Clinical Trial Details
— Status: Recruiting
Administrative data
| NCT number |
NCT05687474 |
| Other study ID # |
2021-239 |
| Secondary ID |
|
| Status |
Recruiting |
| Phase |
|
| First received |
|
| Last updated |
|
| Start date |
September 1, 2022 |
| Est. completion date |
August 31, 2025 |
Study information
| Verified date |
April 2024 |
| Source |
Centre Hospitalier Universitaire de Liege |
| Contact |
Tamara Dangouloff |
| Phone |
+33662438138 |
| Email |
tamara.dangouloff[@]uliege.be |
| Is FDA regulated |
No |
| Health authority |
|
| Study type |
Observational
|
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.
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.
