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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Tracking Information | |||||||||
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First Submitted Date | December 28, 2022 | ||||||||
First Posted Date | January 18, 2023 | ||||||||
Last Update Posted Date | April 24, 2024 | ||||||||
Actual Study Start Date | September 1, 2022 | ||||||||
Estimated Primary Completion Date | August 31, 2025 (Final data collection date for primary outcome measure) | ||||||||
Current Primary Outcome Measures |
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Original Primary Outcome Measures |
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Change History | |||||||||
Current Secondary Outcome Measures |
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Original Secondary Outcome Measures |
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Current Other Pre-specified Outcome Measures | Not Provided | ||||||||
Original Other Pre-specified Outcome Measures | Not Provided | ||||||||
Descriptive Information | |||||||||
Brief Title | Baby Detect : Genomic Newborn Screening | ||||||||
Official Title | Universal Genomic Newborn Screening in the Wallonia-Brussels Federation: Baby Detect | ||||||||
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. |
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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 | ||||||||
Study Design | Observational Model: Cohort Time Perspective: Prospective |
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Target Follow-Up Duration | Not Provided | ||||||||
Biospecimen | Retention: Samples With DNA Description: 4 drops of dried blood on a blotter.
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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 | ||||||||
Condition |
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Intervention | Not Provided | ||||||||
Study Groups/Cohorts | Newborns with consent
Newborns with parent's consent
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Publications * | Not Provided | ||||||||
* Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline. |
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Recruitment Information | |||||||||
Recruitment Status | Recruiting | ||||||||
Estimated Enrollment |
6000 | ||||||||
Original Estimated Enrollment |
40000 | ||||||||
Estimated Study Completion Date | August 31, 2025 | ||||||||
Estimated Primary Completion Date | August 31, 2025 (Final data collection date for primary outcome measure) | ||||||||
Eligibility Criteria | Inclusion Criteria:
Exclusion Criteria:
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Sex/Gender |
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Ages | up to 28 Days (Child) | ||||||||
Accepts Healthy Volunteers | Yes | ||||||||
Contacts |
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Listed Location Countries | Belgium | ||||||||
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Administrative Information | |||||||||
NCT Number | NCT05687474 | ||||||||
Other Study ID Numbers | 2021-239 | ||||||||
Has Data Monitoring Committee | No | ||||||||
U.S. FDA-regulated Product |
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IPD Sharing Statement | Not Provided | ||||||||
Current Responsible Party | Laurent Servais, Centre Hospitalier Universitaire de Liege | ||||||||
Original Responsible Party | Laurent Servais, Centre Hospitalier Régional de la Citadelle, Professor | ||||||||
Current Study Sponsor | Centre Hospitalier Universitaire de Liege | ||||||||
Original Study Sponsor | Laurent Servais | ||||||||
Collaborators |
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Investigators |
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PRS Account | Centre Hospitalier Universitaire de Liege | ||||||||
Verification Date | April 2024 |