Baby Detect : Genomic Newborn Screening (BabyDetect)

University Hospital Center (CHU) of Liege

Status

Completed

Conditions

Fructosemia

Pseudohypoaldosteronism, Type II

Hemophilia B

Lysosomal Acid Lipase Deficiency

Glutaric Acidemia I

Inflammatory Bowel Disease 25, Autosomal Recessive

Carnitine Palmitoyltransferase Deficiency 2

Systemic Primary Carnitine Deficiency

Catecholaminergic Polymorphic Ventricular Tachycardia

Hypophosphatasia, Infantile

3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency

Smith-Lemli-Opitz Syndrome

Hereditary Retinoblastoma

Phosphoglucomutase 1 Deficiency

Long-chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency

X Linked Hypophosphatemia

Alport Syndrome

Diamond Blackfan Anemia

Very Long Chain Hydroxy Acyl Dehydrogenase Deficiency

Congenital Nephrotic Syndrome, Finnish Type

Familial Chylomicronemia

Primary Hyperoxaluria

Biotinidase Deficiency

Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration and Progressive Polyneuropathy Type)

Isovaleric Acidemia

Fanconi Anemia

Fanconi Bickel Syndrome

Carnitine Acylcarnitine Translocase Deficiency

N Acetyl Glutamate Synthetase Deficiency

Familial Hyperinsulinemic Hypoglycemia 1

Pompe Disease

Thiamine Metabolism Dysfunction Syndrome 2

Isolated Methylmalonic Acidemia

Thiamine-Responsive Megaloblastic Anemia

Mucopolysaccharidosis I

Pituitary Hormone Deficiency, Combined

Fructose-1,6-Diphosphatase Deficiency

Maple Syrup Urine Disease

Cobalamin Deficiency

Glycogen Storage Disease

Chronic Granulomatous Disease

Tyrosinemia, Type I

Homocystinuria

Segawa Syndrome, Autosomal Recessive

Glycine Encephalopathy

Hereditary Nephrogenic Diabetes Insipidus

Mucopolysaccharidosis VII

Hemophilia A

Timothy Syndrome

Cerebral Folate Transport Deficiency

Glucose 6 Phosphate Dehydrogenase Deficiency

Charcot-Marie-Tooth Disease, Type 6C

Aromatic L-amino Acid Decarboxylase Deficiency

Ataxia With Vitamin E Deficiency

Ornithine Transcarbamylase Deficiency

Sepiapterin Reductase Deficiency

Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)

