Trial Title:
Baby Detect : Genomic Newborn Screening
NCT ID:
NCT05687474
Condition:
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
Conditions: Official terms:
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
Homocystinuria
Tyrosinemias
Ornithine Carbamoyltransferase Deficiency Disease
Galactosemias
Myasthenic Syndromes, Congenital
Maple Syrup Urine Disease
Citrullinemia
Menkes Kinky Hair Syndrome
Hyperekplexia
Phenylketonurias
Stiff-Person Syndrome
Hyperglycinemia, Nonketotic
Carbamoyl-Phosphate Synthase I Deficiency Disease
Argininosuccinic Aciduria
Chediak-Higashi Syndrome
Nephrotic Syndrome
Nephrosis
Adrenal Hyperplasia, Congenital
Adrenogenital Syndrome
Fanconi Syndrome
Hyperoxaluria, Primary
Diabetes Insipidus
Nephritis, Hereditary
Diabetes Insipidus, Nephrogenic
Pseudohypoaldosteronism
Cardiomyopathies
Tachycardia
Tachycardia, Ventricular
Cardiomyopathy, Hypertrophic
Andersen Syndrome
Cardiomyopathy, Hypertrophic, Familial
Jervell-Lange Nielsen Syndrome
Anemia
Hemophilia A
Anemia, Sickle Cell
Thalassemia
Neutropenia
Hemophilia B
Fanconi Anemia
Granulomatous Disease, Chronic
Anemia, Diamond-Blackfan
Wiskott-Aldrich Syndrome
Lymphocytosis
alpha-Thalassemia
Glucosephosphate Dehydrogenase Deficiency
Lymphohistiocytosis, Hemophagocytic
Anemia, Megaloblastic
Mucopolysaccharidoses
Glycogen Storage Disease
Hypophosphatasia
Cystinosis
Mucopolysaccharidosis I
Wolman Disease
Smith-Lemli-Opitz Syndrome
Hyperlipoproteinemia Type I
Propionic Acidemia
Crigler-Najjar Syndrome
Mucopolysaccharidosis VI
Mucopolysaccharidosis IV
Severe Combined Immunodeficiency
Mucopolysaccharidosis VII
Biotinidase Deficiency
Holocarboxylase Synthetase Deficiency
Multiple Carboxylase Deficiency
Fructose-1,6-Diphosphatase Deficiency
Diabetes Mellitus
Hypoglycemia
Hypophosphatemia
Acidosis
Diabetes Mellitus, Type 2
Vitamin E Deficiency
Vitamin B 12 Deficiency
Riboflavin Deficiency
Hypothyroidism
Immunologic Deficiency Syndromes
Syndrome
Hyperplasia
Hyperammonemia
Study type:
Observational
Overall status:
Recruiting
Study design:
Time perspective:
Prospective
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.
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.
Criteria for eligibility:
Study pop:
Newborns whose mothers and/or the second-parents meet the inclusion criteria and have
provided their consent to take part in the study
Sampling method:
Non-Probability Sample
Criteria:
Inclusion Criteria:
- newborn between birth and 28 days of life
- consent of parent
Exclusion Criteria:
-
- 28 days
- Non consent of parent
Gender:
All
Minimum age:
N/A
Maximum age:
28 Days
Healthy volunteers:
Accepts Healthy Volunteers
Locations:
Facility:
Name:
CRMN, Hôpital La Citadelle
Address:
City:
Liege
Zip:
4000
Country:
Belgium
Status:
Recruiting
Contact:
Last name:
Laurent Servais, MD, PhD
Phone:
+3243216127
Email:
laurent.servais@paediatrics.ox.ac.uk
Contact backup:
Last name:
Tamara Dangouloff, PhD
Phone:
+33662438138
Email:
tdangouloff.screeningsma@gmail.com
Investigator:
Last name:
Francois Boemer, PhD
Email:
Sub-Investigator
Start date:
September 1, 2022
Completion date:
August 31, 2025
Lead sponsor:
Agency:
Centre Hospitalier Universitaire de Liege
Agency class:
Other
Collaborator:
Agency:
Centre Hospitalier Régional de la Citadelle
Agency class:
Other
Collaborator:
Agency:
University of Liege
Agency class:
Other
Collaborator:
Agency:
Sanofi
Agency class:
Industry
Collaborator:
Agency:
Orchard Therapeutics
Agency class:
Industry
Collaborator:
Agency:
Takeda
Agency class:
Industry
Collaborator:
Agency:
Zentech-Lacar Company
Agency class:
Other
Collaborator:
Agency:
Leon Fredericq Foundation
Agency class:
Other
Source:
Centre Hospitalier Universitaire de Liege
Record processing date:
ClinicalTrials.gov processed this data on November 12, 2024
Source: ClinicalTrials.gov page:
https://clinicaltrials.gov/ct2/show/NCT05687474
http://www.babydetect.com
