Follow-up of Adult Phenylketonuria (PKU) Patients

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

40 participants

Study Classification

OBSERVATIONAL

Study Start Date

2010-03-31

Study Completion Date

2013-09-30

Brief Summary

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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.

Detailed Description

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Conditions

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Nutritional Deficiencies Phenylketonuria

Keywords

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

Study Design

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Observational Model Type

CASE_CONTROL

Study Time Perspective

CROSS_SECTIONAL

Study Groups

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PKU patients

No interventions assigned to this group

healthy controls

No interventions assigned to this group

Eligibility Criteria

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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

Minimum Eligible Age

25 Years

Maximum Eligible Age

70 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Responsible Party

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Koletzko - Office

Prof.

Responsibility Role PRINCIPAL_INVESTIGATOR

Principal Investigators

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Berthold Koletzko, Prof.

Role: PRINCIPAL_INVESTIGATOR

Ludwig-Maximilians - University of Munich

Locations

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Dr. von Hauner Childrens Hospital

München, , Germany

Site Status

Countries

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Germany

Other Identifiers

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A-PKU2010

Identifier Type: -

Identifier Source: org_study_id