Condition: Newborn Screening Programmes for Rare Diseases · Sponsor: Centre Hospitalier Universitaire Dijon
Newborn Screening (NBS) based on genome sequencing (GS) is currently the subject of particular attention at both European and international levels. Over the past three years, several publications have discussed the opportunities and challenges of using GS for NBS. To date, only two Chinese programs have published their results, the first on a series of 29,601 healthy newborns and the second on a series of 10,334 healthy newborns and 668 high-risk infants. Globally, more than twenty pilot projects are underway, although none has been initiated within the French context thus far. Across the different pilot projects, various study designs are used. Most have opted for a targeted GS-based analysis to screen for pediatric-onset diseases. Some projects focus solely on diseases for which effective drugs or interventions exist to prevent or reduce symptoms. In contrast, others offer parents the option to screen their newborns for diseases without current treatment options, but for which a treatment is underdevelopment, or with interest in early management, a choice exercised by most parents. Indeed, early diagnosis of these diseases can help to introduce treatments or interventions when they become available, to participate in research trials on new treatments and to receive early management and genetic counseling. In France, the national NBS program has long been recognized worldwide for its organizational quality and comprehensiveness, although, until recently, it has one of the l…
This description comes directly from the study's public registry record.
Laurence OLIVIER-FAIVRE · 0380295313 · laurence.faivre@chu-dijon.fr
Always discuss trial participation with your own doctor first.
| CHU d'Angers | Angers, France | Not Yet Recruiting |
| CHU Besançon | Besançon, France | Not Yet Recruiting |
| CHU Dijon Bourgogne | Dijon, France | Recruiting |
| CHU Hôtel Dieu | Nantes, France | Not Yet Recruiting |
| CHU Rennes - Hôpital Sud | Rennes, France | Not Yet Recruiting |
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Source record: clinicaltrials.gov/study/NCT06875089