Universal Genomic Newborn Screening in the Wallonia-Brussels Federation: Baby Detect

Title

Universal Genomic Newborn Screening in the Wallonia-Brussels Federation: Baby Detect

Lead sponsor

Centre Hospitalier Universitaire de Liege

Phase

Observational

Overall status

Completed

Start date

September 1, 2022

Completion date

June 2, 2025

Enrollment

6,824 (actual)

Sites

1

3-hydroxy 3-methyl glutaric aciduria, 3-hydroxy-3-methylglutaryl-coa synthase 2 deficiency, aciduria, argininosuccinic, acyl-coa dehydrogenase family, member 9, deficiency of, adrenoleukodystrophy, alpha 1-antitrypsin deficiency, alpha-thalassemia, alport syndrome, andersen tawil syndrome, argininemia, aromatic l-amino acid decarboxylase deficiency, ataxia with vitamin e deficiency, beta ketothiolase deficiency, biotinidase deficiency, brain dopamine-serotonin vesicular transport disease, branched-chain keto acid dehydrogenase kinase deficiency, carbamoyl phosphate synthase 1 deficiency, carnitine acylcarnitine translocase deficiency, carnitine palmitoyltransferase deficiency 1, carnitine palmitoyltransferase deficiency 2, catecholaminergic polymorphic ventricular tachycardia, cerebral folate transport deficiency, charcot-marie-tooth disease, type 6c, chediak-higashi syndrome, chronic granulomatous disease, citrullinemia 1, citrullinemia type ii, cobalamin deficiency, congenital adrenal hyperplasia, congenital hypothyroidism, congenital myasthenic syndrome, congenital nephrotic syndrome, finnish type, creatine deficiency syndrome, crigler-najjar syndrome, cystic fibrosis, cystinosis, deficiency of got2, deficit in anterior pituitary function and variable immunodeficiency, diamond blackfan anemia, disaccharide intolerance i, dopamine beta hydroxylase deficiency, familial chylomicronemia, familial hemophagocytic lymphocytosis, familial hyperinsulinemic hypoglycemia 1, familial hypertrophic cardiomyopathy type 4, fanconi anemia, fanconi bickel syndrome, fructose-1,6-diphosphatase deficiency, fructosemia, galactosemias, gaucher disease, type 1, glucose 6 phosphate dehydrogenase deficiency, glucose galactose malabsorption, glut1 deficiency syndrome, glutaric acidemia i, glycine encephalopathy, glycogen storage disease, griscelli syndrome, hemophilia a, hemophilia b, hereditary hyperekplexia, hereditary nephrogenic diabetes insipidus, hereditary retinoblastoma, holocarboxylase synthetase deficiency, homocystinuria, hyperornithinemia-hyperammonemia-homocitrullinuria, hypophosphatasia, infantile, inflammatory bowel disease 25, autosomal recessive, isolated methylmalonic acidemia, isovaleric acidemia, jervell-lange nielsen syndrome, late-infantile neuronal ceroid lipofuscinosis, long-chain 3-hydroxyacyl-coa dehydrogenase deficiency, lysosomal acid lipase deficiency, malonic acidemia, maple syrup urine disease, maturity onset diabetes of the young, medium chain acyl coa dehydrogenase deficiency, menkes disease, metachromatic leukodystrophy, mucopolysaccharidosis i, mucopolysaccharidosis ii, mucopolysaccharidosis iv a, mucopolysaccharidosis vi, mucopolysaccharidosis vii, n acetyl glutamate synthetase deficiency, ornithine transcarbamylase deficiency, phenylalanine hydroxylase deficiency, phosphoglucomutase 1 deficiency, phosphoglycerate dehydrogenase deficiency, phosphoserine aminotransferase deficiency, phosphoserine phosphatase deficiency, pituitary hormone deficiency, combined, pompe disease, primary hyperoxaluria, progressive familial intrahepatic cholestasis, propionic acidemia, pseudohypoaldosteronism type 1, pseudohypoaldosteronism, type ii, pyridoxine-5'-phosphate oxidase deficiency, pyridoxine-dependent epilepsy, riboflavin deficiency, riboflavin transporter deficiency, s-adenosylhomocysteine hydrolase deficiency, segawa syndrome, autosomal recessive, sepiapterin reductase deficiency, severe combined immune deficiency, severe congenital neutropenia, shwachman-diamond syndrome, sickle cell disease, smith-lemli-opitz syndrome, succinyl-coa:3-ketoacid coa-transferase deficiency, systemic primary carnitine deficiency, thiamine metabolism dysfunction syndrome 2, thiamine metabolism dysfunction syndrome 4 (bilateral striatal degeneration and progressive polyneuropathy type), thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), thiamine-responsive megaloblastic anemia, timothy syndrome, transcobalamin deficiency, tyrosinemia, type i, very long chain hydroxy acyl dehydrogenase deficiency, wilson disease, wiskott-aldrich syndrome, x linked hypophosphatemia