RecruitingNAINTERVENTIONAL

Genetic Newborn Screening for Rare Diseases Within the Screen4Care Project

This study, part of the wider Screen4Care project, is looking at whether genetic screening for rare diseases in newborn babies can help doctors find these conditions earlier. The main goal is to shorten the time it takes to get a diagnosis and start treatment for these rare diseases. We will offer a special genetic test to families expecting a baby. If a baby later shows signs of a genetic disease, we might offer a more detailed genetic test called whole genome sequencing. We will also ask families to fill out questionnaires to understand how this screening affects them.

At a glance

Status

Recruiting

Phase

Sponsor

University Hospital Freiburg

Enrolment target

20,000

Start

03 Dec 2024

Estimated completion

01 Dec 2026

Newborn Screening

What is this study about?

This study is called "Genetic Newborn Screening for Rare Diseases Within the Screen4Care Project." It's all about whether we can find rare genetic diseases in babies right after they are born, rather than waiting for them to show symptoms later. By finding these diseases sooner, doctors hope to start treatments earlier, which could make a big difference to a baby's health and future.

At the moment, babies born in the UK are already checked for some conditions shortly after birth with a heel prick test. This project is exploring if we can add genetic testing to that process for a wider range of rare but treatable conditions. The idea is to make sure babies who need help get it as quickly as possible. We are also looking at how this early testing impacts families, to understand if it helps them too.

If a baby is part of this initial screening and later shows signs that they might have a genetic condition, a more advanced test called "whole genome sequencing" might be offered. This test looks at all of a baby's genetic information in much more detail. This extra step helps pinpoint very specific genetic conditions that might be harder to find otherwise. The study also collects information from families through questionnaires to see how their journey is impacted by this early screening.

Key takeaways

Aims for earlier diagnosis and treatment for rare genetic diseases in babies.
Uses genetic testing for newborns and detailed sequencing if symptoms appear.
Participation includes genetic tests and questionnaires for parents.
The study lasts for up to two years.
Involves babies born in specific hospitals/birth centres.
Participation is completely voluntary.

Who may be eligible?

To join the first part of this study, your baby must be born in one of the specific hospitals or birthing centres taking part. Both parents or legal guardians need to agree to their baby having the genetic newborn screening.

For the second, more detailed genetic test (whole genome sequencing), your baby would first need to have taken part in the initial newborn screening. Additionally, your baby would need to show signs of a possible genetic problem within their first two years of life. Again, both parents or legal guardians must agree for their baby to have this more detailed test.

If either parent or legal guardian doesn't give their permission, then the baby cannot take part in the study.

Could this study suit you?

Answer these quick questions to see if you may be eligible. This is a guide only — the research team makes the final call.

Is my baby being born in a hospital involved in this study?
Am I, as a parent or legal guardian, happy to sign a consent form for genetic screening?
Am I willing to fill in questionnaires about my experience?
If my baby shows signs of a genetic condition later, would I consider a more detailed genetic test?

Answer every question to see your result.

What does participation involve?

If you decide to take part, your newborn baby will have a genetic test. This is usually done by taking a small sample, often from a heel prick, similar to current newborn screening tests. You and your baby won't need to make any extra visits for this initial test beyond your usual post-birth care.

After this, the study will mainly involve you filling out some questionnaires. These will ask about your experiences and how the genetic screening has affected your family over time. This helps researchers understand the benefits and challenges of this kind of early testing.

If your baby develops symptoms that suggest a genetic disease within their first two years, and you previously agreed, they might be offered a more detailed genetic test called whole genome sequencing. This would involve another sample being taken. The total duration of the follow-up with questionnaires would be over a period of time after your baby is born, but specific timings would be explained fully by the study team.

Potential risks and benefits

Potential benefits of participating include the chance for an earlier diagnosis of a rare genetic disease for your baby, which could lead to quicker treatment and potentially better health outcomes. This also contributes to medical research that could help many other families in the future. The risks are generally low, as the initial genetic test is similar to routine newborn screening. However, there can be emotional stress for parents when receiving genetic information, whether clear or uncertain results. You have the right to withdraw your consent and your baby from the study at any time, for any reason, without it affecting your and your baby's medical care.

Locations (8)

Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Hôpital d'Enfants
Verified postcode
Dijon, France· Completed
Charité University Medicine Berlin
Verified postcode
Berlin, Germany· Recruiting
Clinic for Neuropediatrics and Muscular Diseases, Freiburg University Medical Center
Verified postcode
Freiburg im Breisgau, Germany· Recruiting
University Medical Center Göttingen, Clinic for Neurology
Verified postcode
Göttingen, Germany· Recruiting
Ospedale Pediatrivo Bambino Gesu IRCCS
Verified postcode
Rome, Italy· Recruiting
Unit Medical Genetics, Azienda Ospedaliero-Universitaria Sant'Anna
Verified postcode
Ferrara, Italy· Completed
Azienda Ospedaliero Universitaria di Modena, Neonatology Unit
Verified postcode
Modena, Italy· Recruiting
San Pietro Fatebenefratelli Hospital
Verified postcode
Roma, Italy· Recruiting

Common questions

What is 'newborn screening'?

Newborn screening is when babies are tested shortly after birth for certain health conditions, usually with a small blood sample (heel prick), to find problems early.

What is 'whole genome sequencing'?

This is a detailed genetic test that looks at all of a person's DNA to find very specific genetic changes that might cause health problems.

Will my baby get special treatment by joining?

The study aims to help babies get a diagnosis and treatment sooner if they have a rare genetic condition. However, participation does not guarantee specific treatment options not available outside the study.

Do we have to take part?

No, taking part is completely your choice. Your decision will not affect the medical care your baby receives.

How long will the study last for my family?

The study collects information about your baby and family for up to two years after your baby is born, mainly through questionnaires.

How to find out more

Alessandra Ferlini, Professor

screen4care@unife.it +39 0532 974439 Official trial record

Always speak to your GP or specialist before deciding to take part in a study.