Baby Detect : Genomic Newborn Screening

Cystic Fibrosis Clinical Trial

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

Status Recruiting

Clinical Trial 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.

Clinical Trial 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. ;

Related Conditions & MeSH terms

• Acidosis
• Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of
• Adrenal Hyperplasia, Congenital
• Adrenogenital Syndrome
• Adrenoleukodystrophy
• Alpha 1-Antitrypsin Deficiency
• Alpha-Thalassemia
• Alport Syndrome
• Andersen Syndrome
• Anemia
• Anemia, Diamond-Blackfan
• Anemia, Sickle Cell
• Argininosuccinic Aciduria
• Aromatic L-amino Acid Decarboxylase Deficiency
• Ataxia With Vitamin E Deficiency
• Biotinidase Deficiency
• Brain Diseases
• Carbamoyl-Phosphate Synthase I Deficiency Disease
• Cardiomyopathies
• Cardiomyopathy, Hypertrophic
• Cardiomyopathy, Hypertrophic, Familial
• Catecholaminergic Polymorphic Ventricular Tachycardia
• Charcot-Marie-Tooth Disease
• Chediak-Higashi Syndrome
• Cholestasis
• Cholestasis, Intrahepatic
• Chronic Granulomatous Disease
• Citrullinemia
• Citrullinemia 1
• Cobalamin Deficiency
• Congenital Adrenal Hyperplasia
• Congenital Hyperinsulinism
• Congenital Hypothyroidism
• Congenital Myasthenic Syndrome
• Crigler-Najjar Syndrome
• Cystic Fibrosis
• Cystinosis
• Diabetes Insipidus
• Diabetes Insipidus, Nephrogenic
• Diabetes Mellitus
• Diabetes Mellitus, Type 2
• Diamond Blackfan Anemia
• Dopamine Beta Hydroxylase Deficiency
• Familial Chylomicronemia
• Familial Hemophagocytic Lymphocytosis
• Familial Hypophosphatemic Rickets
• Fanconi Anemia
• Fanconi Syndrome
• Galactosemias
• Gaucher Disease
• Gaucher Disease, Type 1
• Glucose 6 Phosphate Dehydrogenase Deficiency
• Glucosephosphate Dehydrogenase Deficiency
• Glut1 Deficiency Syndrome
• Glutaric Acidemia I
• Glycogen Storage Disease
• Glycogen Storage Disease Type II
• Granulomatous Disease, Chronic
• Griscelli Syndrome
• Hemophilia A
• Hemophilia B
• Hereditary Retinoblastoma
• Hereditary Sensory and Motor Neuropathy
• Homocystinuria
• Hyperammonemia
• Hyperekplexia
• Hyperlipoproteinemia Type I
• Hyperoxaluria, Primary
• Hyperplasia
• Hypoglycemia
• Hypophosphatasia
• Hypophosphatemia
• Hypothyroidism
• Immunologic Deficiency Syndromes
• Inflammatory Bowel Diseases
• Lambert-Eaton Myasthenic Syndrome
• Late-Infantile Neuronal Ceroid Lipofuscinosis
• Leukodystrophy, Metachromatic
• Long-chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency
• Lymphocytosis
• Lymphohistiocytosis, Hemophagocytic
• Lysosomal Acid Lipase Deficiency
• Maple Syrup Urine Disease
• Maturity Onset Diabetes of the Young
• Menkes Disease
• Metachromatic Leukodystrophy
• Mucopolysaccharidoses
• Mucopolysaccharidosis I
• Mucopolysaccharidosis II
• Mucopolysaccharidosis IV
• Mucopolysaccharidosis IV A
• Mucopolysaccharidosis VI
• Mucopolysaccharidosis VII
• Myasthenic Syndromes, Congenital
• Nephritis, Hereditary
• Nephrosis
• Nephrotic Syndrome
• Nerve Compression Syndromes
• Nesidioblastosis
• Neuronal Ceroid-Lipofuscinoses
• Neutropenia
• Ornithine Transcarbamylase Deficiency
• Phenylketonurias
• Phosphoglucomutase 1 Deficiency
• Pituitary Diseases
• Polyneuropathies
• Pompe Disease
• Primary Hyperoxaluria
• Progressive Familial Intrahepatic Cholestasis
• Propionic Acidemia
• Pseudohypoaldosteronism
• Pseudohypoaldosteronism Type 1
• Retinoblastoma
• S-Adenosylhomocysteine Hydrolase Deficiency
• Severe Combined Immunodeficiency
• Severe Congenital Neutropenia
• Shwachman-Diamond Syndrome
• Sickle Cell Disease
• Smith-Lemli-Opitz Syndrome
• Stiff-Person Syndrome
• Syndrome
• Tachycardia
• Tachycardia, Ventricular
• Thalassemia
• Tooth Diseases
• Tyrosinemia, Type I
• Tyrosinemias
• Vitamin B 12 Deficiency
• Vitamin E Deficiency
• Wilson Disease
• Wiskott-Aldrich Syndrome
• Wolman Disease

• NCT number: NCT05687474
• Study type: Observational
• Source: Centre Hospitalier Universitaire de Liege
• Contact: Tamara Dangouloff
• Phone: +33662438138
• Email: tamara.dangouloff@uliege.be
• Status: Recruiting
• Start date: September 1, 2022
• Completion date: August 31, 2025