Follow-up of Adult Phenylketonuria (PKU) Patients

Adult patients with phenylketonuria (PKU) at the age around 40 years belong to the first patients generation with early treatment of the disease. PKU is caused by an inborn error of the amino acid metabolism and the so far best suitable therapy is an early and strict diet, which is low in phenylalanine.

Besides an early and continuously treatment in childhood, the nutritional and medical support during adolescence and adulthood have been suggested to influence the long-term physical health of adult PKU patients. As many adult PKU patients tend to neglect the necessarily strict diet, they do not get a balanced diet. For PKU patients some nutrients, which may be rare in an unbalanced diet, might help to improve health status, physical and neurological performance and quality of life.

Information about the longitudinal development of the patients status and the influence of the type of their medical care is not available. In this 5 year follow-up the investigators aim to study the quality of life and the medical, nutritional and psychological status of adult PKU patients, in whom corresponding information has already been collected previously.

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Key information

Conditions

Nutritional Deficiencies Amino Acid Metabolism, Inborn Errors Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Central Nervous System Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Malnutrition Metabolic Diseases Metabolism, Inborn Errors Nervous System Diseases Nutrition Disorders Nutritional and Metabolic Diseases Phenylketonuria Phenylketonurias

Age range

25 year–70 year

Sex eligibility

All sexes

Study type

Observational

Primary location

Dr. von Hauner Childrens Hospital

München, D-80337, Germany

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

assured clinical diagnose of PKU or proof of mutation in the phenylalanine hydroxylase gene (for PKU patients only)
both groups need to hand in a signed consent to participate in the study
controls: have to be omnivores and should not be on drugs, which influence the lipid metabolism, during the last 3 months
attendance of the last study trial

Exclusion criteria

not fulfill the inclusion criteria

Sponsors and collaborators

Lead sponsor

Ludwig-Maximilians - University of Munich

Other

Registry information

Official study title

5-year Follow-up of the Comparison of Life and Physical Health in Adult Patients With PKU and Healthy Age Matched Controls

Important dates

Study start: 2010
Primary completion: 2012
Study completion: 2013
First posted: Mar 31, 2010
Registry last updated: Sep 10, 2013

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Completed