Newborn Screening
Showing 1 - 25 of >10,000
Parents in France With or Without Genetics in the First Line
Completed
- Expanded Newborn Screening
- Parental Acceptability
- Questionnaire
- Interview
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Clamart, France
- +3 more
Oct 26, 2023
Assay for Angelman Syndrome and Prader-Willi Syndrome
Not yet recruiting
- Angelman Syndrome
- Prader-Willi Syndrome
- Newborn Screening Assay
-
Madison, WisconsinUniversity of Wisconsin School of Medicine and Public Health
Mar 30, 2023
Cystinosis, Primary Hyperoxaluria Trial in Hanover (Diagnostic test)
Recruiting
- Cystinosis
- Primary Hyperoxaluria
- Diagnostic test
-
Hanover, Lower Saxony, GermanyScreening Laboratory Hanover
Apr 24, 2023
Cystinosis, Cystinosis, Nephropathic, Spinal Muscular Atrophy Trial in Germany (molecular-based screening)
Completed
- Cystinosis
- +2 more
- molecular-based screening
-
Rosenheim, Bavaria, Germany
- +3 more
Aug 30, 2023
Feasibility of Neonatal Screening for Spinal Amyotrophy Trial
Not yet recruiting
- Feasibility of Neonatal Screening for Spinal Amyotrophy
- (no location specified)
Dec 1, 2022
Early Onset Genetic Conditions With Near Complete Penetrance Trial in New York (Genome sequencing-based newborn screening)
Recruiting
- Early Onset Genetic Conditions With Near Complete Penetrance
- Genome sequencing-based newborn screening
-
New York, New YorkColumbia University Irving Medical Center/NYP
Aug 10, 2023
Cohort Of DEafness-gene Screening
Active, not recruiting
- Hearing Loss
- Genetic screening test (Deafness gene variant detection array kit)
- (no location specified)
Nov 10, 2023
Spinal Muscular Atrophy -Proof of Principle Study Using
Completed
- Spinal Muscular Atrophy
-
London, United KingdomDubowitz Neuromuscular Centre
Feb 2, 2022
Newborn Screening for Spinal Muscular Atrophy
Recruiting
- Muscular Atrophy, Spinal
-
Buckingham, United Kingdom
- +3 more
Jul 26, 2022
Patients With "Late-Onset" Pompe Disease
Active, not recruiting
- Pompe Disease
- +2 more
- Observational
-
Durham, North CarolinaDuke University
Oct 7, 2022
Examinations for Asymptomatic MPS I Infants in Taiwan
Recruiting
- MPS I
- MPS I
-
Taipei, TaiwanMackay Memorial Hospital
Mar 2, 2022
Neonatal Cord Blood Screening for HDN
Not yet recruiting
- HDN - Hemolytic Disease of the Newborn
- (no location specified)
Nov 8, 2022
Whole Exome Screening of Newborns
Recruiting
- Infant, Newborn
- Screening
- +4 more
-
Moscow, Russian FederationFederal State Budget Institution Research Center for Obstetrics,
Apr 5, 2022
Newborn Sequencing Screening in China
Not yet recruiting
- Newborns
- NGS
- (no location specified)
Jul 25, 2022
ScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn
Enrolling by invitation
- Acid Sphingomyelinase Deficiency
- +13 more
- Confirmatory Testing
-
Bronx, New York
- +9 more
May 9, 2022
Sun May Arise on SMA : Newborn Screening of Spinal Muscular
Completed
- Spinal Muscular Atrophy
- test for SMN1 exon 7 deletion
-
Liege, Wallonia, BelgiumCRMN, Hôpital La Citadelle
Mar 8, 2021
Public AttitudesTowards SMA and DMD Awareness, Newborn and
Not yet recruiting
- Spinal Muscular Atrophy
- +2 more
- Questionnaire
- (no location specified)
Nov 8, 2021
Congenital Cataract Trial (Neocam)
Not yet recruiting
- Congenital Cataract
- Neocam
- (no location specified)
Mar 30, 2022
Bilistick Point-of-care System 2.0 Bilirubin Validation
Not yet recruiting
- Neonatal Screening
- +3 more
- Bilistick System 2.0 point-of-care testing device
- (no location specified)
Sep 27, 2023
Hearing Loss, Newborn Morbidity Trial (counselling)
Not yet recruiting
- Hearing Loss
- Newborn Morbidity
- counselling
- (no location specified)
Aug 3, 2021
Precise Strategy of Neonatal Critical Illness
Recruiting
- Genetic Screening
- +3 more
- No intervention
-
Shanghai, Shanghai, ChinaChildren's Hospital of Fudan University
Jun 6, 2022
The Yield of Postnatal Thyroid Function Test in Well Baby
Completed
- Hypothyroidism
- Thyroid function test
-
H̱adera, Hadera, IsraelHillel Yaffe medical center
Oct 3, 2021
Baby Detect : Genomic Newborn Screening
Recruiting
- Congenital Adrenal Hyperplasia
- +126 more
-
Liege, Wallonia, BelgiumCRMN, Hôpital La Citadelle
Jan 24, 2023
Dry Blood Spot Screening Test for Neonatal Cholestasis Patients
Enrolling by invitation
- Cholestasis in Newborn Infant
- Biliary Atresia
- Dry blood spot screening
-
Taipei, TaiwanNational Taiwan University Hospital
May 12, 2021
Heart; Surgery, Heart, Functional Disturbance as Result Trial in France (Screening for respiratory virus infection)
Recruiting
- Heart; Surgery, Heart, Functional Disturbance as Result
- Screening for respiratory virus infection
-
Créteil, France
- +4 more
May 2, 2022