Congenital Adrenal HyperplasiaBabyDetectNCT05687474
Baby Detect : Genomic Newborn Screening
An observational study of Congenital Adrenal Hyperplasia and Familial Hyperinsulinemic Hypoglycemia 1, run by Centre Hospitalier Universitaire de Liege at 1 site in Belgium.
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… Read more about this study
- Who is it for?
- Ages Up to 28 daysHealthy volunteers can take part
- Conditions the study is for
- Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1, Phosphoglucomutase 1 Deficiency
- How many people
- 6,824 participants
- Where
- 1 siteBelgium
- Study dates
- 1 Sep 2022to 2 Jun 2025
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Up to 28 days
- All sexes
- Healthy volunteers accepted
- Child
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
Who may be able to join
- newborn between birth and 28 days of life
- consent of parent
Who cannot join
- + 28 days
- Non consent of parent
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Universal Genomic Newborn Screening in the Wallonia-Brussels Federation: Baby Detect
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.
Read the 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.
- Conditions
- Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1, Phosphoglucomutase 1 Deficiency, Maturity Onset Diabetes of the Young, Cystic Fibrosis, Hypophosphatasia, Infantile
- Medical subject headings
- Adrenal Hyperplasia, Congenital, Congenital Hyperinsulinism, Glycogen Storage Disease XIV, Diabetes Mellitus, Type 2, Cystic Fibrosis, Hypophosphatasia, Infantile, Congenital Hypothyroidism, Combined Pituitary Hormone Deficiency
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Newborns with consent | Newborns with parent's consent |
What is being measured
The primary outcome is the main question the study is designed to answer.
Acceptability
The percentage of parents accepting the proposed screening in comparison with the number of mothers approached for consent
Measured: through study completion, an average of 1 year
Feasibility - timing
The Turn-around time for the different mutations that are screened
Measured: through study completion, an average of 1 year
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.
Measured: through study completion, an average of 1 year
Secondary outcomes (3)
Consequence of NBS on early treatment access - timing
The time passed between the birth of diagnostic-positive newborns to the initiation of their treatment
Measured: through study completion, an average of 1 year
Consequence of NBS on early treatment access - frequency
The number of patients offered early treatment
Measured: through study completion, an average of 1 year
To improve the detection technique for disease related mutations that are not detected in classical screening by improving the classification of unspecified variants.
The number of new mutations implemented yearly in the NBS.
Measured: through study completion, an average of 1 year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted18 Jan 2023
- Study start1 Sep 2022
- Primary completion2 Jun 2025
- Study completion2 Jun 2025
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (2)Papers the sponsor has linked to this study.
- Other trials for Congenital Adrenal HyperplasiaStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 6,824 participants (actual)
Sponsor and investigators
- Lead sponsor
- Centre Hospitalier Universitaire de Liege
- Sponsor type
- University, hospital or other
- Collaborators
- Centre Hospitalier Régional de la Citadelle, University of Liege, Sanofi, Orchard Therapeutics, Takeda, Zentech-Lacar Company, Leon Fredericq Foundation
- Responsible party
- Principal investigator, Laurent Servais, Centre Hospitalier Universitaire de Liege
- Investigators
- Laurent Servais, Principal investigator, Centre Hospitalier Universitaire de Liege
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05687474
- Sponsor's protocol ID
- Baby Detect
- Acronym
- BabyDetect
- Status last verified
- Aug 2025
- First submitted
- 28 Dec 2022
- Last updated
- 12 Aug 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Publications
Boemer F, Hovhannesyan K, Piazzon F, Minner F, Mni M, Jacquemin V, Mashhadizadeh D, Benmhammed N, Bours V, Jacquinet A, Harvengt J, Bulk S, Dideberg V, Helou L, Palmeira L, Dangouloff T; BabyDetect Expert Panel; Servais L. Population-based, first-tier genomic newborn screening in the maternity ward. Nat Med. 2025 Apr;31(4):1339-1350. doi: 10.1038/s41591-024-03465-x. Epub 2025 Jan 28.
PubMed 39875687Dangouloff T, Hovhannesyan K, Mashhadizadeh D, Minner F, Mni M, Helou L, Piazzon F, Palmeira L, Boemer F, Servais L. Feasibility and Acceptability of a Newborn Screening Program Using Targeted Next-Generation Sequencing in One Maternity Hospital in Southern Belgium. Children (Basel). 2024 Jul 30;11(8):926. doi: 10.3390/children11080926.
PubMed 39201861
Study at a glance
From the registry record, last updated by the sponsor on 12 Aug 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Universal Genomic Newborn Screening in the Wallonia-Brussels Federation: Baby Detect
- ClinicalTrials.gov ID
- NCT05687474
- Acronym / sponsor ID
- BabyDetect / Baby Detect
- Conditions
- Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1, Phosphoglucomutase 1 Deficiency, Maturity Onset Diabetes of the Young, Cystic Fibrosis, Hypophosphatasia, Infantile
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 6,824 participants (actual)
- Lead sponsor
- Centre Hospitalier Universitaire de LiegeUniversity, hospital or other
- Collaborators
- Centre Hospitalier Régional de la Citadelle, University of Liege, Sanofi, Orchard Therapeutics, Takeda, Zentech-Lacar Company, Leon Fredericq Foundation
- Study start
- 1 Sep 2022 (actual)
- Primary completion
- 2 Jun 2025 (actual)
- Study completion
- 2 Jun 2025 (actual)
- First posted
- 18 Jan 2023 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Newborns with consent | – | –Newborns with parent's consent |
Who may qualify
- Ages
- Up to 28 days
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child
- 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
Key inclusion criteria (2 listed)
- newborn between birth and 28 days of life
- consent of parent
Key exclusion criteria (2 listed)
- + 28 days
- Non consent of parent
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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.
3 secondary outcomes
Consequence of NBS on early treatment access - timing
Time frame: through study completion, an average of 1 year
Consequence of NBS on early treatment access - frequency
Time frame: through study completion, an average of 1 year
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
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 12 Aug 2025.
- Background: PubMed 39875687Boemer F, Hovhannesyan K, Piazzon F, Minner F, Mni M, Jacquemin V, Mashhadizadeh D, Benmhammed N, Bours V, Jacquinet A, Harvengt J, Bulk S, Dideberg V, Helou L, Palmeira L, Dangouloff T; BabyDetect Expert Panel; Servais L. Population-based, first-tier genomic newborn screening in the maternity ward. Nat Med. 2025 Apr;31(4):1339-1350. doi: 10.1038/s41591-024-03465-x. Epub 2025 Jan 28.
- Background: PubMed 39201861Dangouloff T, Hovhannesyan K, Mashhadizadeh D, Minner F, Mni M, Helou L, Piazzon F, Palmeira L, Boemer F, Servais L. Feasibility and Acceptability of a Newborn Screening Program Using Targeted Next-Generation Sequencing in One Maternity Hospital in Southern Belgium. Children (Basel). 2024 Jul 30;11(8):926. doi: 10.3390/children11080926.
- Related InfoLink provided by the sponsor.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Laurent Servais principal investigator
Centre Hospitalier Universitaire de Liege
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Congenital Adrenal Hyperplasia and Familial Hyperinsulinemic Hypoglycemia 1, run by Centre Hospitalier Universitaire de Liege at 1 site in Belgium.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 12 Aug 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Belgium. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Acceptability (time frame: through study completion, an average of 1 year). The study lists 3 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT05687474, which also lists 2 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 12 Aug 2025.