Follow-up of Adult Phenylketonuria (PKU) Patients
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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 |
blood cheek cells
| Estimated Enrollment: | 66 |
| Study Start Date: | March 2010 |
| Estimated Study Completion Date: | December 2012 |
| Primary Completion Date: | September 2010 (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 |
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
Contacts and Locations| Germany | |
| Dr. von Hauner Childrens Hospital | |
| Muenchen, Germany, D-80337 | |
| 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: | March 28, 2012 |
| 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:
|
Phenylketonurias Malnutrition 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 |
ClinicalTrials.gov processed this record on May 19, 2013