Clinical Trials Logo

Clinical Trial 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.


Clinical Trial 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 Design


Related Conditions & MeSH terms

  • Acidosis
  • Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of
  • Adrenal Hyperplasia, Congenital
  • Adrenogenital Syndrome
  • Adrenoleukodystrophy
  • Alpha 1-Antitrypsin Deficiency
  • Alpha-Thalassemia
  • Alport Syndrome
  • Andersen Syndrome
  • Anemia
  • Anemia, Diamond-Blackfan
  • Anemia, Sickle Cell
  • Argininosuccinic Aciduria
  • Aromatic L-amino Acid Decarboxylase Deficiency
  • Ataxia With Vitamin E Deficiency
  • Biotinidase Deficiency
  • Brain Diseases
  • Carbamoyl-Phosphate Synthase I Deficiency Disease
  • Cardiomyopathies
  • Cardiomyopathy, Hypertrophic
  • Cardiomyopathy, Hypertrophic, Familial
  • Catecholaminergic Polymorphic Ventricular Tachycardia
  • Charcot-Marie-Tooth Disease
  • Chediak-Higashi Syndrome
  • Cholestasis
  • Cholestasis, Intrahepatic
  • Chronic Granulomatous Disease
  • Citrullinemia
  • Citrullinemia 1
  • Cobalamin Deficiency
  • Congenital Adrenal Hyperplasia
  • Congenital Hyperinsulinism
  • Congenital Hypothyroidism
  • Congenital Myasthenic Syndrome
  • Crigler-Najjar Syndrome
  • Cystic Fibrosis
  • Cystinosis
  • Diabetes Insipidus
  • Diabetes Insipidus, Nephrogenic
  • Diabetes Mellitus
  • Diabetes Mellitus, Type 2
  • Diamond Blackfan Anemia
  • Dopamine Beta Hydroxylase Deficiency
  • Familial Chylomicronemia
  • Familial Hemophagocytic Lymphocytosis
  • Familial Hypophosphatemic Rickets
  • Fanconi Anemia
  • Fanconi Syndrome
  • Galactosemias
  • Gaucher Disease
  • Gaucher Disease, Type 1
  • Glucose 6 Phosphate Dehydrogenase Deficiency
  • Glucosephosphate Dehydrogenase Deficiency
  • Glut1 Deficiency Syndrome
  • Glutaric Acidemia I
  • Glycogen Storage Disease
  • Glycogen Storage Disease Type II
  • Granulomatous Disease, Chronic
  • Griscelli Syndrome
  • Hemophilia A
  • Hemophilia B
  • Hereditary Retinoblastoma
  • Hereditary Sensory and Motor Neuropathy
  • Homocystinuria
  • Hyperammonemia
  • Hyperekplexia
  • Hyperlipoproteinemia Type I
  • Hyperoxaluria, Primary
  • Hyperplasia
  • Hypoglycemia
  • Hypophosphatasia
  • Hypophosphatemia
  • Hypothyroidism
  • Immunologic Deficiency Syndromes
  • Inflammatory Bowel Diseases
  • Lambert-Eaton Myasthenic Syndrome
  • Late-Infantile Neuronal Ceroid Lipofuscinosis
  • Leukodystrophy, Metachromatic
  • Long-chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency
  • Lymphocytosis
  • Lymphohistiocytosis, Hemophagocytic
  • Lysosomal Acid Lipase Deficiency
  • Maple Syrup Urine Disease
  • Maturity Onset Diabetes of the Young
  • Menkes Disease
  • Metachromatic Leukodystrophy
  • Mucopolysaccharidoses
  • Mucopolysaccharidosis I
  • Mucopolysaccharidosis II
  • Mucopolysaccharidosis IV
  • Mucopolysaccharidosis IV A
  • Mucopolysaccharidosis VI
  • Mucopolysaccharidosis VII
  • Myasthenic Syndromes, Congenital
  • Nephritis, Hereditary
  • Nephrosis
  • Nephrotic Syndrome
  • Nerve Compression Syndromes
  • Nesidioblastosis
  • Neuronal Ceroid-Lipofuscinoses
  • Neutropenia
  • Ornithine Transcarbamylase Deficiency
  • Phenylketonurias
  • Phosphoglucomutase 1 Deficiency
  • Pituitary Diseases
  • Polyneuropathies
  • Pompe Disease
  • Primary Hyperoxaluria
  • Progressive Familial Intrahepatic Cholestasis
  • Propionic Acidemia
  • Pseudohypoaldosteronism
  • Pseudohypoaldosteronism Type 1
  • Retinoblastoma
  • S-Adenosylhomocysteine Hydrolase Deficiency
  • Severe Combined Immunodeficiency
  • Severe Congenital Neutropenia
  • Shwachman-Diamond Syndrome
  • Sickle Cell Disease
  • Smith-Lemli-Opitz Syndrome
  • Stiff-Person Syndrome
  • Syndrome
  • Tachycardia
  • Tachycardia, Ventricular
  • Thalassemia
  • Tooth Diseases
  • Tyrosinemia, Type I
  • Tyrosinemias
  • Vitamin B 12 Deficiency
  • Vitamin E Deficiency
  • Wilson Disease
  • Wiskott-Aldrich Syndrome
  • Wolman Disease

