Clinical trials: Neonatal Screening
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
Hearing Loss, Sensorineural, Cystic Fibrosis
A Study of Web and Tablet-based Interactive Audiometry in Adults With CF
Adults with CF regularly receive anti-infective therapy that can result in impaired hearing. Recent studies have identified that up to 50% of adults with CF have hearing loss with resulting significant impact on quality of life.
- Trial name
- NCT04400955
- Testing
- Audiometry tablet diagnostic tool and web-based test
- Where
- United Kingdom
- Volunteers
- 156 people
- Sponsor
- Royal Brompton & Harefield NHS Foundation Trust
Retinopathy of Prematurity
Feasibility of Nurse-led Retinal Imaging for Retinopathy of Prematurity Screening Employing the Optos California
Retinopathy of prematurity (ROP) is a preventable cause of blindness in babies who are born early i.e. premature. Internationally, there is a shortage of skilled ophthalmologists willing and able to screen for ROP.
- Trial name
- N_ORS (NCT06063863)
- Testing
- Nurse led screening with Optos ultra-widefield retinal-imaging device
- Where
- United Kingdom
- Volunteers
- 52 people
- Sponsor
- University of Nottingham
Hypospadias
Worldwide Yearly Screening for Hypospadias
The purpose of this study is to recruit approximately 20 male participants who have a history of repaired hypospadias to test the feasibility and acceptability of the Care Planning Tool within the Worldwide Yearly Screening for…
- Trial name
- WYSH (NCT06966375)
- Testing
- WYSH Web Application
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- University of Wisconsin, Madison
Hereditary Hemorrhagic Telangiectasia
Ultra-low-dose Chest CT for HHT
This study aims to develop a novel ultra-low dose chest CT technology for use in Hereditary Hemorrhagic Teleangiectasia (HHT) patients and to determine the lowest possible radiation dose that is achievable without sacrificing the…
- Trial name
- NCT04874558
- Testing
- Ultra-low dose chest CT
- Where
- United States
- Volunteers
- 3 people
- Sponsor
- Mayo Clinic
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
Bleeding Disorder
Screening for Bleeding Disorders in Children
The investigators try to improve the screening of bleeding disorders in children by identifying symptoms, laboratory abnormalities and clinical scores discriminating patients congenital bleeding disorders in order to create a…
- Trial name
- NCT05214300
- Where
- France
- Volunteers
- 96 people
- Sponsor
- University Hospital, Montpellier
Thalassemia Trait, Thalassemia; Mixed
Thalassemia Screening by Third Generation Sequencing
Test globin gene in participants
- Trial name
- NCT05552690
- Testing
- blood draw
- Where
- Thailand
- Volunteers
- 20 people
- Sponsor
- Chiang Mai University
Secondary Pulmonary Arterial Hypertension, Sickle Cell Disease
Pulmonary Hypertension in Patients With Sickle Cell Disease in Nigeria
This study will explore how people with sickle cell disease (SCD) develop a complication called pulmonary hypertension (PHTN), a serious disease in which blood pressure in the lungs is higher than normal.
- Conditions
- Secondary Pulmonary Arterial Hypertension, Sickle Cell Disease, Pulmonary Hypertension
- Trial name
- NCT00367523
- Where
- Nigeria
- Volunteers
- 308 people
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Trisomy 13, Trisomy 18
Prenatal Non-invasive Aneuploidy Test Utilizing SNPs Trial
This prospective blinded study will assess the diagnostic capability of an informatics enhanced SNP based technology (Parental Support) to identify pregnant women who are carrying a fetus with an aneuploidy from fee floating DNA…
- Conditions
- Trisomy 13, Trisomy 18, Trisomy 21, Aneuploidy
- Trial name
- PreNATUS (NCT01545674)
- Testing
- Blood Draw
- Where
- 29 sites in United States, Canada and 4 more
- Volunteers
- 937 people, healthy volunteers welcome
- Sponsor
- Natera, Inc.
