How is PKU announced to families after newborn screening?
Part of Brain & nervous system, Genetic & congenital, Hormones & metabolism, Mental health clinical trials.
This study talks to parents or doctors about how they first learned their child had PKU through newborn screening. It aims to improve how these rare metabolic diseases are communicated to families.
Summary written for real people, not researchers, by Clin2.
Who can take part
- You are the parent or doctor of a child diagnosed with PKU through newborn screening.
- Your child was born during the study period.
- This is the first time a child in your family has been diagnosed with PKU after newborn screening.
- The child diagnosed must be the oldest child or the first sibling found to have PKU through newborn screening.
- You speak French fluently.
- You are not experiencing serious mental health issues and have not lost a parent at childbirth.
Quick eligibility check
Answer a few plain-language questions, based on this study's own requirements, to get a preliminary sense of fit.
Similar studies
Other trials that look related to this one.
This study looks at how a phenylalanine-restricted diet or certain PKU medicines affect gut health in children with PKU. It also includes healthy siblings or household members as a comparison group.
This study looks at eating habits and disorders in people with phenylketonuria (PKU) who are treated at a specific hospital in Nancy, France. Participating involves sharing information, which may help doctors better understand eating challenges in PKU.
This trial tests an investigational drug (AG-181) for people with PKU who have a specific genetic change (R408W mutation). It aims to check if the drug is safe and how it works in your body.
This study looks at how educational, social support, and nutrition help affect pregnancy outcomes and quality of life in women with PKU. It may help you better manage PKU-related needs before and during pregnancy.
This study looks at how adults with phenylketonuria (PKU) or hyperphenylalaninemia (HMP) are doing socially and emotionally. They will ask you and a relative who lives with you to answer questionnaires about daily life.
This study looks at whether following specific care guidelines for phenylketonuria (PKU) leads to better metabolic control (blood phenylalanine levels) and better patient well-being. You may be asked to complete questionnaires and follow the study plan while receiving the usual PKU treatment your clinic recommends.
Hear when a new Phenylketonuria trial opens
We’ll email you when one opens — at most once a week, no account needed, unsubscribe anytime.