Baby Detect : Genomic Newborn Screening
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ClinicalTrials.gov Identifier: NCT05687474 |
Recruitment Status :
Recruiting
First Posted : January 18, 2023
Last Update Posted : April 24, 2024
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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 |
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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 |
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 |
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 |
Group/Cohort |
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Newborns with consent
Newborns with parent's consent
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- 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
- Feasibility - timing [ Time Frame: through study completion, an average of 1 year ]The Turn-around time for the different mutations that are screened
- 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.
- 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
- 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
- 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
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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 |
Inclusion Criteria:
- newborn between birth and 28 days of life
- consent of parent
Exclusion Criteria:
- + 28 days
- Non consent of parent
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
Contact: Tamara Dangouloff | +33662438138 | tamara.dangouloff@uliege.be | |
Contact: François Boemer | +3243667696 | F.Boemer@chuliege.be |
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 |
Principal Investigator: | Laurent Servais | Centre Hospitalier Universitaire de Liege |
Responsible Party: | Laurent Servais, Professor, Centre Hospitalier Universitaire de Liege |
ClinicalTrials.gov Identifier: | NCT05687474 |
Other Study ID Numbers: |
2021-239 |
First Posted: | January 18, 2023 Key Record Dates |
Last Update Posted: | April 24, 2024 |
Last Verified: | April 2024 |
Studies a U.S. FDA-regulated Drug Product: | No |
Studies a U.S. FDA-regulated Device Product: | No |
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 Leukodystrophy, Metachromatic Neuronal Ceroid-Lipofuscinoses Mucopolysaccharidosis II Tyrosinemias Ornithine Carbamoyltransferase Deficiency Disease Homocystinuria |