NCT number NCT05687474
Study type Observational
Source Centre Hospitalier Universitaire de Liege
Contact Tamara Dangouloff
Phone +33662438138
Email tamara.dangouloff@uliege.be
Status Recruiting
Phase
Start date September 1, 2022
Completion date August 31, 2025

See also
  Status Clinical Trial Phase
Completed NCT04696198 - Thoracic Mobility in Cystic Fibrosis Care N/A
Completed NCT00803205 - Study of Ataluren (PTC124™) in Cystic Fibrosis Phase 3
Terminated NCT04921332 - Bright Light Therapy for Depression Symptoms in Adults With Cystic Fibrosis (CF) and COPD N/A
Completed NCT03601637 - Safety and Pharmacokinetic Study of Lumacaftor/Ivacaftor in Participants 1 to Less Than 2 Years of Age With Cystic Fibrosis, Homozygous for F508del Phase 3
Terminated NCT02769637 - Effect of Acid Blockade on Microbiota and Inflammation in Cystic Fibrosis (CF)
Recruiting NCT06012084 - The Development and Evaluation of iCF-PWR for Healthy Siblings of Individuals With Cystic Fibrosis N/A
Recruiting NCT06030206 - Lung Transplant READY CF 2: A Multi-site RCT N/A
Recruiting NCT06032273 - Lung Transplant READY CF 2: CARING CF Ancillary RCT N/A
Recruiting NCT05392855 - Symptom Based Performance of Airway Clearance After Starting Highly Effective Modulators for Cystic Fibrosis (SPACE-CF) N/A
Recruiting NCT06088485 - The Effect of Bone Mineral Density in Patients With Adult Cystic Fibrosis
Recruiting NCT04039087 - Sildenafil Exercise: Role of PDE5 Inhibition Phase 2/Phase 3
Recruiting NCT04056702 - Impact of Triple Combination CFTR Therapy on Sinus Disease.
Completed NCT04058548 - Clinical Utility of the 1-minute Sit to Stand Test as a Measure of Submaximal Exercise Tolerance in Patients With Cystic Fibrosis During Acute Pulmonary Exacerbation N/A
Completed NCT04038710 - Clinical Outcomes of Triple Combination Therapy in Severe Cystic Fibrosis Disease.
Completed NCT03637504 - Feasibility of a Mobile Medication Plan Application in CF Patient Care N/A
Recruiting NCT03506061 - Trikafta in Cystic Fibrosis Patients Phase 2
Completed NCT03566550 - Gut Imaging for Function & Transit in Cystic Fibrosis Study 1
Recruiting NCT04828382 - Prospective Study of Pregnancy in Women With Cystic Fibrosis
Completed NCT04568980 - Assessment of Contraceptive Safety and Effectiveness in Cystic Fibrosis
Recruiting NCT04010253 - Impact of Bronchial Drainage Technique by the Medical Device Simeox® on Respiratory Function and Symptoms in Adult Patients With Cystic Fibrosis N/A