Clinical trials: Neonatal Screening
Anemia, Sickle Cell
Specifying Interventions From the Sickle Cell Disease Implementation Consortium (SCDIC)
The goal of this study is to specify the interventions, implementation strategies and control conditions from the Sickle Cell Disease Implementation Consortium (SCDIC) using a mixed-methods approach to study site materials and…
- Trial name
- NCT03380351
- Testing
- SCDIC interventions
- Where
- United States
- Volunteers
- 17 people, healthy volunteers welcome
- Sponsor
- Washington University School of Medicine
Fabry Disease
Fabry Screening Study
To determine if patients with a deficiency of alpha-galactosidase A are at-risk for cardiac complications that commonly occur in the general population
- Trial name
- NCT01019629
- Where
- United States
- Volunteers
- 2,724 people, healthy volunteers welcome
- Sponsor
- Baylor Research Institute
Cholestasis in Newborn Infant, Biliary Atresia
Dry Blood Spot Screening Test for Neonatal Cholestasis Patients
Cholestatic jaundice with multitude of causes affects approximately 1 in every 2,500 infants. Of the many conditions that cause neonatal cholestasis, the most commonly identifiable are biliary atresia (BA) (25%-35%).
- Trial name
- DBS-SCReNC (NCT03667534)
- Testing
- Dry blood spot screening
- Where
- Taiwan
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- National Taiwan University Hospital
Sudden Cardiac Death, Sudden Cardiac Arrest
Low QRS Voltages in Young Healthy Individuals and Athletes
There is some limited evidence that reduced size of electrical complexes/traces of the heart on the electrocardiogram (ECG) may be associated with scarring in the heart muscle, which may predispose to serious life-threatening…
- Conditions
- Sudden Cardiac Death, Sudden Cardiac Arrest, Sudden Cardiac Death Due to Cardiac Arrhythmia, Arrhythmogenic Right Ventricular Cardiomyopathy
- Trial name
- NCT05799833
- Testing
- Cardiovascular magnetic resonance scan - 3T scanner (Siemens Vida)
- Where
- United Kingdom
- Volunteers
- 240 people, healthy volunteers welcome
- Sponsor
- Imperial College London
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
Neonatal Jaundice
Evaluation of a Smartphone-based Screening Tool for Neonatal Jaundice in a Ugandan Population
The general objective of this study is to evaluate the accuracy of a novel smartphone application that estimates bilirubin levels in newborns at HICH Mbarara.
- Trial name
- NCT05365399
- Testing
- smartphone-based screening tool for neonatal jaundice
- Where
- Uganda
- Volunteers
- 180 people, healthy volunteers welcome
- Sponsor
- Picterus AS
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
Infant Behavior, Pain, Acute
Multiple Sensory Interventions On Infants' Pain and Physiological Distress During Neonatal Screening Procedures
The study purposes are to compare the effects of different combinations of sensory interventions on newborns' pain responses, physiological distress (heart rate and oxygen saturation), and crying event during heel stick…
- Conditions
- Infant Behavior, Pain, Acute, Physiological Stress, Breast Milk
- Trial name
- MSI (NCT04851353)
- Testing
- GT+VC, Smell, Taste
- Where
- Taiwan
- Volunteers
- 250 people, healthy volunteers welcome
- Sponsor
- National Defense Medical Center, Taiwan
Cystic Fibrosis
Perceptions of the CF Screening Protocol Incorporating NGS
Newborn bloodspot screening (from now on referred to as screening) for cystic fibrosis (CF) became part of the national screening programme in 2007. Screening for CF is also well established internationally.
- Trial name
- NCT06299566
- Where
- United Kingdom
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- King's College London
Neonatal Jaundice
Clinical Validation of the Screening Tool Picterus JP Using Different Smartphones
The overall aim of this study is to verify the quality of our internal developed camera validation systems and allow the use of Picterus JP on all smartphones.
- Trial name
- allphones (NCT05955144)
- Testing
- Picterus JP
- Where
- Norway
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Picterus AS
Spinal Muscular Atrophy (SMA), Spinal Muscular Atrophy Type I
Psychological Evaluation of the Parental Experience of Newborn Screening for Infantile Spinal Muscular Atrophy in the Grand Est and Nouvelle-Aquitaine Regions
The systematic inclusion of spinal muscular atrophy (SMA) in France's neonatal genetic screening (NGS) program, scheduled for September 2025, represents a major milestone in public health.
