Observational Study of Endothelial Dysfunction in Phenylketonuria

February 22, 2017 updated by: Uwe Querfeld, Charite University, Berlin, Germany

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

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.

Study Overview

Status

Completed

Conditions

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.

Study Type

Observational

Enrollment (Actual)

51

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

16 years and older (Child, Adult, Older Adult)

Accepts Healthy Volunteers

Yes

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

Patients aged ≥ 16 years with PKU diagnosed by newborn screening who are followed up in the Metabolic Unit of the Charité University Medical Center Berlin (Interdisciplinary Center for Metabolic Diseases, Dept. of Hepatology and Gastroenterology, as well as Dept. of Pediatric Endocrinology, Gastroenterology and Metabolic Diseases).

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Patients with Phenylketonuria
Patients with Phenylketonuria due to phenylalanine hydroxylase deficiency
Control group
Control group of healthy volunteers

What is the study measuring?

Primary Outcome Measures

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

Secondary Outcome Measures

Outcome 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.
Time Frame: 18 months
18 months

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Charite University, Berlin, Germany

Collaborators

Johannes Gutenberg University Mainz

Investigators

  • Principal Investigator: Julia B Hennermann, MD, Johannes Gutenberg University Mainz, Germany
  • Principal Investigator: Uwe Querfeld, MD, Charite University, Berlin, Germany

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

May 1, 2014

Primary Completion (Actual)

July 22, 2015

Study Completion (Actual)

January 1, 2017

Study Registration Dates

First Submitted

June 26, 2014

First Submitted That Met QC Criteria

June 26, 2014

First Posted (Estimate)

June 27, 2014

Study Record Updates

Last Update Posted (Actual)

February 23, 2017

Last Update Submitted That Met QC Criteria

February 22, 2017

Last Verified

February 1, 2017

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • PKU-EnDys

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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