Baby Detect : Genomic Newborn Screening

NCT05687474 | Completed

• 1 other identifier: Baby Detect
• Study Type: observational
• Target: 6,824
• Locations: 1 country
• Sites: 1

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.

Conditions

Congenital Adrenal Hyperplasia; Familial Hyperinsulinemic Hypoglycemia 1; Phosphoglucomutase 1 Deficiency; Maturity Onset Diabetes of the Young; Cystic Fibrosis; Hypophosphatasia, Infantile; Congenital Hypothyroidism; Deficit in Anterior Pituitary Function and Variable Immunodeficiency; 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; Familial Chylomicronemia; Lysosomal Acid Lipase Deficiency; Familial Hemophagocytic Lymphocytosis; Griscelli Syndrome; Chediak-Higashi Syndrome; Severe Congenital Neutropenia; Severe Combined Immune Deficiency; Chronic Granulomatous Disease; Menkes Disease; Adrenoleukodystrophy; Smith-Lemli-Opitz Syndrome; Ataxia With Vitamin E Deficiency; Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type); Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration and Progressive Polyneuropathy Type); Thiamine-Responsive Megaloblastic Anemia; Thiamine Metabolism Dysfunction Syndrome 2; Deficiency of GOT2; 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-Ketoacid Coa-Transferase Deficiency; Pyridoxine-5'-Phosphate Oxidase Deficiency; Pyridoxine-Dependent Epilepsy; Propionic Acidemia; Pompe Disease; Phenylalanine Hydroxylase Deficiency; Ornithine Transcarbamylase Deficiency; N Acetyl Glutamate Synthetase 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; Hyperornithinemia-Hyperammonemia-Homocitrullinuria; 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; Argininemia; Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of; 3-Hydroxy 3-Methyl Glutaric Aciduria; 3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency

Outcome Measures

Primary Outcomes (3)

• 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 Outcomes (3)

• Consequence of NBS on early treatment access - timing

  through study completion, an average of 1 year

• Consequence of NBS on early treatment access - frequency

  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.

  through study completion, an average of 1 year

Study Arms (1)

Newborns with consent

Newborns with parent's consent

Eligibility Criteria

• Age: Up to 28 Days
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17)
• 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

You may qualify if:

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

You may not qualify if:

• \+ 28 days
• Non consent of parent

Sponsors & Collaborators

• Centre Hospitalier Universitaire de Liege: lead
• Centre Hospitalier Régional de la Citadelle: collaborator
• University of Liege: collaborator
• Sanofi: collaborator
• Orchard Therapeutics: collaborator
• Takeda: collaborator
• Zentech-Lacar Company: collaborator
• Leon Fredericq Foundation: collaborator

Study Sites (1)

CRMN, Hôpital La Citadelle

Liège, Wallonia, 4000, Belgium

Location

Related Publications (2)

• Boemer F, Hovhannesyan K, Piazzon F, Minner F, Mni M, Jacquemin V, Mashhadizadeh D, Benmhammed N, Bours V, Jacquinet A, Harvengt J, Bulk S, Dideberg V, Helou L, Palmeira L, Dangouloff T; BabyDetect Expert Panel; Servais L. Population-based, first-tier genomic newborn screening in the maternity ward. Nat Med. 2025 Apr;31(4):1339-1350. doi: 10.1038/s41591-024-03465-x. Epub 2025 Jan 28.

  PMID: 39875687 BACKGROUND

• Dangouloff T, Hovhannesyan K, Mashhadizadeh D, Minner F, Mni M, Helou L, Piazzon F, Palmeira L, Boemer F, Servais L. Feasibility and Acceptability of a Newborn Screening Program Using Targeted Next-Generation Sequencing in One Maternity Hospital in Southern Belgium. Children (Basel). 2024 Jul 30;11(8):926. doi: 10.3390/children11080926.

  PMID: 39201861 BACKGROUND

Related Links

• Related Info

Biospecimen

Retention: SAMPLES WITH DNA

4 drops of dried blood on a blotter.

