Investigation of the effects of nutrition and therapy on bone health in patients with elevated phenylalanine levels / phenylketonuria (PKU)

• Conditions: E70.0; E70.1; Classical phenylketonuria; Other hyperphenylalaninaemias

• Registration Number: DRKS00023073
• Lead Sponsor: niversitätsklinik für Kinder- und Jugendmedizin, St. Josef-Hospital, Ruhr-Universität Bochum

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Study Start: 2020-11-27
• Last Update Posted: 19 August 2024

Recruitment & Eligibility

• Status: Complete
• Sex: All
• Target Recruitment: 37

Inclusion Criteria

= 18 years and written-informed consent

Exclusion Criteria

Presence of a metabolic disease other than PKU,
missing declaration of consent,
patients who are not able to give consent,
insufficient knowledge of the German language,
Pregnancy and lactation,
Pre-terminal or terminal renal failure

Study & Design

• Study Type: observational
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
The primary hypothesis of the study is that bone health in PKU patients, as measured by significantly different levels of higher BPH (Bone pathology harbinger)-Score, is worse than that of control subjects of the same age and sex and shows further deterioration with increasing Phe levels over the past 5 years.

Secondary Outcome Measures

Name	Time	Method
The secondary hypothesis is that differences between control subjects and PKU patients can also be found in cognitive performance, analyzed with a computer-based cognition test