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Baby Detect : Genomic Newborn Screening

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT05687474
Recruitment Status : Recruiting
First Posted : January 18, 2023
Last Update Posted : October 25, 2023
Sponsor:
Collaborators:
Centre Hospitalier Universitaire de Liege
University of Liege
Sanofi
Orchard Therapeutics
Takeda
Zentech-Lacar Company
Leon Fredericq Foundation
Information provided by (Responsible Party):
Laurent Servais, Centre Hospitalier Régional de la Citadelle

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
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

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.

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Study Type : Observational
Estimated Enrollment : 6000 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Universal Genomic Newborn Screening in the Wallonia-Brussels Federation: Baby Detect
Actual Study Start Date : September 1, 2022
Estimated Primary Completion Date : August 31, 2025
Estimated Study Completion Date : August 31, 2025

Resource links provided by the National Library of Medicine

MedlinePlus Genetics related topics: Sepiapterin reductase deficiency Congenital nephrotic syndrome Jervell and Lange-Nielsen syndrome Malonyl-CoA decarboxylase deficiency Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency Carbamoyl phosphate synthetase I deficiency Citrullinemia Transcobalamin deficiency Hemophilia Carnitine palmitoyltransferase I deficiency Fanconi anemia Nonketotic hyperglycinemia Cerebral folate transport deficiency Charcot-Marie-Tooth disease Hereditary hyperekplexia Shwachman-Diamond syndrome N-acetylglutamate synthase deficiency Griscelli syndrome Phosphoglycerate dehydrogenase deficiency Beta-ketothiolase deficiency Isovaleric acidemia Dopamine beta-hydroxylase deficiency Ataxia with vitamin E deficiency 3-hydroxyacyl-CoA dehydrogenase deficiency Holocarboxylase synthetase deficiency 3-hydroxy-3-methylglutaryl-CoA lyase deficiency Succinyl-CoA:3-ketoacid CoA transferase deficiency Ornithine translocase deficiency Timothy syndrome Pyridoxal 5'-phosphate-dependent epilepsy Carnitine-acylcarnitine translocase deficiency
Genetic and Rare Diseases Information Center resources: Chronic Graft Versus Host Disease Sickle Cell Anemia Cystic Fibrosis Leukodystrophy Hemophilia Hemophilia A Retinoblastoma Thalassemia Granulocytopenia Familial Lipoprotein Lipase Deficiency Hemophilia B Phenylketonuria Mucopolysaccharidosis Charcot-Marie-Tooth Disease Hereditary Neuropathy With Liability to Pressure Palsies Roussy Levy Syndrome Chronic Granulomatous Disease Tyrosinemia Type 1 Tyrosinemia Type 2 Tyrosinemia Type 3 Maple Syrup Urine Disease Wolman Disease Cholesteryl Ester Storage Disease Lysosomal Acid Lipase Deficiency Primary Hyperoxaluria Type 1 Alport Syndrome Gaucher Disease Congenital Adrenal Hyperplasia Ornithine Transcarbamylase Deficiency X-linked Hypophosphatemia Homocystinuria X-linked Adrenoleukodystrophy Adrenomyeloneuropathy Glutaric Acidemia Type I Congenital Aplastic Anemia Fanconi Anemia Fanconi Syndrome Cerebral Folate Deficiency Congenital Hyperinsulinism Andersen-Tawil Syndrome Neuronal Ceroid Lipofuscinosis Wilson Disease Alpha-1 Antitrypsin Deficiency Glycogen Storage Disease Type 2 Hypophosphatasia 21-hydroxylase Deficiency Mucopolysaccharidosis Type I Maturity-onset Diabetes of the Young Alpha-thalassemia Hereditary Fructose Intolerance Lambert Eaton Myasthenic Syndrome Congenital Myasthenic Syndromes Mucopolysaccharidosis Type II Medium-chain Acyl-coenzyme A Dehydrogenase Deficiency Mucopolysaccharidosis Type IV Cystinosis Nephrogenic Diabetes Insipidus Glucose-galactose Malabsorption Shwachman-Diamond Syndrome Pyridoxine-dependent Epilepsy Congenital Hypothyroidism Mucopolysaccharidosis Type VI Mucopolysaccharidosis Type VII Catecholaminergic Polymorphic Ventricular Tachycardia Primary Carnitine Deficiency Methylmalonic Acidemia LCHAD Deficiency Mitochondrial Trifunctional Protein Deficiency Biotinidase Deficiency Carnitine-acylcarnitine Translocase Deficiency N-acetylglutamate Synthase Deficiency Isovaleric Acidemia Beta Ketothiolase Deficiency Arginase Deficiency Glycine Encephalopathy Malonyl-CoA Decarboxylase Deficiency HMG CoA Lyase Deficiency Carnitine Palmitoyl Transferase 1A Deficiency Glucose Transporter Type 1 Deficiency Syndrome Glucose-6-phosphate Dehydrogenase Deficiency Mucopolysaccharidosis Type IVA Diamond-Blackfan Anemia Congenital Sucrase-isomaltase Deficiency Adult Neuronal Ceroid Lipofuscinosis Propionic Acidemia Familial Hemophagocytic Lymphohistiocytosis Metachromatic Leukodystrophy Progressive Familial Intrahepatic Cholestasis 1 Wiskott Aldrich Syndrome Smith-Lemli-Opitz Syndrome Galactosemia Infantile Neuronal Ceroid Lipofuscinosis Severe Congenital Neutropenia Chediak-Higashi Syndrome Crigler Najjar Syndrome, Type 1 Severe Combined Immunodeficiency Menkes Disease Dopamine Beta Hydroxylase Deficiency Familial Hypertrophic Cardiomyopathy Aromatic L-amino Acid Decarboxylase Deficiency PGM1-CDG Griscelli Syndrome Jervell Lange-Nielsen Syndrome Ataxia With Vitamin E Deficiency Tyrosine Hydroxylase Deficiency Holocarboxylase Synthetase Deficiency Multiple Carboxylase Deficiency Riboflavin Transporter Deficiency Timothy Syndrome Citrullinemia Type II Fructose-1,6-bisphosphatase Deficiency Fanconi Bickel Syndrome Phosphoserine Aminotransferase Deficiency Pyridoxal 5'-phosphate-dependent Epilepsy SCOT Deficiency Brain Dopamine-serotonin Vesicular Transport Disease Hereditary Hyperekplexia Sepiapterin Reductase Deficiency Biotin-thiamine-responsive Basal Ganglia Disease Childhood Encephalopathy Due to Thiamine Pyrophosphokinase Deficiency Classic Galactosemia Galactose Epimerase Deficiency Gyrate Atrophy of Choroid and Retina Citrullinemia Type I Ornithinemia Dilated Cardiomyopathy With Hypergonadotropic Hypogonadism Rickets Hypophosphatemic Rickets Argininosuccinic Aciduria Carbamoyl Phosphate Synthetase 1 Deficiency Stiff Person Syndrome Aortic Valve Stenosis Sphingolipidosis Neuroepithelioma Peroxisomal Biogenesis Disorders Pure Red Cell Aplasia Myasthenia Gravis Inborn Amino Acid Metabolism Disorder Urea Cycle Disorders Multiple Symmetric Lipomatosis Albinism Non-Langerhans-Cell Histiocytosis

