Clinical trials: Neonatal Screening
Pancreatic Ductal Adenocarcinoma, Familial Pancreatic Cancer
A Study of IMMray™ PanCan-d Test for Early Detection of Pancreatic Cancer in High-risk Groups
PanFAM-1 is a clinical study for early detection of pancreatic cancer in high-risk groups. The goals of the study are to assess the performance and diagnostic accuracy of the IMMray™ PanCan-d test compared to standard-of-care…
- Conditions
- Pancreatic Ductal Adenocarcinoma, Familial Pancreatic Cancer, FAMMM - Familial Atypical Mole Malignant Melanoma Syndrome
- Trial name
- NCT03693378
- Where
- 21 sites in United States, Canada and 3 more
- Volunteers
- 1,349 people, healthy volunteers welcome
- Sponsor
- Immunovia, Inc.
Cancer, HIV Infections
The Use of a Distress Thermometer in a Pediatric Research Setting: An Exploratory Pilot Study
Medical illnesses and treatments can cause distress in patients, and medical professionals are very interested in identifying distress quickly to ensure that a patient can receive appropriate support and treatment.
- Trial name
- NCT00824278
- Where
- United States
- Volunteers
- 289 people
- Sponsor
- National Institute of Mental Health (NIMH)
Newborn Screening
Genetic Newborn Screening for Rare Diseases Within the Screen4Care Project
The main objective of the genetic newborn screening part of the Screen4Care-project is to shorten the path to rare disease diagnosis and to facilitate early intervention.
- Trial name
- SCREEN4CARE (NCT06549218)
- Testing
- newborn genetic screening and whole genome sequencing
- Where
- 8 sites in France, Germany and 1 more
- Volunteers
- 20,000 people, healthy volunteers welcome
- Sponsor
- University Hospital Freiburg
Hearing Loss
Neonatal Hearing Screening at Neonatal Intensive Care Unit
Hearing loss is one of the most common congenital anomalies . It has been shown to be greater than that of most other diseases and syndromes (eg, phenylketonuria, sickle cell disease) screened at birth.
- Trial name
- NCT03716362
- Testing
- Otoacoustic emissions device
- Where
- Egypt
- Sponsor
- Assiut University
Hip Dysplasia, Developmental
Diagnostic Efficacy Study of AI System in Screening Infants With Developmental Dysplasia of the Hip
To ascertain the efficacy of the DeepDDH system, a deep learning framework, in enhancing diagnostic accuracy and curtailing follow-up intervals for infants undergoing screening for developmental dysplasia of the hip (DDH), the…
- Trial name
- ASIDDH (NCT06803004)
- Testing
- Junior sonographer measurement of DDH, Senior sonographer measurement of DDH, Automated annotation of the DDH measurement through deep learning
- Where
- China
- Volunteers
- 1,789 people
- Sponsor
- RenJi Hospital
Stillbirth, Intrauterine Growth Retardation
Antenatal Detection of Fetal Growth Restriction and Stillbirths Rate.
The main objective is to assess the role of antenatal detection of fetal growth restriction (FGR) on stillbirth, by a case-control study in a population-based sample of small for gestational age (SGA) livebirths and stillbirths…
- Conditions
- Stillbirth, Intrauterine Growth Retardation, Infant, Small for Gestational Age
- Trial name
- REPERE (NCT01995968)
- Testing
- Antenatal identification of fetal growth restriction
- Where
- 21 sites in France
- Volunteers
- 480 people
- Sponsor
- University Hospital, Grenoble
Down Syndrome, Patau Syndrome
Clinical Evaluation of the IONA Test for Non-invasive Pre Natal Screening in Twin Pregnancies
The purpose of this study is to evaluate the performance of the IONA® test which is a non-invasive prenatal test (NIPT) for Down's syndrome and other chromosomal abnormalities in twin pregnancies, from a maternal blood sample.
- Conditions
- Down Syndrome, Patau Syndrome, Edward's Syndrome
- Trial name
- TWIN (NCT03200041)
- Testing
- Blood sample
- Where
- United Kingdom
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Premaitha Health
Congenital Hypothyroidism, L-Thyroxine
Diagnosis and Follow-up of Patients With Subclinical Hypothyroidism
Long term follow-up of the patients with delayed TSH elevation or subclinical hypothyroidism has been seldom reported. The purpose of this study was to explore the diagnostic criteria for subclinical hypothyroidism and the…
- Conditions
- Congenital Hypothyroidism, L-Thyroxine, Follow-Up
- Trial name
- CHRO1 (NCT00497575)
- Sponsor
- Zhejiang University
Congenital Hypothyroidism
Evaluation of an Intensified Systematic Screening for Congenital Hypothyroidism in Premature Newborns
Currently in France, screening for congenital hypothyroidism (CH) in premature infants is done by a single TSH assay on filter paper. However, European recommendations advise repeating the assay within the first month of life.
