Clinical trial: Baby Detect : Genomic Newborn Screening
Status: RECRUITING
Conditions: Congenital Adrenal Hyperplasia|Familial Hyperinsulinemic Hypoglycemia 1|Phosphoglucomutase 1 Deficiency|Maturity Onset Diabetes of the Young|Cystic Fibrosis|Hypophosphatasia, Infantile|Congenital Hypothyroidism|Deficit in Anterior Pituitary Function and Variable Immunodeficiency|Pituitary Hormone Deficiency, Combined|Diamond Blackfan Anemia|Wiskott-Aldrich Syndrome|Fanconi Anemia|Hemophilia A|Hemophilia B|Glucose 6 Phosphate Dehydrogenase Deficiency|Alpha-Thalassemia|Sickle Cell Disease|Shwachman-Diamond Syndrome|Alpha 1-Antitrypsin Deficiency|Inflammatory Bowel Disease 25, Autosomal Recessive|Wilson Disease|Progressive Familial Intrahepatic Cholestasis|Crigler-Najjar Syndrome|Familial Chylomicronemia|Lysosomal Acid Lipase Deficiency|Familial Hemophagocytic Lymphocytosis|Griscelli Syndrome|Chediak-Higashi Syndrome|Severe Congenital Neutropenia|Severe Combined Immune Deficiency|Chronic Granulomatous Disease|Menkes Disease|Adrenoleukodystrophy|Smith-Lemli-Opitz Syndrome|Ataxia With Vitamin E Deficiency|Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)|Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration and Progressive Polyneuropathy Type)|Thiamine-Responsive Megaloblastic Anemia|Thiamine Metabolism Dysfunction Syndrome 2|Deficiency of GOT2|Cerebral Folate Transport Deficiency|Segawa Syndrome, Autosomal Recessive|Congenital Myasthenic Syndrome|Metachromatic Leukodystrophy|Sepiapterin Reductase Deficiency|Dopamine Beta Hydroxylase Deficiency|Glut1 Deficiency Syndrome|Late-Infantile Neuronal Ceroid Lipofuscinosis|Aromatic L-amino Acid Decarboxylase Deficiency|Charcot-Marie-Tooth Disease, Type 6C|Hereditary Hyperekplexia|Brain Dopamine-Serotonin Vesicular Transport Disease|Very Long Chain Hydroxy Acyl Dehydrogenase Deficiency|Tyrosinemia, Type I|Disaccharide Intolerance I|Beta Ketothiolase Deficiency|Phosphoglycerate Dehydrogenase Deficiency|Succinyl-Coa:3-Ketoacid Coa-Transferase Deficiency|Pyridoxine-5'-Phosphate Oxidase Deficiency|Pyridoxine-Dependent Epilepsy|Propionic Acidemia|Pompe Disease|Phenylalanine Hydroxylase Deficiency|Ornithine Transcarbamylase Deficiency|N Acetyl Glutamate Synthetase Deficiency|Riboflavin Deficiency|Maple Syrup Urine Disease|Medium Chain Acyl CoA Dehydrogenase Deficiency|Malonic Acidemia|Long-chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency|Isovaleric Acidemia|Phosphoserine Aminotransferase Deficiency|Phosphoserine Phosphatase Deficiency|Hyperornithinemia-Hyperammonemia-Homocitrullinuria|S-Adenosylhomocysteine Hydrolase Deficiency|Mucopolysaccharidosis VII|Mucopolysaccharidosis VI|Mucopolysaccharidosis IV A|Mucopolysaccharidosis II|Mucopolysaccharidosis I|Transcobalamin Deficiency|Isolated Methylmalonic Acidemia|Cobalamin Deficiency|Homocystinuria|Holocarboxylase Synthetase Deficiency|Fanconi Bickel Syndrome|Glycogen Storage Disease|Glycine Encephalopathy|Glutaric Acidemia I|Glucose Galactose Malabsorption|Gaucher Disease, Type 1|Galactosemias|Fructosemia|Fructose-1,6-Diphosphatase Deficiency|Carbamoyl Phosphate Synthase 1 Deficiency|Citrullinemia Type II|Citrullinemia 1|Creatine Deficiency Syndrome|Systemic Primary Carnitine Deficiency|Carnitine Palmitoyltransferase Deficiency 2|Carnitine Palmitoyltransferase Deficiency 1|Carnitine Acylcarnitine Translocase Deficiency|Riboflavin Transporter Deficiency|Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency|Andersen Tawil Syndrome|Timothy Syndrome|Jervell-Lange Nielsen Syndrome|Catecholaminergic Polymorphic Ventricular Tachycardia|Familial Hypertrophic Cardiomyopathy Type 4|Pseudohypoaldosteronism, Type II|Pseudohypoaldosteronism Type 1|Primary Hyperoxaluria|X Linked Hypophosphatemia|Hereditary Nephrogenic Diabetes Insipidus|Cystinosis|Congenital Nephrotic Syndrome, Finnish Type|Alport Syndrome|Hereditary Retinoblastoma|Biotinidase Deficiency|Aciduria, Argininosuccinic|Argininemia|Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of|3-Hydroxy 3-Methyl Glutaric Aciduria|3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency
Study Type: OBSERVATIONAL
Study Design: Observational Model: |Time Perspective: p