Clinical trials: Neonatal Screening
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
Danon Disease, Fabry Disease
Precision Diagnosis and Risk Stratification of Rare Cardiomyopathies Based on Novel Cardiac Magnetic Resonance Techniques
What is this study about? This research is focused on improving the care for people with rare heart muscle diseases, known as rare cardiomyopathies.
- Conditions
- Danon Disease, Fabry Disease, Cardiac Amyloidosis, Noonan Syndrome
- Trial name
- NCT07336394
- Where
- China
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Chinese Academy of Medical Sciences, Fuwai Hospital
Down Syndrome, Obstructive Sleep Apnea
Using Personal Mobile Technology to Identify Obstructive Sleep Apnea in Children With Down Syndrome (UPLOAD)
This study aims to see if mobile video clips (smartphone recordings) can be used to screen children with Down syndrome to identify those at highest risk of obstructive sleep apnea (OSA), so they can be prioritized for an earlier…
- Conditions
- Down Syndrome, Obstructive Sleep Apnea, Child
- Trial name
- UPLOAD (NCT04022460)
- Testing
- Video clip assessment, Polysomnography (sleep study), Educational webinar
- Where
- Canada
- Volunteers
- 141 people
- Sponsor
- Children's Hospital of Eastern Ontario
Down Syndrome, Chromosome Abnormalities
Down Syndrome - Comparison of Screening Methods in the 1st and 2nd Trimesters
Too much or too little genetic information (chromosome material) can cause abnormal development of the fetus or death. Each year approximately 2.5 million pregnant women are screened for Down Syndrome using invasive screening…
- Trial name
- NCT00006445
- Testing
- Ultrasound, Serum screen
- Where
- 10 sites in United States
- Volunteers
- 38,000 people, healthy volunteers welcome
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Parents of Healthy Newborns
Surveying Parents About Genome Screening of Newborns
A 10 minute baseline survey will be administered to parents of healthy newborn infants while in the hospital after delivery at Brigham and Women's Hospital, to be followed by a 25 minute survey 3-24 months later.
- Trial name
- BabySeq (NCT01736501)
- Testing
- Genetics education at baseline, Hypothetical genomic scenarios at follow-up
- Where
- United States
- Volunteers
- healthy volunteers welcome
- Sponsor
- Brigham and Women's Hospital
Neonatal Jaundice
mHealth to Screen for Neonatal Jaundice in Low-resource Mexican Settings: a Feasibility Study
Neonatal jaundice (NNJ) is a common condition in newborns during the first week of life due to increased levels of bilirubin. Usually, it resolves without consequences after 7 to 10 days.
- Trial name
- JAUND-EASE (NCT06073444)
- Testing
- Picterus JP
- Where
- Mexico
- Volunteers
- 611 people
- Sponsor
- Norwegian University of Science and Technology
Morquio Syndrome A, Maroteaux Lamy Syndrome
Screening an Orthopedic Population for Mildly-affected Individuals With Morquio Syndrome A and Maroteaux-Lamy Syndrome
The purpose of this study is to identify patients with Morquio syndrome type A (MPS IVA) and Maroteaux-Lamy syndrome (MPS VI) who may have been missed or misdiagnosed due to atypical clinical features, a milder course, and/or…
- Conditions
- Morquio Syndrome A, Maroteaux Lamy Syndrome, MPS IVA, MPS VI
- Trial name
- NCT01961518
- Where
- United States
- Volunteers
- 17 people
- Sponsor
- Greenwood Genetic Center
Brugada Syndrome (BrS), Breast Cancer Females
Analysis of the Presence and Cardiac Functional Effects of Anti-NaV1.5 Autoantibodies in Patients With Metastatic Tumors
The overall aim of this study is to identify and characterize anti-NaV1.5 autoantibodies in patients with metastatic breast and colorectal cancer.
- Conditions
- Brugada Syndrome (BrS), Breast Cancer Females, Colon Cancer, ECG Abnormalities
- Trial name
- NCT07364656
- Testing
- ECG
- Where
- Italy
- Volunteers
- 196 people
- Sponsor
- IRCCS Policlinico S. Donato
Pompe's Disease
Feasability and Interest of Screening for Infantile Pompe's Diseases at Birth
Given the 100 fold increase of the incidence of Pompe's disease in Western French Guiana, the objective of the present study is to implement systematic screening in newborns in French Guiana in order to start treatment before the…
- Trial name
- DEPIPOMP1 (NCT02904395)
- Testing
- observational (no intervention)
- Volunteers
- 3,413 people
- Sponsor
- Centre Hospitalier de Cayenne
Congenital Heart Disease
The Impact of Implementing a Universal Newborn Screening for Critical Congenital Heart Disease
The purpose of this study is to evaluate the impact of implementing a universal pulse oximeter screening as a way to detect critical congenital heart disease in otherwise well-appearing newborns.