- Trial name
- PREMATHYRO (NCT07425028)
- Testing
- Blood test
- Where
- France
- Volunteers
- 1,600 people
- Sponsor
- University Hospital, Lille
Spinal Muscular Atrophy (SMA), Duchenne Muscular Dystrophy (DMD)
Active NBS Study: Decentralised Monitoring Motor Development in Children With Duchenne Muscular Dystrophy or Spinal Muscular Atrophy Identified by Newborn Screening
The Active NBS Liege study is a monocentric, academic, fully remote, observational study designed to validate digital measures of motor development in children with spinal muscular atrophy (SMA) or Duchenne muscular dystrophy…
- Trial name
- Active-NBS BE (NCT07286565)
- Testing
- MAIJU, Syde, Questionnaires
- Where
- Belgium
- Volunteers
- 100 people
- Sponsor
- Centre Hospitalier Universitaire de Liege
Sickle Cell Disease
Sickle Cell Disease, Hemechip
Sickle cell disease is very common in Nigeria. Early diagnosis is important to prevent or reduce serious complications from the disease and to enable children stay healthy.
- Trial name
- NCT03948516
- Where
- 7 sites in United States, Nigeria
- Volunteers
- 738 people, healthy volunteers welcome
- Sponsor
- University Hospitals Cleveland Medical Center
Any Single Gene Disorder (Cystic Fibrosis, Tay-Sachs)
Concurrent Single Gene and 24 Chromosome Aneuploidy Preimplantation Genetic Diagnosis (PGD)
Gene Security Network has developed a novel technology called Parental SupportTM (PS) which is used for Preimplantation Genetic Screening/Diagnosis (PGS/D) during in vitro fertilization (IVF).
- Trial name
- IVF008 (NCT01023048)
- Testing
- preimplantation diagnosis
- Where
- United States
- Volunteers
- 56 people, healthy volunteers welcome
- Sponsor
- Natera, Inc.
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
Premature, Retinopathy of Prematurity
Comfort Level in Premature Infants Undergoing Retinopathy of Prematurity Screening
Retinopathy of prematurity (ROP) screening is a routine yet painful procedure for premature infants, often necessitating pharmacological mydriasis.
- Conditions
- Premature, Retinopathy of Prematurity, Pain
- Trial name
- NCT07016984
- Testing
- standard phototherapy eye patches
- Where
- Turkey (Türkiye)
- Volunteers
- 90 people
- Sponsor
- Istanbul Nisantasi University
Von Hippel-Lindau Disease
Screening for Endolymphatic Sac Tumours (ELSTs) in Von Hippel-Lindau (vHL) Patients
The purpose of the study is to investigate how best to screen for Endolymphatic sac tumors (ELSTs) in von Hippel-Lindau (vHL) patients in order to diagnose the ELSTs while they are still small so that hearing loss can be…
- Trial name
- NCT02420067
- Where
- Denmark
- Volunteers
- 380 people
- Sponsor
- Marie Luise Bisgaard, MD
Spinal Muscular Atrophy
Spinal Muscular Atrophy Neonatal Screening Program
Spinal muscular atrophy (SMA) is a group of disorders caused by the degeneration of the motor neuron cells of the anterior horn of the spinal cord and, in some subtypes, of the bulbar motor neurons.
- Trial name
- NCT06310421
- Testing
- Screening SMA test
- Where
- 2 sites in Italy
- Volunteers
- 11,500 people
- Sponsor
- IRCCS Burlo Garofolo
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
Hearing Loss
Cohort Of DEafness-gene Screening
This study was based on a concurrent newborn genetic and hearing screening program in Nantong city. From January 2016 to December 2020, newborn infants were recruited and received combined screening for free, funded in part by…
- Trial name
- CODES (NCT06133946)
- Testing
- Genetic screening test (Deafness gene variant detection array kit)
- Volunteers
- 35,920 people
- Sponsor
- Affiliated Hospital of Nantong University
Familial Hypercholesterolemia
Child-Parent Familial Hypercholesterolemia Screening
Child-parent screening for familial hypercholesterolemia has been proposed to identify children and their parent who are carrier of mutations and with high risk for inherited premature coronary artery disease.
- Trial name
- NCT04529967
- Testing
- no interventions
- Where
- 6 sites in China
- Volunteers
- 15,000 people
- Sponsor
- Children's Hospital of Fudan University
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