Baby Detect : Genomic Newborn Screening

Sponsor

Laurent Servais (Other)

Overall Status

Recruiting

CT.gov ID

NCT05687474

Collaborator

Centre Hospitalier Universitaire de Liege (Other), University of Liege (Other)

40,000

Enrollment

Location

Anticipated Duration (Months)

1111.9

Patients Per Site Per Month

Study Details

Study Description

Brief Summary

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.

Condition or Disease	Intervention/Treatment	Phase
Congenital Adrenal Hyperplasia Familial Hyperinsulinemic Hypoglycemia 1 Phosphoglucomutase 1 Deficiency Maturity Onset Diabetes of the Young Cystic Fibrosis Hypophosphatasia, Infantile Congenital Hypothyroidism DAVID 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 DIAR4 Familial Chylomicronemia Lysosomal Acid Lipase Deficiency Familial Hemophagocytic Lymphocytosis Griscelli Syndrome Chediak-Higashi Syndrome Severe Congenital Neutropenia SCID Chronic Granulomatous Disease Menkes Disease X-ALD Smith-Lemli-Opitz Syndrome Ataxia With Vitamin E Deficiency THMD5 THMD4 Thiamine-Responsive Megaloblastic Anemia Thiamine Metabolism Dysfunction Syndrome 2 GOT2 DEFICIENCY 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-Oxoacid Transferase Deficiency Pyridoxine-5'-Phosphate Oxidase Deficiency Pyridoxine-Dependent Epilepsy Propionic Acidemia Pompe Disease Phenylalanine Hydroxylase Deficiency Ornithine Transcarbamylase Deficiency N Acetyl Glutamate Synthethase 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 Spatccm Hyperornithinemia-Hyperammonemia-Homocitrullinuria MRT8, FORMERLY 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 Arginemia ACAD9 Deficiency 3-Hydroxy 3-Methyl Glutaric Aciduria 3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency

Detailed 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.

Baby Detect : Genomic Newborn Screening

Study Details

Study Description

Brief Summary

Detailed Description

Study Design

Arms and Interventions

Outcome Measures

Primary Outcome Measures

Secondary Outcome Measures

Eligibility Criteria

Criteria

Inclusion Criteria:

Exclusion Criteria:

Contacts and Locations

Locations

Sponsors and Collaborators

Investigators

Study Documents (Full-Text)

More Information

Publications

Study Results