Baby Detect : Genomic Newborn Screening

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

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.

Study Overview

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

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.

• Study Type: Observational
• Enrollment (Estimated): 6000

Contacts and Locations

• Study Contact: Name: Tamara Dangouloff; Phone Number: +33662438138; Email: tamara.dangouloff@uliege.be
• Study Contact Backup: Name: François Boemer; Phone Number: +3243667696; Email: F.Boemer@chuliege.be

Study Locations

• Belgium
  • Wallonia
    • Liege, Wallonia, Belgium, 4000
      • Recruiting
      • CRMN, Hôpital La Citadelle
      • Contact: Laurent Servais, MD, PhD; Phone Number: +3243216127; Email: laurent.servais@paediatrics.ox.ac.uk
      • Contact: Tamara Dangouloff, PhD; Phone Number: +33662438138; Email: tdangouloff.screeningsma@gmail.com
      • Sub-Investigator: Francois Boemer, PhD

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: No older than 4 weeks (Child)
• Accepts Healthy Volunteers: Yes

• Sampling Method: Non-Probability Sample

Study Population

Newborns whose mothers and/or the second-parents meet the inclusion criteria and have provided their consent to take part in the study

Description

Inclusion Criteria:

• newborn between birth and 28 days of life
• consent of parent

Exclusion Criteria:

• + 28 days
• Non consent of parent

Study Plan

How is the study designed?

Design Details

• Observational Models: Other
• Time Perspectives: Prospective

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort
Newborns with consent; Newborns with parent's consent

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Acceptability	The percentage of parents accepting the proposed screening in comparison with the number of mothers approached for consent	through study completion, an average of 1 year
Feasibility - timing	The Turn-around time for the different mutations that are screened	through study completion, an average of 1 year
Feasibility - reliability	The percentage of false positives and the predicted value for each test The estimation of the false negatives through collaboration with physicians treating the different diseases.	through study completion, an average of 1 year

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Consequence of NBS on early treatment access - timing	The time passed between the birth of diagnostic-positive newborns to the initiation of their treatment	through study completion, an average of 1 year
Consequence of NBS on early treatment access - frequency	The number of patients offered early treatment	through study completion, an average of 1 year
To improve the detection technique for disease related mutations that are not detected in classical screening by improving the classification of unspecified variants.	The number of new mutations implemented yearly in the NBS.	through study completion, an average of 1 year

Collaborators and Investigators

• Sponsor: Centre Hospitalier Universitaire de Liege
• Collaborators: Sanofi; Takeda; University of Liege; Orchard Therapeutics; Centre Hospitalier Régional de la Citadelle; Zentech-Lacar Company; Leon Fredericq Foundation
• Investigators: Principal Investigator: Laurent Servais, Centre Hospitalier Universitaire de Liege

Publications and helpful links

Helpful Links

• Related Info

Study record dates

Study Major Dates

• Study Start (Actual): September 1, 2022
• Primary Completion (Estimated): August 31, 2025
• Study Completion (Estimated): August 31, 2025

Study Registration Dates

• First Submitted: December 28, 2022
• First Submitted That Met QC Criteria: January 13, 2023
• First Posted (Actual): January 18, 2023

Study Record Updates

• Last Update Posted (Actual): April 24, 2024
• Last Update Submitted That Met QC Criteria: April 23, 2024
• Last Verified: April 1, 2024