- Trial name
- CCHD (NCT01749059)
- Where
- United States
- Volunteers
- 6,147 people
- Sponsor
- Pediatrix
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
Enterocolitis, Necrotizing, Premature Infant
NEC Screening Abdominal Radiograph vs Bowel Ultrasound in Preemies
The overall primary objective is to establish the feasibility and pilot the design and delivery of a diagnostic randomized controlled trial (RCT) of BUS (bowel ultrasound) for NEC evaluation which will lead to a successful…
- Trial name
- NCT03963011
- Testing
- Bowel Ultrasound
- Where
- United States
- Volunteers
- 56 people
- Sponsor
- Children's Mercy Hospital Kansas City
Thalassemia
Development of THALEA Kit and Its Impact on Knowledge, Attitude, and Intention for Premarital Thalassemia Screening
Thalassemia, a common genetic disease, is often overlooked compared to infectious diseases like HIV, despite its significant effects for families planning to have children.
- Trial name
- THALEA (NCT06800495)
- Testing
- THALEA (Thalassemia Education and Awareness) Kit, Basic thalassemia and family health education
- Where
- Malaysia
- Volunteers
- 148 people, healthy volunteers welcome
- Sponsor
- Universiti Teknologi Mara
Cystic Fibrosis
Capsule Endoscopy in Cystic Fibrosis
Cystic Fibrosis patients continue to have bowel problems even after adequate pancreatic enzyme supplementation. There may be pathology of the lining of the bowel. Capsule endoscopy will be used to photograph the entire bowel.
- Trial name
- NCT00333957
- Where
- Israel
- Volunteers
- 200 people
- Sponsor
- Hadassah Medical Organization
Propionic/Methylmalonic Acidemias, Maple Syrup Urine Disease
Selective Screening of Children for Hereditary Metabolic Diseases by Tandem Mass Spectrometry in Kazakhstan
Inborn errors of metabolism (IEM) are not have specific clinical signs, they masquerade as other diseases, and are difficult to diagnose using only clinical manifestations or routine laboratory tests.
- Conditions
- Propionic/Methylmalonic Acidemias, Maple Syrup Urine Disease, Citrullinemia, Argininosuccinic Aciduria
- Trial name
- NCT05910151
- Testing
- Obtaining Dry Blood Spots From Healthy Newborns (Aged 1-7 Days), Obtaining Dry Blood Spots From Healthy Children Aged 8 Days - 7 Years, Obtaining Dry Blood Spots From Healthy Children Aged 8-18 Years
- Where
- Kazakhstan
- Volunteers
- 2,250 people, healthy volunteers welcome
- Sponsor
- West Kazakhstan Medical University
Pompe Disease
Screening Protocol to Evaluate Acid Alpha-Glucosidase (GAA) Activity and GAA Gene Mutations in Patients With Late Onset Pompe Disease
Pompe disease (also known as glycogen storage disease type II) is caused by a deficiency of a critical enzyme in the body called acid alpha-glucosidase (GAA).
- Trial name
- NCT00113035
- Where
- 5 sites in United States
- Volunteers
- 60 people
- Sponsor
- Genzyme, a Sanofi Company
Spinal Muscular Atrophy
Newborn Screening for Spinal Muscular Atrophy (SMA) - a Proof of Principle Study Using Anonymised Blood Spots.
Spinal muscular atrophy (SMA) is a motor neuron disorder caused by the absence of a functional survival of motor neuron 1, telomeric (SMN1) gene. Type I SMA, a lethal disease of infancy, accounts for the majority of cases.
- Trial name
- NCT05237544
- Where
- United Kingdom
- Volunteers
- 5,065 people, healthy volunteers welcome
- Sponsor
- Great Ormond Street Hospital for Children NHS Foundation Trust
Newborn, Hereditary Disease
The China Neonatal Genomes Project
The project will carry out the genetic testing of 100000 neonates in the next 5 years. The aim of the project is to construct the Chinese neonatal genome database, establish the genetic testing standard of neonatal genetic…
- Conditions
- Newborn, Hereditary Disease, Genetic Predisposition to Disease, Defect, Congenital
- Trial name
- CNGP (NCT03931707)
- Testing
- Genomic sequencing
- Where
- China
- Volunteers
- 100,000 people, healthy volunteers welcome
- Sponsor
- Children's Hospital of Fudan University
Cystic Fibrosis, Sensorineural Hearing Loss
Evaluation of the High Frequency Digit Triplet Test in Cystic Fibrosis
The purpose of this study is to find out whether the High Frequency Digit Triplet test can be used to screen patients with cystic fibrosis for hearing loss in conditions of health and pulmonary exacerbation.
- Trial name
- 3D-CF (NCT02252601)
- Testing
- HFDT test, Pure tone Audiogram
- Where
- 3 sites in United Kingdom
- Volunteers
- 388 people, healthy volunteers welcome
- Sponsor
- University of Nottingham
Pompe Disease
Newborn Screening Assay of Pompe's Disease
The purpose of this study is to test the feasibility of a newborn screen assay for Pompe disease
- Trial name
- NCT01758354
- Testing
- Pompe disease newborn screening
- Where
- Taiwan
- Volunteers
- 236,536 people, healthy volunteers welcome
- Sponsor
- National Taiwan University Hospital