Baby Detect : Genomic Newborn Screening

Brief summary public domain (ClinicalTrials.gov)

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 public domain (ClinicalTrials.gov)

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.

Arm public domain (ClinicalTrials.gov)

Newborns with consent (): Newborns with parent's consent

Primary outcome public domain (ClinicalTrials.gov)

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

Primary outcome public domain (ClinicalTrials.gov)

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

Primary outcome public domain (ClinicalTrials.gov)

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. Time frame: through study completion, an average of 1 year.

Secondary outcome public domain (ClinicalTrials.gov)

Consequence of NBS on early treatment access - timing. Time frame: through study completion, an average of 1 year.

Secondary outcome public domain (ClinicalTrials.gov)

Consequence of NBS on early treatment access - frequency. Time frame: through study completion, an average of 1 year.

Secondary outcome public domain (ClinicalTrials.gov)

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.

Eligibility public domain (ClinicalTrials.gov)

Inclusion Criteria: * newborn between birth and 28 days of life * consent of parent Exclusion Criteria: * \+ 28 days * Non consent of parent

Enrollment public domain (ClinicalTrials.gov)

Enrollment: 6824 participants (actual).