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Digestive System Diseases; Pathologic Processes; Heart Diseases; Cardiovascular Diseases; Glucose Metabolism Disorders; Metabolic Diseases; Central Nervous System Diseases; Nervous System Diseases; Skin Diseases; Respiratory Tract Diseases; Immune System Diseases; Neoplasms by Histologic Type; Neoplasms; Lymphatic Diseases; Autoimmune Diseases of the Nervous System; Demyelinating Diseases; Autoimmune Diseases; Lung Diseases; Neoplasms by Site; Kidney Diseases; Urologic Diseases; Neoplasms, Glandular and Epithelial; Eye Diseases; Neurologic Manifestations; Neurobehavioral Manifestations; Endocrine System Diseases; Disease Attributes; Disease; Gonadal Disorders; Disorders of Sex Development; Urogenital Abnormalities; Congenital Abnormalities; Bone Marrow Diseases; Hematologic Diseases; Gastrointestinal Diseases; Infant, Newborn, Diseases; Retinal Diseases; Liver Diseases; Nutrition Disorders; Blood Coagulation Disorders, Inherited; Coagulation Protein Disorders; Hemorrhagic Disorders; Genetic Diseases, Inborn; Genetic Diseases, X-Linked; Musculoskeletal Diseases; Connective Tissue Diseases; Gastroenteritis; Thyroid Diseases; Neuromuscular Diseases; Stomatognathic Diseases; Basal Ganglia Diseases; Movement Disorders; Neurodegenerative Diseases; Neoplasms, Neuroepithelial; Neuroectodermal Tumors; Neoplasms, Germ Cell and Embryonal; Neoplasms, Nerve Tissue; Peripheral Nervous System Diseases; Intestinal Diseases; Arrhythmias, Cardiac; Aortic Valve Disease; Heart Valve Diseases; Spinal Cord Diseases; Hypothalamic Diseases; Nervous System Neoplasms; Hyperinsulinism; Avitaminosis; Deficiency Diseases; Malnutrition; Eye Diseases, Hereditary; Cardiac Conduction System Disease; Bone Diseases; Blood Coagulation Disorders; Carbohydrate Metabolism, Inborn Errors; Metabolism, Inborn Errors; Lysosomal Storage Diseases; Mucinoses; Mental Retardation, X-Linked; Intellectual Disability; Heredodegenerative Disorders, Nervous System; DNA Repair-Deficiency Disorders; Lipid Metabolism Disorders; Agranulocytosis; Leukopenia; Leukocyte Disorders; Biliary Tract Diseases; Fructose Metabolism, Inborn Errors; Hyperlipidemias; Dyslipidemias; Pancreatic Diseases; Brain Diseases, Metabolic; Bone Diseases, Metabolic; Paraneoplastic Syndromes, Nervous System; Paraneoplastic Syndromes; Neuromuscular Junction Diseases; Subcutaneous Emphysema; Mitochondrial Diseases; Brain Diseases, Metabolic, Inborn; Amino Acid Metabolism, Inborn Errors; Anemia, Hemolytic, Congenital; Anemia, Hemolytic; Hemoglobinopathies; Heart Defects, Congenital; Cardiovascular Abnormalities; Anemia, Hypoplastic, Congenital; Anemia, Aplastic; Congenital Bone Marrow Failure Syndromes; Bone Marrow Failure Disorders; Renal Tubular Transport, Inborn Errors; Nervous System Malformations; Nephritis; Bone Diseases, Endocrine; Abnormalities, Multiple; Calcium Metabolism Disorders; Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Lipidoses; Lipid Metabolism, Inborn Errors; Dwarfism; Bone Diseases, Developmental; Vitamin B Deficiency; Leukoencephalopathies; Phagocyte Bactericidal Dysfunction; Bile Duct Diseases; Metal Metabolism, Inborn Errors; Histiocytosis, Non-Langerhans-Cell; Histiocytosis; Hyperlipoproteinemias; Eye Neoplasms; Retinal Neoplasms; Adrenal Gland Diseases; Urea Cycle Disorders, Inborn; Hair Diseases; Aortic