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Newborn Screening Disorders

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Clinical Trials

This information is provided by ClinicalTrials.gov

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Displaying 1-10 of 14 results.
Longitudinal Observational Study on the Course of Cystic Fibrosis Lung Disease in Patients Following Newborn Screening
Status: Recruiting
Last Changed: May 17, 2018
First Received: Oct 21, 2014
Disease(s): Cystic Fibrosis Lung Disease
Locations: University Children's Hospital Heidelberg, Cystic Fibrosis Centre, Heidelberg, Baden-Württemberg, Germany
University Hospital Gießen and Marburg GmbH, Gießen, Hessen, Germany
Medizinische Hochschule Hannover, Hannover, Niedersachsen, Germany
University Children's Hospital Schleswig-Holstein, Lübeck, Schleswig-Holstein, Germany
DREPAMASSE Study - Evaluation of a Newborn Screening for Sickle Cell Disease by Tandem Mass Spectrometry
Status: Not yet recruiting
Last Changed: Jun 13, 2019
First Received: Jun 13, 2019
Disease(s): Sickle Cell Disease, Infant, Newborn, Disease, Drepanocytosis
Intervention(s): SCD newborn screening with the MS/MS method from Zentech
Locations: Groupement Hospitalier Est - Hospices Civils de Lyon, Bron, France
Hôpital de la Croix Rousse, Lyon, France
Centre Hospitalier Lyon Sud, Pierre-Bénite, France
Developing a Management Approach for Patients With "Late-Onset" Pompe Disease
Status: Recruiting
Last Changed: Aug 19, 2019
First Received: Oct 03, 2018
Disease(s): Pompe Disease, Pompe Disease (Late-onset), GAA Deficiency
Intervention(s): Observational
Locations: Duke University, Durham, North Carolina, United States
Neonatal Screening of Severe Combined Immunodeficiencies
Status: Recruiting
Last Changed: Jun 21, 2019
First Received: Oct 29, 2015
Disease(s): Severe Combined Immunodeficiency, Neonatal Screening
Locations: Children's Hospital of Fudan University, Shanghai, Shanghai, China
Health-economic Impact of Pulse Oximetry Systematic Screening of Critical Congenital Heart Disease in Asymptomatic Newborns
Status: Recruiting
Last Changed: Oct 01, 2018
First Received: Mar 13, 2017
Disease(s): Critical Congenital Heart Disease
Intervention(s): Pulse oximetry
Locations: CH Agen, Agen, France
Clinique Esquirol - Saint Hilaire, Agen, France
CH Angoulême, Angouleme, France
CH de la Haute Gironde, Blaye, France
Polyclinique Bordeaux Nord Aquitaine, Bordeaux, France
... and 25 other locations.
Multicenter Neonatal Eye Disease Screening in China
Status: Recruiting
Last Changed: Apr 30, 2018
First Received: Aug 01, 2016
Disease(s): Eye Disease
Locations: Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China
The China Neonatal Genomes Project
Status: Recruiting
Last Changed: Apr 30, 2019
First Received: Apr 30, 2019
Disease(s): Newborn, Hereditary Disease, Genetic Predisposition to Disease, Defect, Congenital
Intervention(s): Genomic sequencing
Locations: Children Hospital of Fudan University, Shanghai, Shanghai, China
Sun May Arise on SMA : Newborn Screening of SMA in Belgium
Status: Recruiting
Last Changed: Nov 20, 2018
First Received: Jun 13, 2018
Disease(s): Spinal Muscular Atrophy
Intervention(s): test for SMN1 exon 7 deletion
Locations: CRMN, Hôpital La Citadelle, Liege, Wallonia, Belgium
Towards Routine HPA-screening In Pregnancy to Prevent FNAIT
Status: Recruiting
Last Changed: Aug 30, 2019
First Received: Aug 26, 2019
Disease(s): Fetal and Neonatal Alloimmune Thrombocytopenia
Intervention(s): Clinical data collection.
Locations: Stichting Bloedbank Sanquin, Amsterdam, Netherlands
LC-MS / MS Adrenal Steroids Assayed on Dried Blot Spot for the Congenital Adrenal Hyperplasia Neonatal Screening (SPECTROSPOT)
Status: Not yet recruiting
Last Changed: Jul 17, 2018
First Received: Jul 17, 2018
Disease(s): Adrenal Hyperplasia, Congenital