Clinical trials: Neonatal Screening
Sickle Cell Disease
Screening Patients With Sickle Cell Disease for Kidney Damage
This study aims to study the temporal course of sickle nephropathy and assess novel biomarkers that can predict patients prone to nephropathy.
- Trial name
- NCT02239016
- Where
- 4 sites in United States
- Volunteers
- 320 people
- Sponsor
- Children's Hospital Medical Center, Cincinnati
Oral Mucosal Disease
Clinical Research Core Dental Screening Protocol
This study will screen patients for eligibility in studies sponsored by the Craniofacial Genetics Section (HCGS), the Clinical Research Core (CRC), and other branches located within the National Institute of Dental and…
- Trial name
- NCT00090818
- Where
- United States
- Volunteers
- 441 people, healthy volunteers welcome
- Sponsor
- National Institute of Dental and Craniofacial Research (NIDCR)
Amyloidosis, Aortic Valve Stenosis
Screening for Amyloidosis Before Aortic Valve Elective Replacement
Previous studies detected that up to 15% of patients undergoing aortic valve replacement (AVR) for degenerative aortic stenosis have concomitant transthyretin amyloidosis (ATTR) cardiomyopathy (Castano, 2017).
- Trial name
- SAVER (NCT04869631)
- Testing
- The outcome of an intervention is not evaluated, but aortic stenosis and additional amyloidosis are compared.
- Where
- Germany
- Volunteers
- 1,000 people
- Sponsor
- Charite University, Berlin, Germany
Neonatal Screening
Parent Education and Choice About Newborn Screening and Bloodspot Retention
To address the content, timing, efficacy, and impact of prenatal education about newborn screening generally and sample retention specifically.
- Trial name
- NCT02676245
- Testing
- Viewing Newborn Screening movie, Viewing Residual Dried Blood Spot movie
- Volunteers
- 664 people
- Sponsor
- University of Utah
Prostatic Neoplasm, Prostate Cancer
Prostate Cancer Genetic Risk Evaluation and Screening Study
This study aims to define the natural history of men at high genetic risk for prostate cancer on the basis of specific germline genetic mutations, family history, or Black/African ancestry and evaluate the utility of prostate MRI…
- Conditions
- Prostatic Neoplasm, Prostate Cancer, BRCA2 Mutation, BRCA1 Mutation
- Trial name
- PROGRESS (NCT05129605)
- Testing
- Prostate cancer screening
- Where
- United States
- Volunteers
- 400 people
- Sponsor
- Massachusetts General Hospital
Down Syndrome (Trisomy 21), Edwards Syndrome (Trisomy 18)
Non-Invasive Screening for Fetal Aneuploidy: A New Maternal Plasma Marker
Validate that circulating cell free fetal nucleic acid can be used to identify a direct marker for fetal aneuploidy, particularly fetal Down Syndrome (DS), that is better than surrogate markers.
- Conditions
- Down Syndrome (Trisomy 21), Edwards Syndrome (Trisomy 18), Patau Syndrome (Trisomy 13), Turner Syndrome
- Trial name
- NCT00770458
- Where
- 7 sites in United States
- Volunteers
- 1,000 people
- Sponsor
- Sequenom, Inc.
Hypercholesterolemia, Hypercholesterolemia, Familial
Evaluating the Efficacy of Pediatric Lipid Screening Alerts
The purpose of the study is to evaluate prospectively the impact of different system alerts on the prescription of lipid panels to pediatric Geisinger patients (9-11 years old), as per the now-universal guidelines.
- Conditions
- Hypercholesterolemia, Hypercholesterolemia, Familial, Hypercholesteremia in Children, Hyperlipidemia in Children
- Trial name
- NCT04118348
- Testing
- Best Practice Alert, Health Maintenance Topic
- Where
- United States
- Volunteers
- 13,340 people
- Sponsor
- Geisinger Clinic
Li-Fraumeni Syndrome
Magnetic Resonance Imaging Screening in Li Fraumeni Syndrome
This study is aimed at exploring the use of whole body MRI for early cancer detection in TP53 mutation carriers and population controls, with the hypothesis that more cancers will be detected in the TP53 mutation carrier group.