Congenital Hypothyroidism

Progressive Familial Intrahepatic Cholestasis

Citrullinemia 1

Riboflavin Deficiency

Phosphoserine Phosphatase Deficiency

Alpha 1-Antitrypsin Deficiency

Dopamine Beta Hydroxylase Deficiency

Gaucher Disease, Type 1

Medium Chain Acyl CoA Dehydrogenase Deficiency

Shwachman-Diamond Syndrome

Phosphoglycerate Dehydrogenase Deficiency

Familial Hemophagocytic Lymphocytosis

Hereditary Hyperekplexia

Hyperornithinemia-Hyperammonemia-Homocitrullinuria

Pyridoxine-Dependent Epilepsy

Creatine Deficiency Syndrome

Pseudohypoaldosteronism Type 1

Holocarboxylase Synthetase Deficiency

Crigler-Najjar Syndrome

Late-Infantile Neuronal Ceroid Lipofuscinosis

Deficiency of GOT2

Argininemia

Transcobalamin Deficiency

Mucopolysaccharidosis VI

Familial Hypertrophic Cardiomyopathy Type 4

Riboflavin Transporter Deficiency

Glucose Galactose Malabsorption

Glut1 Deficiency Syndrome

Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency

Congenital Adrenal Hyperplasia

Congenital Myasthenic Syndrome

Andersen Tawil Syndrome

Griscelli Syndrome

Cystinosis

Mucopolysaccharidosis IV A

Brain Dopamine-Serotonin Vesicular Transport Disease

Metachromatic Leukodystrophy

Sickle Cell Disease

Pyridoxine-5'-Phosphate Oxidase Deficiency

Wilson Disease

Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of

Beta Ketothiolase Deficiency

Jervell-Lange Nielsen Syndrome

Phosphoserine Aminotransferase Deficiency

Aciduria, Argininosuccinic

Phenylalanine Hydroxylase Deficiency

Carbamoyl Phosphate Synthase 1 Deficiency

Cystic Fibrosis

Citrullinemia Type II

Mucopolysaccharidosis II

Maturity Onset Diabetes of the Young

Severe Congenital Neutropenia

Carnitine Palmitoyltransferase Deficiency 1

Disaccharide Intolerance I

Deficit in Anterior Pituitary Function and Variable Immunodeficiency

Adrenoleukodystrophy

Chediak-Higashi Syndrome

S-Adenosylhomocysteine Hydrolase Deficiency

Menkes Disease

Severe Combined Immune Deficiency

Galactosemias

Malonic Acidemia

Succinyl-Coa:3-Ketoacid Coa-Transferase Deficiency

Wiskott-Aldrich Syndrome

Alpha-Thalassemia

3-Hydroxy 3-Methyl Glutaric Aciduria

Propionic Acidemia

Study type

Observational

Funder types

Other

Industry

Identifiers

NCT05687474

Baby Detect

Details and patient eligibility

About

Newborn screening (NBS) is a global initiative of systematic testing at birth to identify babies with pre-defined severe but treatable conditions. With a simple blood test, rare genetic conditions can be easily detected, and the early start of transformative treatment will help avoid severe disabilities and increase the quality of life.

Baby Detect Project is an innovative NBS program using a panel of target sequencing that aims to identify 126 treatable severe early onset genetic diseases at birth caused by 361 genes. The list of diseases has been established in close collaboration with the Paediatricians of the University Hospital in Liege. The investigators use dedicated dried blood spots collected between the first day and 28 days of life of babies, after a consent sign by parents.

Full description

Every year, thousands of children around the world are born with rare genetic diseases leading to death or lifelong disability. With technological advancements in the field of genetics and medicine, the rate of introduction of treatments for these rare conditions has grown remarkably.

However, timing is of great importance for medication administration. The benefit that can be measured in a patient who has already suffered from a long irreversible degenerative disorder is small and, sometimes, it hardly justifies the cost and the burden of the treatment. Early diagnosis is, thus, of primary importance both to obtain the best effect of the innovative medications and to accelerate their development.

The investigators are pioneered in the field of genetic newborn screening (NBS) in rare diseases by funding, designing, and leading an innovative genetic NBS program initiated in March 2018 in Southern Belgium for Spinal Muscular Atrophy (SMA) that allowed, so far, for 11 children to be detected and treated early and avoid the terrible fate of the disease. The program was disseminated in 17 countries and included public dissemination and health-economic analysis since the very beginning [1]. (www.facebook.com/sunmayariseonsma).

Drawing upon our experience with SMA screening, the investigators have designed a project to screen up to 40,000 newborns/year progressively in 3 years for virtually all the rare diseases that can benefit from treatment or a pre-symptomatic clinical trial.

The methodology of Baby Detect includes sequencing of target genes on dried blood spots collected from the NBS cards in a timely and cost-efficient manner, and its high dynamicity allows for any newly treatable rare disease to be included in its scheme in no longer than 6 months.

Baby Detect, as a multidisciplinary newborn screening program, involves expertise in areas from genetics and medicine to laboratory studies, computer science, Data Protection, Ethics, and health economy. It will constitute the proof of concept that is needed before moving to a whole region-scale population.

Enrollment

6,824 patients

Sex

All

Ages

Under 28 days old

Volunteers

Accepts Healthy Volunteers

Inclusion criteria