Follow-up of Adult Phenylketonuria (PKU) Patients

This study has been completed.
Sponsor:
Information provided by (Responsible Party):
Koletzko - Office, Ludwig-Maximilians - University of Munich
ClinicalTrials.gov Identifier:
NCT01096758
First received: March 30, 2010
Last updated: September 9, 2013
Last verified: September 2013
  Purpose

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
Nutritional Deficiencies
Phenylketonuria

Study Type: Observational
Study Design: 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

Resource links provided by NLM:


Further study details as provided by Ludwig-Maximilians - University of Munich:

Biospecimen Retention:   Samples With DNA

blood cheek cells


Enrollment: 40
Study Start Date: March 2010
Study Completion Date: September 2013
Primary Completion Date: September 2012 (Final data collection date for primary outcome measure)
Groups/Cohorts
PKU patients
healthy controls

  Eligibility

Ages Eligible for Study:   25 Years to 70 Years
Genders Eligible for Study:   Both
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.

Criteria

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
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01096758

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

No publications provided

Responsible Party: Koletzko - Office, Prof., Ludwig-Maximilians - University of Munich
ClinicalTrials.gov Identifier: NCT01096758     History of Changes
Other Study ID Numbers: A-PKU2010
Study First Received: March 30, 2010
Last Updated: September 9, 2013
Health Authority: Germany: Ethics Commission

Keywords provided by Ludwig-Maximilians - University of Munich:
PKU
phenylketonuria
adult
patient
development
nutritional deficiencies
neurological outcome
psychological and neurological development
comparison with healthy adults
longitudinal development
quality of life

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

ClinicalTrials.gov processed this record on October 23, 2014