PKU carriers: How high phenylalanine affects the brain
Part of Brain & nervous system, Genetic & congenital clinical trials.
This study looks at how carrying one copy of the PKU gene might affect thinking and brain health in adults. It will help researchers understand if mild changes in a substance called phenylalanine can impact memory, focus, and brain scans.
Summary written for real people, not researchers, by Clin2.
Who can take part
- You are between 18 and 60 years old.
- You are a parent, sibling, or confirmed carrier of the PKU gene (meaning you have one copy but not the disease).
- OR you are in the non-carrier group and have no PKU in your family.
- Your body mass index (BMI) is 30 or less.
- You do not smoke or use nicotine products.
- You do not have a metal implant, pacemaker, or other MRI safety concern, and you are not pregnant or planning pregnancy.
- You do not have a major brain condition like multiple sclerosis, severe head injury, or Parkinson's disease.
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 the brain ages in adults with PKU. It uses an MRI scan to compare brain changes between people with PKU and healthy volunteers.
This study tests whether a specific mix of large neutral amino acids (LNAAs) can help adults with classical PKU by lowering phenylalanine levels in the brain. It includes an MRI and PET scan to see how the treatment affects brain activity.
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.
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 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 how different meals eaten before exercise affect amino acid levels and metabolic health in adults with classic phenylketonuria (PKU)—a genetic condition affecting how your body processes protein. The research involves eating test meals, exercising, and providing blood samples to help understand the best nutritional approach for PKU patients.
Hear when a new Carrier of Phenylketonuria trial opens
We’ll email you when one opens — at most once a week, no account needed, unsubscribe anytime.