Observational Study of Endothelial Dysfunction in Phenylketonuria

Observational, Investigator Initiated, Monocentric Study of the Endothelial Dysfunction in Adolescent and Adult Patients With Phenylketonuria Due to Phenylalanine Hydroxylase Deficiency

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT02176603

Enrollment

Registered

2014-06-27

Start date

2014-05-31

Completion date

2017-01-01

Last updated

2017-02-23

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Endothelial Dysfunction, Phenylketonuria

Keywords

phenylketonuria, endothelial dysfunction, CKD

Brief summary

The purpose of this study is to determine whether adolescent and adult patients with phenylketonuria who are on long-term phenylalanine-restricted diet suffer from endothelial dysfunction.

Detailed description

The aim of the study is the examination of endothelial dysfunction and oxidative stress markers in adolescent and adult patients with phenylketonuria (PKU), in correlation to phenylalanine values und phenylalanine-restricted diet. 25-50 patients with PKU aged ≥16 years of age and a control group of 25 age- and sex-matched healthy volunteers will be included in the study. Endothelial dysfunction will be measured by venous occlusion plethysmography on the lower legs in the PKU patients and in the control group. Wave velocity, aortic stiffness, and intima media thickness of the common carotid artery will be measured by vicorder and duplex ultrasound scanner in the PKU patients and in the control group. Analyses of phenylalanine metabolites and renal function will be performed only in the PKU patients, analyses of oxidative stress markers in the PKU patients and in the control group. Dietary protocols of the patients with PKU will be calculated for their daily phenylalanine, total protein, and calorie intake. Results of the study will be kept in the medical records and paper case report forms. Data will be analyzed only in pseudonymized form.

Interventions

None listed

Study design

Observational model

CASE_CONTROL

Time perspective

CROSS_SECTIONAL

Eligibility

Sex/Gender

ALL

Age

16 Years to No maximum

Healthy volunteers

Yes

Inclusion criteria

* phenylketonuria due to phenylalanine hydroxylase deficiency * age ≥16 years

Exclusion criteria

* age \<16 years * pregnancy or maternity * late-treated phenylketonuria * phenylketonuria due a defect in BH4 synthesis or BH4 regeneration

Design outcomes

Primary

Measure	Time frame
Post-ischaemic venous flow (measured in ml/min) in patients with PKU compared to healthy volunteers	18 months

Secondary

Measure	Time frame
Aortic pulse wave velocity in patients with PKU compared to healthy volunteers. Intima media thickness in patients with PKU compared to healthy volunteers.	18 months

Outcome results