Observational Study of Endothelial Dysfunction in Phenylketonuria

NCT ID: NCT02176603

Last Updated: 2017-02-23

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

51 participants

Study Classification

OBSERVATIONAL

Study Start Date

2014-05-31

Study Completion Date

2017-01-01

Brief Summary

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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

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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.

Conditions

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Phenylketonuria Endothelial Dysfunction

Study Design

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Observational Model Type

CASE_CONTROL

Study Time Perspective

CROSS_SECTIONAL

Study Groups

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Patients with Phenylketonuria

Patients with Phenylketonuria due to phenylalanine hydroxylase deficiency

No interventions assigned to this group

Control group

Control group of healthy volunteers

No interventions assigned to this group

Eligibility Criteria

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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
Minimum Eligible Age

16 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Sponsors

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Johannes Gutenberg University Mainz

OTHER

Sponsor Role collaborator

Charite University, Berlin, Germany

OTHER

Sponsor Role lead

Responsible Party

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Uwe Querfeld

Prof. Dr.

Responsibility Role PRINCIPAL_INVESTIGATOR

Principal Investigators

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Julia B Hennermann, MD

Role: PRINCIPAL_INVESTIGATOR

Johannes Gutenberg University Mainz, Germany

Uwe Querfeld, MD

Role: PRINCIPAL_INVESTIGATOR

Charite University, Berlin, Germany

References

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Briese S, Claus M, Querfeld U. Arterial stiffness in children after renal transplantation. Pediatr Nephrol. 2008 Dec;23(12):2241-5. doi: 10.1007/s00467-008-0894-y. Epub 2008 Jun 27.

Reference Type BACKGROUND
PMID: 18584211 (View on PubMed)

Ribas GS, Sitta A, Wajner M, Vargas CR. Oxidative stress in phenylketonuria: what is the evidence? Cell Mol Neurobiol. 2011 Jul;31(5):653-62. doi: 10.1007/s10571-011-9693-2. Epub 2011 Apr 23.

Reference Type BACKGROUND
PMID: 21516352 (View on PubMed)

Kracht D, Shroff R, Baig S, Doyon A, Jacobi C, Zeller R, Querfeld U, Schaefer F, Wuhl E, Schmidt BM, Melk A; 4C Study Consortium. Validating a new oscillometric device for aortic pulse wave velocity measurements in children and adolescents. Am J Hypertens. 2011 Dec;24(12):1294-9. doi: 10.1038/ajh.2011.147. Epub 2011 Aug 25.

Reference Type BACKGROUND
PMID: 21866186 (View on PubMed)

Hennermann JB, Roloff S, Gellermann J, Vollmer I, Windt E, Vetter B, Plockinger U, Monch E, Querfeld U. Chronic kidney disease in adolescent and adult patients with phenylketonuria. J Inherit Metab Dis. 2013 Sep;36(5):747-56. doi: 10.1007/s10545-012-9548-0. Epub 2012 Nov 9.

Reference Type BACKGROUND
PMID: 23138985 (View on PubMed)

Hennermann JB, Querfeld U. Unknown pathomechanisms of renal impairment in PKU. J Inherit Metab Dis. 2013 Nov;36(6):1087-8. doi: 10.1007/s10545-013-9652-9. Epub 2013 Sep 17. No abstract available.

Reference Type BACKGROUND
PMID: 24043382 (View on PubMed)

Other Identifiers

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PKU-EnDys

Identifier Type: -

Identifier Source: org_study_id

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