Stenosis, Subvalvular; Aortic Valve Stenosis; Myasthenia Gravis; Acid-Base Imbalance; Phosphorus Metabolism Disorders; Steroid Metabolism, Inborn Errors; Collagen Diseases; Primary Immunodeficiency Diseases; Cholesterol Ester Storage Disease; Rickets; Vitamin D Deficiency; Lymphopenia; Rickets, Hypophosphatemic; Hypophosphatemia, Familial; Emphysema; Hereditary Central Nervous System Demyelinating Diseases; Peroxisomal Disorders; Adrenal Insufficiency; Sulfatidosis; Red-Cell Aplasia, Pure; Hyperbilirubinemia, Hereditary; Lipomatosis; Albinism; Exocrine Pancreatic Insufficiency; Hyperoxaluria; Chronic Disease; Leukocytosis; Long QT Syndrome; Hyperhomocysteinemia; Anemia, Macrocytic; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Male Urogenital Diseases; Cytopenia; Diabetes Mellitus; Diabetes Mellitus, Type 2; Syndrome; Hemophilia A; Hemophilia B; Hypothyroidism; Inflammatory Bowel Diseases; Pituitary Diseases; Hyperplasia; Mucopolysaccharidosis II; Mucopolysaccharidoses; Mucopolysaccharidosis I; Hypoglycemia; Neutropenia; Brain Diseases; Immunologic Deficiency Syndromes; Cystic Fibrosis; Anemia; Alpha 1-Antitrypsin Deficiency; Tachycardia; Tachycardia, Ventricular; Phenylketonurias; Anemia, Sickle Cell; Fanconi Syndrome; Fanconi Anemia; Cardiomyopathies; Polyneuropathies; Vitamin B 12 Deficiency; Granulomatous Disease, Chronic; Hepatolenticular Degeneration; Thalassemia; Retinoblastoma; Ornithine Carbamoyltransferase Deficiency Disease; Nephrotic Syndrome; Nephrosis; Cholestasis; Cardiomyopathy, Hypertrophic; Adrenal Hyperplasia, Congenital; Adrenogenital Syndrome; Lymphohistiocytosis, Hemophagocytic; Severe Combined Immunodeficiency; Acidosis; Wolman Disease; Wiskott-Aldrich Syndrome; Familial Hypophosphatemic Rickets; Hypophosphatemia; Propionic Acidemia; Adrenoleukodystrophy; Glycogen Storage Disease Type II; Glycogen Storage Disease; Neuronal Ceroid-Lipofuscinoses; Cholestasis, Intrahepatic; Leukodystrophy, Metachromatic; Hypophosphatasia; Tooth Diseases; Diabetes Insipidus; Gaucher Disease; Osteochondrodysplasias; Hyperammonemia; Anemia, Diamond-Blackfan; Nerve Compression Syndromes; Charcot-Marie-Tooth Disease; Hereditary Sensory and Motor Neuropathy; Crigler-Najjar Syndrome; Galactosemias; Lambert-Eaton Myasthenic Syndrome; Congenital Hyperinsulinism; Nesidioblastosis; Shwachman-Diamond Syndrome; Congenital Hypothyroidism; alpha-Thalassemia; Carbamoyl-Phosphate Synthase I Deficiency Disease; Hyperlipoproteinemia Type I; Chediak-Higashi Syndrome; Hyperoxaluria, Primary; Cystinosis; Tyrosinemias; Mucopolysaccharidosis IV; Lymphocytosis; Nephritis, Hereditary; Citrullinemia; Smith-Lemli-Opitz Syndrome; Mucopolysaccharidosis VI; Mucopolysaccharidosis VII; Vitamin E Deficiency; Glucosephosphate Dehydrogenase Deficiency; Stiff-Person Syndrome; Argininosuccinic Aciduria; Maple Syrup Urine Disease; Myasthenic Syndromes, Congenital; Cardiomyopathy, Hypertrophic, Familial; Biotinidase Deficiency; Andersen Syndrome; Menkes Kinky Hair Syndrome; Diabetes Insipidus, Nephrogenic; Homocystinuria; Hyperglycinemia, Nonketotic; Pseudohypoaldosteronism; Hyperekplexia; Jervell-Lange Nielsen Syndrome; Anemia, Megaloblastic; Fructose-1,6-Diphosphatase Deficiency; Holocarboxylase Synthetase Deficiency; Multiple Carboxylase Deficiency; Riboflavin Deficiency
• Other Study ID Numbers: 2021-239

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No