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



Primary Outcome Measures :
  1. Acceptability [ Time Frame: through study completion, an average of 1 year ]
    The percentage of parents accepting the proposed screening in comparison with the number of mothers approached for consent

  2. Feasibility - timing [ Time Frame: through study completion, an average of 1 year ]
    The Turn-around time for the different mutations that are screened

  3. Feasibility - reliability [ Time Frame: through study completion, an average of 1 year ]
    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.


Secondary Outcome Measures :
  1. Consequence of NBS on early treatment access - timing [ Time Frame: through study completion, an average of 1 year ]
    The time passed between the birth of diagnostic-positive newborns to the initiation of their treatment

  2. Consequence of NBS on early treatment access - frequency [ Time Frame: through study completion, an average of 1 year ]
    The number of patients offered early treatment

  3. To improve the detection technique for disease related mutations that are not detected in classical screening by improving the classification of unspecified variants. [ Time Frame: through study completion, an average of 1 year ]
    The number of new mutations implemented yearly in the NBS.


Biospecimen Retention:   Samples With DNA
4 drops of dried blood on a blotter.


Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


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Ages Eligible for Study:   up to 28 Days   (Child)
Sexes Eligible for Study:   All
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
Criteria

Inclusion Criteria:

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

Exclusion Criteria:

  • + 28 days
  • Non consent of parent

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT05687474


Contacts
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Contact: Tamara Dangouloff +33662438138 tamara.dangouloff@uliege.be
Contact: François Boemer +3243667696 F.Boemer@chuliege.be

Locations
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Belgium
CRMN, Hôpital La Citadelle Recruiting
Liege, Wallonia, Belgium, 4000
Contact: Laurent Servais, MD, PhD    +3243216127    laurent.servais@paediatrics.ox.ac.uk   
Contact: Tamara Dangouloff, PhD    +33662438138    tdangouloff.screeningsma@gmail.com   
Sub-Investigator: Francois Boemer, PhD         
Sponsors and Collaborators
Centre Hospitalier Régional de la Citadelle
Centre Hospitalier Universitaire de Liege
University of Liege
Sanofi
Orchard Therapeutics
Takeda
Zentech-Lacar Company
Leon Fredericq Foundation
Investigators
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Principal Investigator: Laurent Servais Centre Hospitalier Universitaire de Liege
Additional Information:
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Responsible Party: Laurent Servais, Professor, Centre Hospitalier Régional de la Citadelle
ClinicalTrials.gov Identifier: NCT05687474    
Other Study ID Numbers: 2021-239
First Posted: January 18, 2023    Key Record Dates
Last Update Posted: October 25, 2023
Last Verified: October 2023

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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DNA Repair-Deficiency Disorders
Retinoblastoma
Lambert-Eaton Myasthenic Syndrome
Familial Hypophosphatemic Rickets
Congenital Hypothyroidism
Osteochondrodysplasias
Cystic Fibrosis
Inflammatory Bowel Diseases
Cholestasis
Alpha 1-Antitrypsin Deficiency
Hepatolenticular Degeneration
Cholestasis, Intrahepatic
Congenital Hyperinsulinism
Nesidioblastosis
Shwachman-Diamond Syndrome
Tooth Diseases
Brain Diseases
Pituitary Diseases
Polyneuropathies
Gaucher Disease
Glycogen Storage Disease Type II
Charcot-Marie-Tooth Disease
Nerve Compression Syndromes
Hereditary Sensory and Motor Neuropathy
Adrenoleukodystrophy
Neuronal Ceroid-Lipofuscinoses
Leukodystrophy, Metachromatic
Mucopolysaccharidosis II
Tyrosinemias
Ornithine Carbamoyltransferase Deficiency Disease