- Trial name
- PSYSMA (NCT07208903)
- Testing
- focus group discussions, Interview with the psychologist
- Volunteers
- 36 people, healthy volunteers welcome
- Sponsor
- University Hospital, Strasbourg, France
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)
Hearing Loss, Newborn Morbidity
Proactive Counselling Towards Follow-ups in Newborn Hearing Screening
The study aims to investigate if proactive parental educating and counselling can minimize loss to follow-ups of parents whose infant fail newborn hearing screening.
- Trial name
- NCT04988061
- Testing
- counselling
- Where
- Thailand
- Volunteers
- healthy volunteers welcome
- Sponsor
- Prince of Songkla University
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
Biliary Atresia, Neonatal Cholestasis
Development and Validation of a Screening Score for the Biliary Atresia in Infantile Cholestasis: A Prospective Study
Better survival and prognosis of biliary atresia (BA) depend on early diagnosis and timely Kasai portoenterostomy. Identifying BA from other causes of infantile cholestasis at early stage of the disease still remains a major…
- Conditions
- Biliary Atresia, Neonatal Cholestasis, Infantile Hepatitis Syndrome
- Trial name
- NCT03842150
- Testing
- biliary atresia screen score
- Where
- China
- Volunteers
- 400 people, healthy volunteers welcome
- Sponsor
- Xinhua Hospital, Shanghai Jiao Tong University School of Medicine
Genetic Disorder, Fertility Disorders
Retrospective Study on Clinical Results of Preimplantation Genetic Screening at Different Embryo Stage
Preimplantational genetic screen (PGS) is tool for diagnosis of embryo chromosome abnormality before transfer. Under this tool, patients with a family history of genetic disease or special genetic disease could avoid to produce…
- Conditions
- Genetic Disorder, Fertility Disorders, Reproductive Disorder
- Trial name
- NCT03065114
- Testing
- PGS
- Volunteers
- 500 people, healthy volunteers welcome
- Sponsor
- Yeh
Autosomal Aneuploidy
Feasibility Study of a New Screening Program for Major Aneuploidies (T21, T18, T13) in the Emilia-Romagna Region (SAPERER)
The study is promoted by the Emilia Romagna Region which identified in the Bologna AUSL the coordinating center (Unità Operativa Complessa Laboratorio Unico Metropolitano, LUM, Maggiore Hospital).
- Trial name
- SAPERER (NCT04437992)
- Testing
- NIPT
- Where
- Italy
- Volunteers
- 7,000 people, healthy volunteers welcome
- Sponsor
- Azienda Usl di Bologna
Infant, Newborn
Whole Exome Screening of Newborns
The aim of the study is to obtain the initial experience of the inclusive genetic screening of newborn. Two groups of newborns born in RCOGP will be enlisted to the study: 1.
- Trial name
- NCT05325749
- Testing
- Screening, Family history record, Questionnaire survey
- Where
- Russia
- Volunteers
- 7,000 people, healthy volunteers welcome
- Sponsor
- Federal State Budget Institution Research Center for Obstetrics, Gynecology and Perinatology Ministry of Healthcare
Hereditary Hemorrhagic Telangiectasia, Dental Diseases
Nationwide Awareness Campaign and Call for Dental Screening for HHT in Germany
HHT is a relative rare autosomal dominant inherited disorder of the fibrovascular tissue. Diagnosis of HHT is often delayed for decades (Pierucci 2012).
- Trial name
- NCT03549949
- Where
- Germany
- Volunteers
- 411 people, healthy volunteers welcome
- Sponsor
- University Hospital, Essen
Hip Dysplasia
Ultrasound Screening for Developmental Dysplasia of the Hip in Newborns
The aim of the randomized controlled trial was to determine whether the addition of a general or of a selective ultrasound screening program resulted in more appropriate criteria for treatment and a reduced prevalence of late DDH…
- Trial name
- NCT01818934
- Testing
- hip ultrasound
- Where
- Norway
- Volunteers
- 11,925 people, healthy volunteers welcome
- Sponsor
- University of Bergen