Follow-up of Adult Phenylketonuria (PKU) Patients

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT01096758
Recruitment Status : Completed
First Posted : March 31, 2010
Last Update Posted : September 10, 2013
Information provided by (Responsible Party):
Koletzko - Office, Ludwig-Maximilians - University of Munich

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.

Condition or disease
Nutritional Deficiencies Phenylketonuria

Study Type : Observational
Actual Enrollment : 40 participants
Observational Model: Case Control
Time Perspective: Cross-Sectional
Official Title: 5-year Follow-up of the Comparison of Life and Physical Health in Adult Patients With PKU and Healthy Age Matched Controls
Study Start Date : March 2010
Actual Primary Completion Date : September 2012
Actual Study Completion Date : September 2013

PKU patients
healthy controls

Biospecimen Retention:   Samples With DNA
blood cheek cells

Information from the National Library of Medicine

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Ages Eligible for Study:   25 Years to 70 Years   (Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population

Adult PKU patients who are or have been attending the Departements of Metabolic Diseases of the Klinikum der Universität München will be recruited for this study, if they had been participating already in the last study trial comparing adult PKU patients with healthy controls.

It will be attempted to include the same control persons as in the last study trial.


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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT01096758

Dr. von Hauner Childrens Hospital
Muenchen, Germany, D-80337
Sponsors and Collaborators
Ludwig-Maximilians - University of Munich
Principal Investigator: Berthold Koletzko, Prof. Ludwig-Maximilians - University of Munich

Responsible Party: Koletzko - Office, Prof., Ludwig-Maximilians - University of Munich Identifier: NCT01096758     History of Changes
Other Study ID Numbers: A-PKU2010
First Posted: March 31, 2010    Key Record Dates
Last Update Posted: September 10, 2013
Last Verified: September 2013

Keywords provided by Koletzko - Office, Ludwig-Maximilians - University of Munich:
nutritional deficiencies
neurological outcome
psychological and neurological development
comparison with healthy adults
longitudinal development
quality of life

Additional relevant MeSH terms:
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Amino Acid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Metabolic Diseases
Nutrition Disorders