MeSH Terms

Conditions

Adrenal Hyperplasia, Congenital; Congenital Hyperinsulinism; Glycogen Storage Disease XIV; Diabetes Mellitus, Type 2; Cystic Fibrosis; Hypophosphatasia, Infantile; Congenital Hypothyroidism; Combined Pituitary Hormone Deficiency; Anemia, Diamond-Blackfan; Wiskott-Aldrich Syndrome; Fanconi Anemia; Hemophilia A; Hemophilia B; Glucosephosphate Dehydrogenase Deficiency; alpha-Thalassemia; Anemia, Sickle Cell; Shwachman-Diamond Syndrome; alpha 1-Antitrypsin Deficiency; Inflammatory Bowel Disease 25, Autosomal Recessive; Hepatolenticular Degeneration; Cholestasis, progressive familial intrahepatic 1; Crigler-Najjar Syndrome; Hyperlipoproteinemia Type I; Wolman Disease; Lymphohistiocytosis, Hemophagocytic; Chediak-Higashi Syndrome; Neutropenia, Severe Congenital, Autosomal Recessive 3; Severe Combined Immunodeficiency; Granulomatous Disease, Chronic; Menkes Kinky Hair Syndrome; Adrenoleukodystrophy; Smith-Lemli-Opitz Syndrome; Ataxia with vitamin E deficiency; Basal ganglia disease, biotin-responsive; Neurodegeneration Due To Cerebral Folate Transport Deficiency; Segawa syndrome, autosomal recessive; Myasthenic Syndromes, Congenital; Leukodystrophy, Metachromatic; Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency; dopamine beta hydroxylase deficiency; Glut1 Deficiency Syndrome; Neuronal Ceroid-Lipofuscinoses; Aromatic amino acid decarboxylase deficiency; Charcot-Marie-Tooth Disease; Stiff-Person Syndrome; Tyrosinemias; Sucrase-isomaltase deficiency, congenital; Beta ketothiolase deficiency; Phosphoglycerate Dehydrogenase Deficiency; Succinyl-CoA:3-oxoacid CoA transferase deficiency; Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency; Pyridoxine-dependent epilepsy; Propionic Acidemia; Glycogen Storage Disease Type II; Phenylketonurias; Ornithine Carbamoyltransferase Deficiency Disease; Aspartylglucosaminuria; Riboflavin Deficiency; Maple Syrup Urine Disease; Medium chain acyl CoA dehydrogenase deficiency; Malonic aciduria; Trifunctional Protein Deficiency With Myopathy And Neuropathy; Acidemia, isovaleric; Phosphoserine Aminotransferase Deficiency; HHH syndrome; Hypermethioninemia; Mucopolysaccharidosis VII; Mucopolysaccharidosis VI; Mucopolysaccharidosis IV; Mucopolysaccharidosis II; Mucopolysaccharidosis I; Methylmalonic acidemia; Vitamin B 12 Deficiency; Homocystinuria; Holocarboxylase Synthetase Deficiency; Fanconi Syndrome; Glycogen Storage Disease; Hyperglycinemia, Nonketotic; Glutaric Acidemia I; Glucose-Galactose Malabsorption; Gaucher Disease; Galactosemias; Fructose Intolerance; Fructose-1,6-Diphosphatase Deficiency; Carbamoyl-Phosphate Synthase I Deficiency Disease; Neonatal-onset citrullinemia type 2; Citrullinemia; Systemic carnitine deficiency; Carnitine palmitoyl transferase 2 deficiency; Carnitine palmitoyl transferase 1A deficiency; Carnitine-Acylcarnitine Translocase Deficiency; Brown-Vialetto-Van Laere syndrome; Andersen Syndrome; Timothy syndrome; Jervell-Lange Nielsen Syndrome; Polymorphic Catecholaminergic Ventricular Tachycardia; Cardiomyopathy, Familial Hypertrophic, 4; Pseudohypoaldosteronism; Hyperoxaluria, Primary; Familial Hypophosphatemic Rickets; Diabetes Insipidus, Nephrogenic; Cystinosis; Nephrosis, congenital; Nephritis, Hereditary; Retinoblastoma; Biotinidase Deficiency; Argininosuccinic Aciduria; Hyperargininemia; Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of; 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency; 3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency

Condition Hierarchy (Ancestors)