- Trial name
- SIGNIFY (NCT01737255)
- Testing
- Whole body MRI, Psychological questionnaires
- Where
- United Kingdom
- Volunteers
- 88 people, healthy volunteers welcome
- Sponsor
- Institute of Cancer Research, United Kingdom
Left Ventricular Hypertrophy
Belgian Screening Project for the Detection of Anderson-Fabry Disease in Hypertrophic Cardiomyopathy
The purpose of this study is to determine the prevalence of Fabry mutations in patients with left ventricular hypertrophy (moderate to severe), as measured by echocardiography.This study is a screening study
- Trial name
- NCT01198899
- Testing
- blood sampling
- Where
- 9 sites in Belgium
- Volunteers
- 540 people
- Sponsor
- University Hospital, Ghent
Congenital Heart Disease
Hepatitis C in Adults Who Underwent Congenital Heart Surgery Before Screening
This is a retrospective chart review. We hypothesize that patients who have undergone congenital heart surgery, prior to screening of blood products have a significant risk of hepatitis C infection and all such patients would…
- Trial name
- NCT00359099
- Where
- United States
- Volunteers
- 1,000 people
- Sponsor
- Emory University
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
Primary Immunodeficiency Diseases
Evaluation of an IgG Deficiency Rapid Screening Test: A Performance Study With Primary Immunodeficiency (PID) Patients in Tunisia
To evaluate the usability and utility of the device, % agreement between the PID-RDT and the referent assay (serum/plasma), and % agreement between capillary blood and venous blood samples using the PID-RDT within confirmed PID…
- Trial name
- NCT05621876
- Testing
- IgG deficiency rapid screening test
- Where
- Tunisia
- Volunteers
- 50 people
- Sponsor
- PATH
Quality Improvement, Hyperbilirubinemia, Neonatal
Multi-center Clinical Study on Neonatal Hyperbilirubinemia
Eight hospitals in China will participate in the study, which aims to decrease the incidence of severe hyperbilirubinemia.
- Trial name
- NCT03824990
- Testing
- Quality improvement of management of neonatal jaundice
- Where
- China
- Volunteers
- 20,000 people
- Sponsor
- Nanjing 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
Sun May Arise on SMA : Newborn Screening of Spinal Muscular Atrophy in Belgium
Medico-economic study of Newborn screening of Spinal Muscular Atrophy
- Trial name
- NCT03554343
- Testing
- test for SMN1 exon 7 deletion
- Where
- Belgium
- Volunteers
- 136,339 people
- Sponsor
- Centre Hospitalier Régional de la Citadelle
Genetic Screening, Hereditary Disease
Study on Early Genetic Screening and Precise Strategy of Neonatal Critical Illness
The researchers hope to establish an overall program of early genetic screening for neonatal critical illness in China, and to develop precise intervention strategies to assist clinical diagnosis and treatment of hereditary…
- Conditions
- Genetic Screening, Hereditary Disease, Newborn, Stillbirth
- Trial name
- NCT04905537
- Testing
- No intervention
- Where
- China
- Volunteers
- 4,000 people
- Sponsor
- Children's Hospital of Fudan University
Turner Syndrome, Ovarian Insufficiency
Cryopreservation of Ovarian Cortex in Girls With Turner Syndrome
Ovarian insufficiency is common in Turner syndrome related to premature and rapid follicular apoptosis and spontaneous pregnancies are rare in this population.
- Trial name
- CRYO-X0 (NCT01410045)
- Testing
- Ovariectomy
- Where
- France
- Volunteers
- 47 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Fetal Growth Retardation, Fetal; Slow Growth
Third Trimester Screening of Fetal Growth Restriction
The aim of this trial is to assess the efficacy of two screening protocols for the detection of fetal growth disorders. In Italy at the moment the screening protocol should not be universal but only on clinical indications.
- Trial name
- RELAIS (NCT05787054)
- Testing
- Third trimester ultrasound
- Where
- Italy
- Volunteers
- 813 people, healthy volunteers welcome
- Sponsor
- Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Genetic Predisposition to Disease, Hereditary Diseases
Implementation of Whole Genome Sequencing as Screening in a Diverse Cohort of Healthy Infants
This research study is exploring the use of genomic sequencing in the newborn period to screen healthy babies for current and future health risks.
- Trial name
- NCT05161169
- Testing
- Genome Sequencing
- Where
- 3 sites in United States
- Volunteers
- 640 people, healthy volunteers welcome
- Sponsor
- Brigham and Women's Hospital
Retinopathy of Prematurity
Efficacy and Safety of Mydriatic Microdrops Compared With Standard Drops for Retinopathy of Prematurity (ROP) Screening: a Pilot Randomized Clinical Trial
The purpose is to assess whether the use of microdrop instillation of phenylephrine 1.67% and tropicamide 0.33% maintains mydriatic efficacy while presents an improved safety profile compared with standard drops of phenylephrine…
- Trial name
- NCT04623684
- Testing
- Microdrop administration [phenylephrine 1.67% + tropicamide 0.33% (drop volume: 6-7 μL)], Standard drop administration [phenylephrine 1.67% + tropicamide 0.33% (drop volume: 28-34 μL)]
- Where
- Greece
- Volunteers
- 25 people
- Sponsor
- Aristotle University Of Thessaloniki