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
Li-Fraumeni Syndrome
Screening With Whole Body MRI For Detection Of Primary Tumors In Children And Adults With Li-Fraumeni Syndrome (LFS) And Other Cancer Predisposition Syndromes
This study is evaluating Whole Body MRI as a possible screening tool to diagnose cancer for people with LFS and other inherited cancer predisposition syndromes.
- Trial name
- NCT02950987
- Testing
- Whole Body MRI
- Where
- 3 sites in United States
- Volunteers
- 150 people
- Sponsor
- Dana-Farber Cancer Institute
Anemia, Sickle Cell Disease
Screening for Renal Complications in Children and Young Adults With Major Sickle Cell Disease
Sickle cell disease is the subject of targeted neonatal screening (carried out when one of the two parents is from an endemic country - sub-Saharan Africa, South-East Asia, Central America, the Caribbean) during the Guthrie test.
- Trial name
- NEPHRO-DREPA (NCT05211037)
- Testing
- Kidney function assessment
- Where
- France
- Volunteers
- 18 people
- Sponsor
- Centre Hospitalier Universitaire de Nice
Chlamydia Trachomatis Infection, Gonorrhea
Check it: A New Approach to Controlling Chlamydia Transmission in Young People
This study, named "Check it," is a bundled program for African American (AA) men ages 15-24 that includes community testing for chlamydia and gonorrhea, expedited treatment for subjects who test positive and their female sexual…
- Trial name
- NCT03098329
- Testing
- Ct/GC screening
- Where
- United States
- Volunteers
- 1,907 people, healthy volunteers welcome
- Sponsor
- Tulane University
Beta Thalassemia
Genetic Variants Affecting the Clinical Severity of Beta Thalassemia
β-thalassemia is one of the most common single gene disorder in Southern China. The phenotypic severity of beta thalassemia widely varies from mild to severe forms.
- Trial name
- NCT04918056
- Testing
- Hematological Analysis and Genetical Analysis
- Where
- China
- Volunteers
- 1,300 people
- Sponsor
- Nanfang Hospital, Southern Medical University
Primary Immunodeficiency Diseases
Developing a Screening Tool for Primary Immunodeficiency Disease (PID) in Pakistan
Case-control diagnostic accuracy study with 130 potential pediatric PID+ (primary immunodeficiency) patients, and 100 age-matched, healthy controls (PID-).
- Trial name
- NCT05758506
- Testing
- Primary Immunodeficiency (PID) Rapid Diagnostic Test (RDT)
- Where
- Pakistan
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- PATH
Angelman Syndrome, Prader-Willi Syndrome
Development of a Newborn Screening Assay for Angelman Syndrome and Prader-Willi Syndrome
The overall purpose of this project is to establish the capability of screening for Angelman syndrome (AS) and Prader-Willi syndrome (PWS) in public health newborn screening (NBS) programs, with an aim of developing and…
- Trial name
- NCT05783791
- Testing
- Newborn Screening Assay
- Where
- United States
- Volunteers
- 11 people, healthy volunteers welcome
- Sponsor
- University of Wisconsin, Madison
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
Spinal Muscular Atrophy (SMA)
Service Evaluation for Newborn Screening for Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA) is a disease that causes progressive muscle weakness. There are many types- the most severe and most common, type 1, affects very young babies, and is life-threatening if untreated.
- Trial name
- SENS (NCT07888868)
- Where
- 3 sites in United Kingdom
- Volunteers
- 750,000 people
- Sponsor
- University of Oxford
Sickle Cell Disease
The Brigance Assessment Of Individual Neurodevelopment In Young Children With Sickle Cell Disease- 2
A preliminary study was conducted involving 88 three-year-old children with sickle cell disease (SCD) who were followed at the St. Jude Children's Research Hospital Sickle Cell Center.
- Trial name
- NCT01123863
- Testing
- Brigance Preschool Screen -II
- Where
- United States
- Volunteers
- 248 people, healthy volunteers welcome
- Sponsor
- St. Jude Children's Research Hospital