Observational Study of Endothelial Dysfunction in Phenylketonuria

Endothelial Dysfunction Clinical Trial

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT02176603
• Other study ID #: PKU-EnDys
• Status: Completed
• Phase: N/A
• First received: June 26, 2014
• Last updated: February 22, 2017
• Start date: May 2014
• Est. completion date: January 1, 2017

Study information

• Verified date: February 2017
• Source: Charite University, Berlin, Germany
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 51
• Est. completion date: January 1, 2017
• Est. primary completion date: July 22, 2015
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: 16 Years and older

Eligibility

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

Related Conditions & MeSH terms

• Endothelial Dysfunction
• Phenylketonuria
• Phenylketonurias

Locations

Country	Name	City	State
n/a

Sponsors (2)

Lead Sponsor	Collaborator
Charite University, Berlin, Germany	Johannes Gutenberg University Mainz

References & Publications (5)

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. — View Citation

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. — View Citation

Hennermann JB, Roloff S, Gellermann J, Vollmer I, Windt E, Vetter B, Plöckinger U, Mönch 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. — View Citation

Kracht D, Shroff R, Baig S, Doyon A, Jacobi C, Zeller R, Querfeld U, Schaefer F, Wühl 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. — View Citation

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. Review. — View Citation

Outcome

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