Adrenogenital Syndrome; Disorders of Sex Development; Urogenital Abnormalities; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Male Urogenital Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn; Steroid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Metabolic Diseases; Nutritional and Metabolic Diseases; Adrenal Gland Diseases; Endocrine System Diseases; Gonadal Disorders; Pancreatic Diseases; Digestive System Diseases; Infant, Newborn, Diseases; Hyperinsulinism; Glucose Metabolism Disorders; Hypoglycemia; Diabetes Mellitus; Lung Diseases; Respiratory Tract Diseases; Dwarfism; Bone Diseases, Developmental; Bone Diseases; Musculoskeletal Diseases; Bone Diseases, Endocrine; Hypothyroidism; Thyroid Diseases; Anemia, Hypoplastic, Congenital; Anemia, Aplastic; Anemia; Hematologic Diseases; Hemic and Lymphatic Diseases; Red-Cell Aplasia, Pure; Congenital Bone Marrow Failure Syndromes; Bone Marrow Failure Disorders; Bone Marrow Diseases; Blood Coagulation Disorders, Inherited; Blood Coagulation Disorders; Lymphopenia; Leukopenia; Cytopenia; Hemorrhagic Disorders; Leukocyte Disorders; Genetic Diseases, X-Linked; Primary Immunodeficiency Diseases; Immunologic Deficiency Syndromes; Immune System Diseases; DNA Repair-Deficiency Disorders; Coagulation Protein Disorders; Anemia, Hemolytic, Congenital; Anemia, Hemolytic; Carbohydrate Metabolism, Inborn Errors; Thalassemia; Hemoglobinopathies; Exocrine Pancreatic Insufficiency; Lipid Metabolism, Inborn Errors; Lipid Metabolism Disorders; Lipomatosis; Liver Diseases; Subcutaneous Emphysema; Emphysema; Pathologic Processes; Pathological Conditions, Signs and Symptoms; Basal Ganglia Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Movement Disorders; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Metal Metabolism, Inborn Errors; Hyperbilirubinemia, Hereditary; Hyperlipoproteinemias; Hyperlipidemias; Dyslipidemias; Cholesterol Ester Storage Disease; Lipidoses; Lysosomal Storage Diseases; Histiocytosis, Non-Langerhans-Cell; Histiocytosis; Lymphatic Diseases; Albinism; Eye Diseases, Hereditary; Eye Diseases; Phagocyte Bactericidal Dysfunction; Chronic Disease; Disease Attributes; X-Linked Intellectual Disability; Intellectual Disability; Neurobehavioral Manifestations; Neurologic Manifestations; Hair Diseases; Skin Diseases; Skin and Connective Tissue Diseases; Hereditary Central Nervous System Demyelinating Diseases; Leukoencephalopathies; Demyelinating Diseases; Peroxisomal Disorders; Adrenal Insufficiency; Abnormalities, Multiple; Neuromuscular Junction Diseases; Neuromuscular Diseases; Sulfatidosis; Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Hereditary Sensory and Motor Neuropathy; Nervous System Malformations; Polyneuropathies; Peripheral Nervous System Diseases; Autoimmune Diseases of the Nervous System; Spinal Cord Diseases; Autoimmune Diseases; Amino Acid Metabolism, Inborn Errors; Urea Cycle Disorders, Inborn; Vitamin B Deficiency; Avitaminosis; Deficiency Diseases; Malnutrition; Nutrition Disorders; Mucopolysaccharidoses; Mucinoses; Connective Tissue Diseases; Hyperhomocysteinemia; Multiple Carboxylase Deficiency; Renal Tubular Transport, Inborn Errors; Kidney Diseases; Urologic Diseases; Fructose Metabolism, Inborn Errors; Mitochondrial Diseases; Long QT Syndrome; Arrhythmias, Cardiac; Heart Diseases; Cardiovascular Diseases; Cardiac Conduction System Disease; Heart Defects, Congenital; Cardiovascular Abnormalities; Tachycardia, Ventricular; Tachycardia; Hyperoxaluria; Rickets, Hypophosphatemic; Rickets; Bone Diseases, Metabolic; Hypophosphatemia, Familial; Calcium Metabolism Disorders; Hypophosphatemia; Phosphorus Metabolism Disorders; Vitamin D Deficiency; Diabetes Insipidus; Nephritis; Collagen Diseases; Neoplasms, Neuroepithelial; Neuroectodermal Tumors; Neoplasms, Germ Cell and Embryonal; Neoplasms by Histologic Type; Neoplasms; Neoplasms, Glandular and Epithelial; Neoplasms, Nerve Tissue; Retinal Neoplasms; Eye Neoplasms; Neoplasms by Site; Retinal Diseases

Study Officials

• Laurent Servais

  Centre Hospitalier Universitaire de Liege

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Professor

Study Record Dates

• First Submitted: December 28, 2022
• First Posted: January 18, 2023
• Study Start: September 1, 2022
• Primary Completion: June 2, 2025
• Study Completion: June 2, 2025
• Last Updated: August 12, 2025

Record last verified: 2025-08

Locations

BE (1)