Not yet recruitingOBSERVATIONAL

Announcement of Rare Metabolic Diseases in Systematic Newborn Screening: the Phenylketonuria Experience.

This research project aims to understand the emotional and psychological impact when parents are told their newborn baby might have a rare, serious condition called Phenylketonuria (PKU). This condition is picked up through a routine baby screening test after birth. The study also explores the experiences of the medical team delivering this news. By looking at experiences from both sides, the researchers hope to improve how doctors share this information and provide better support to families. PKU is often detected by a phone call when families are already home, which can be a stressful and sometimes upsetting experience. The study wants to make sure this difficult news is delivered in the best possible way.

At a glance

Status

Not yet recruiting

Sponsor

Assistance Publique - Hôpitaux de Paris

Enrolment target

Start

01 Apr 2024

Estimated completion

01 Apr 2027

Phenylketonuria

What is this study about?

Imagine your baby is born, and a few days later, you get a phone call from a doctor you don't know, telling you that your baby might have a serious, lifelong condition. This is often the experience for parents whose babies are diagnosed with Phenylketonuria (PKU) through routine newborn screening. PKU is a rare genetic condition where the body can't properly process a certain substance found in food. If not treated early, it can lead to health problems, but with early treatment, children with PKU can usually live normal, healthy lives.

This study wants to learn more about the feelings and experiences of parents who receive this news. It also aims to understand the challenges faced by the doctors and nurses who have to deliver such sensitive information. Because the call often comes when families are home with their seemingly healthy baby, it can be very shocking and sometimes upsetting. The quick diagnosis and urgent need for treatment mean families are suddenly faced with a lot of new information and decisions.

The main goal of this research is to make this whole process better. By understanding what parents go through emotionally, and by hearing from the medical teams, the researchers hope to improve how they tell families about conditions like PKU. This could mean finding better ways to communicate, offering more support, and making sure families feel understood and cared for during a very difficult time.

Key takeaways

This study explores the emotional impact of a PKU diagnosis on parents and doctors.
It aims to improve how rare disease diagnoses are communicated to families.
Participation involves sharing personal experiences through interviews and questionnaires.
No changes to your child's medical treatment are involved in this study.
Your insights could help future families facing similar situations.
You can stop participating at any time.

Who may be eligible?

To join this study, you would need to be a parent or a doctor involved with a child who was screened for PKU during the study period. For parents, it's important that this is their first experience with PKU – meaning, the child diagnosed through newborn screening is either their first child or the first in the family to be diagnosed with PKU this way.

There are also some reasons why someone might not be able to join. For instance, if you don't speak French, as the study is conducted in France. If your child isn't your eldest or the first in your family to be screened for PKU, you wouldn't be able to take part. Also, if parents decide they don't want to participate, that's perfectly fine.

The researchers also need to make sure they can understand the information clearly. So, if a participant has certain health conditions that might make it hard to follow the study or for their interview responses to be understood, they might not be eligible. This is to ensure the study is fair and accurate for everyone involved.

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.

Are you a parent or doctor of a child recently screened for PKU?
Is this your family's first experience with a PKU diagnosis through newborn screening?
Are you comfortable communicating in French?
Are you over 18 years old?

Answer every question to see your result.

What does participation involve?

This study involves sharing your experiences through interviews. You might be asked to fill out questionnaires about how you're feeling and your thoughts on the situation. There will be different types of interviews – some more structured, others more like a conversation – all designed to understand your perspective. You won't be given any new medications or treatments as part of this study, as it focuses on understanding the emotional impact and communication process. The total duration of your participation would depend on how many interviews or questionnaires are involved, but it focuses on your experience around the time of diagnosis and in the following months.

Potential risks and benefits

Taking part in this study may offer the benefit of helping to improve how medical teams support families facing similar diagnoses in the future. Sharing your experiences might also be a way for you to process your own feelings. The main risk is that talking about a difficult time could bring up uncomfortable emotions; however, the researchers will be aware of this. Remember, you have the right to withdraw from the study at any time, for any reason, without it affecting your medical care.

Locations (1)

Hôpital Necker Enfants Malades
Verified postcode
Paris, France

Common questions

What is Phenylketonuria (PKU)?

PKU is a rare condition found in babies where their body can't properly break down a certain part of food. If not treated quickly, it can cause health problems, but early treatment usually helps children live normal, healthy lives.

Why is this study important?

This study is important because it wants to understand how parents and doctors feel when a baby is diagnosed with PKU through screening. The aim is to make the process of giving this news better and offer more support to families.

Will my baby get different treatment if I join the study?

No, joining this study won't change your baby's medical treatment. This research focuses on the experiences and feelings around the diagnosis, not on changing medical care.

What would I have to do if I take part?

If you take part, you'd be asked to share your experiences through interviews and possibly fill out some questionnaires. It's a chance to talk about your thoughts and feelings about the diagnosis process.

Can I change my mind after joining?

Yes, you can choose to stop participating in the study at any time, for any reason, without telling the researchers why. It won't affect your medical care.

How to find out more

Pascale DELONLAY, MD, PhD

pascale.delonlya@aphp.fr +33 1 44 49 48 52 Official trial record

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