RecruitingOBSERVATIONAL

A Pilot Study for Systematic Neonatal Screening for Lysosomal Storage Diseases Using Tandem Mass Spectrometry

This study is happening in the Normandie region of France and is looking to include all newborns over the next three years, aiming for about 100,000 babies. We are trying to find out how common two rare conditions called MPS1 and Pompe disease are in newborns. These conditions are types of 'lysosomal storage diseases' which can affect many parts of the body. We will use a special blood test on a tiny sample of dried blood, similar to the heel prick test babies already have. Parents will need to give their permission for their baby to take part. The information we gather will help us understand these conditions better and potentially improve future screening for babies.

At a glance

Status

Recruiting

Sponsor

University Hospital, Rouen

Enrolment target

100,000

Start

08 Mar 2021

Estimated completion

08 Dec 2026

Neonatal Screening Lysosomal Storage Diseases

What is this study about?

This research study is focused on understanding two rare health conditions, called MPS1 and Pompe disease, in newborn babies. These conditions are part of a group known as 'lysosomal storage diseases'. They happen when certain important substances build up in the body's cells, which can cause health problems over time. By testing babies at birth, we hope to learn how often these conditions occur in the Normandie region of France. This information is very important because it helps doctors and health services understand if these conditions should be checked for routinely in all newborns, similar to how babies are already screened for other conditions like PKU.

The study involves taking a small blood sample from newborns, usually from their heel, which is a common procedure for all babies shortly after birth. We use a special method called 'tandem mass spectrometry' to look for signs of MPS1 and Pompe disease in these samples. This is similar to how other conditions are already tested in newborns. We are aiming to include around 100,000 babies over the next few years. The more babies we include, the clearer picture we will get of how common these conditions are.

Ultimately, the goal of this research is to see if finding these conditions early could benefit babies. For example, if we know a baby has one of these conditions soon after birth, doctors might be able to start treatments earlier or provide closer monitoring, which could improve the child's long-term health. This study is an important step in exploring new ways to keep babies healthy from the very beginning of their lives.

Key takeaways

A research study in the Normandie region of France.
Aims to understand how common MPS1 and Pompe disease are in newborns.
Uses a small blood sample from routine newborn screening.
No extra blood tests or appointments for your baby.
Parents must give clear permission for their baby to take part.
Participation is entirely voluntary.

Who may be eligible?

To be part of this study, your baby needs to have been born in a maternity hospital within the Normandie region of France. They also need to be taking part in the regular national newborn screening program, which is a routine health check for all babies in France.

Most importantly, one or both parents must receive and understand the information about the study. If you agree, you will then need to sign a consent form, giving permission for your baby to participate.

There are no particular reasons why a baby cannot join this study, as long as they meet the points above. Taking part is completely voluntary, just like the national newborn screening program itself. If you decide not to join, it will not affect your baby's standard care.

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.

Was your baby born in a maternity hospital in the Normandie region of France?
Is your baby taking part in the standard national newborn screening program?
Have you received and understood the study information?
Are you willing to sign a consent form for your baby to participate?
Is your baby between 1 and 4 days old?

Answer every question to see your result.

What does participation involve?

If you choose for your baby to take part, it's quite simple. Your baby will have a small blood sample taken, usually by a heel prick, when they are between 1 and 4 days old. This sample is taken at the same time as the routine blood spot screening test that all newborns in France already have. There are no extra visits or appointments needed for this study. The researchers will simply use a part of that routine blood sample to check for MPS1 and Pompe disease. The study will continue until enough babies have been included, over approximately three years. Your baby's participation will only involve this single blood sample collection.

Potential risks and benefits

The main benefit of this study is that it helps us understand more about how common these rare conditions are in newborns. If the study shows that early screening is helpful, it could potentially lead to better and earlier care for babies with these conditions in the future. The risks for your baby are minimal, as the blood sample is taken no differently from the standard heel prick test that all babies already receive. There are no additional procedures or medications involved. You have the right to withdraw your consent for your baby to participate at any time, without giving a reason, and this will not affect your baby's medical care.

Locations (2)

Caen University Hospital
Verified postcode
Caen, France· Recruiting
Rouen University Hospital
Verified postcode
Rouen, France· Recruiting

Common questions

What is newborn screening?

Newborn screening is a routine check for babies soon after birth to find out if they have certain serious but rare health conditions quickly, so treatment can start early.

What are Lysosomal Storage Diseases?

These are a group of rare conditions where the body can't properly break down certain substances, leading to a build-up in cells that can cause health problems.

Will my baby need extra blood tests for this study?

No, the study will use a small part of the blood sample already taken during the routine heel prick test, so your baby won't need any extra blood tests.

What happens if my baby is found to have one of these conditions?

This study is primarily for research. If any unexpected findings emerge that are medically important for your baby's health, the study team would follow procedures to inform you and your doctor.

Is taking part in this study compulsory?

No, taking part in this study is completely voluntary. It's your choice, and it won't affect your baby's standard medical care if you decide not to participate.

How to find out more

Soumeya BEKRI, Pr

soumeya.bekri@chu-rouen.fr +3323288 Official trial record

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