Follow-up of Adult Phenylketonuria (PKU) Patients

Phenylketonuria Clinical Trial

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT01096758
• Other study ID #: A-PKU2010
• Status: Completed
• Phase: N/A
• First received: March 30, 2010
• Last updated: September 9, 2013
• Start date: March 2010
• Est. completion date: September 2013

Study information

• Verified date: September 2013
• Source: Ludwig-Maximilians - University of Munich
• Contact: n/a
• Is FDA regulated: No
• Health authority: Germany: Ethics Commission
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 40
• Est. completion date: September 2013
• Est. primary completion date: September 2012
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: Both
• Age group: 25 Years to 70 Years

Eligibility

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

Study Design

Observational Model: Case Control, Time Perspective: Cross-Sectional

Related Conditions & MeSH terms

• Malnutrition
• Nutritional Deficiencies
• Phenylketonuria
• Phenylketonurias

Locations

Country	Name	City	State
Germany	Dr. von Hauner Childrens Hospital	Muenchen

Sponsors (1)

Lead Sponsor	Collaborator
Ludwig-Maximilians - University of Munich

Country where clinical trial is conducted

Germany,