Follow-up of Adult Phenylketonuria (PKU) Patients

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

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT01096758

Enrollment

Registered

2010-03-31

Start date

2010-03-31

Completion date

2013-09-30

Last updated

2013-09-10

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Nutritional Deficiencies, Phenylketonuria

Keywords

PKU, phenylketonuria, adult, patient, development, nutritional deficiencies, neurological outcome, psychological and neurological development, comparison with healthy adults, longitudinal development, quality of life

Brief summary

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.

Interventions

None listed

Study design

Observational model

CASE_CONTROL

Time perspective

CROSS_SECTIONAL

Eligibility

Sex/Gender

ALL

Age

25 Years to 70 Years

Healthy volunteers

Yes

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

Countries

Germany

Outcome results