetic disorders, which are asymptomatic at birth, cause severe immunodeficiency, exposing infants to…
- Trial name
- DépisTrec (NCT07704281)
- Testing
- Data collection
- Where
- France
- Volunteers
- 450 people
- Sponsor
- Nantes University Hospital
Colorectal Cancer Screening, Lynch Syndrome
DYNAMICS-LYNCH：DNA Methylation Analysis in Stool for Screening of Lynch Syndrome-Associated Colorectal Cancer
Colorectal cancer (CRC) has high incidence and mortality rates globally. Over 1 million new cases are diagnosed annually, and about 600,000 people die from the disease each year.
- Trial name
- NCT06772844
- Testing
- fecal DNA methylation testing
- Volunteers
- 400 people
- Sponsor
- Sun Yat-sen University
Spinal Muscular Atrophy
Neonatal Spinal Muscular Atrophy (SMA) Screening
Parents or legal guardian of neonates who signed agreement will receive SMA screening test if their neonates are affected with SMA.
- Trial name
- SMA (NCT03217578)
- Testing
- SMA Newborn Screening
- Where
- Taiwan
- Volunteers
- 250,000 people, healthy volunteers welcome
- Sponsor
- Kaohsiung Medical University Chung-Ho Memorial Hospital
Cystic Fibrosis (CF)
TIDES 2.0: Prevalence and Longitudinal Course of Depression, Anxiety, and Behavior Problems in Children With Cystic Fibrosis Under 12 Years of Age
This is a longitudinal, observational epidemiological study designed to estimate the prevalence of depression, anxiety, and behavior problems in children ages 18 months through 11 years with cystic fibrosis (CF).
- Trial name
- TIDES 2 (NCT07048574)
- Where
- 13 sites in United States
- Volunteers
- 600 people
- Sponsor
- State University of New York at Buffalo
Splenomegaly, Splenectomy
Study of the Prevalence of Acid Sphingomyelinase Deficiency/Niemann Pick AB and B Disease in Patients With Diffuse Interstitial Lung Disease
The goal of this clinical trial is to optimise and facilitate screening for Acid SphingoMyelinase Deficiency (ASMD) disease, by evaluating acid sphingomyelinase activity and, where appropriate, LysoSM levels in a cohort of 200…
- Conditions
- Splenomegaly, Splenectomy, Thrombopenia, Interstitial Lung Disease (ILD)
- Trial name
- Niemann-PID (NCT06869499)
- Testing
- Blood sampling for dosage
- Where
- France
- Volunteers
- 200 people
- Sponsor
- Wladimir MAUHIN, Dr
Neurology, Aromatic Amino Acid Decarboxylase Deficiency
Newborn Screening and Early Diagnosis of AADC Deficiency in the Ligurian Population
Aromatic L-amino acid decarboxylase deficiency (AADC-D) is a rare genetic disorder that affects the production of neurotransmitters in the brain and can cause severe neurological and developmental problems.
- Conditions
- Neurology, Aromatic Amino Acid Decarboxylase Deficiency, Pediatric Neurological Disorder
- Trial name
- NBS3OMD22 (NCT07877714)
- Where
- 10 sites in Italy
- Volunteers
- 16,000 people
- Sponsor
- Istituto Giannina Gaslini
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)
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)
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
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
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
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