PhenylketonuriaNCT02176603
Observational Study of Endothelial Dysfunction in Phenylketonuria
An observational study of Phenylketonuria and Endothelial Dysfunction, run by Charite University, Berlin, Germany.
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. Read more about this study
- Who is it for?
- Ages 16 years and olderHealthy volunteers can take part
- Conditions the study is for
- Phenylketonuria, Endothelial Dysfunction
- How many people
- 51 participants
- Where
- No sites listed yet
- Study dates
- May 2014to 1 Jan 2017
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 16 years and older
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
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).
Who may be able to join
- phenylketonuria due to phenylalanine hydroxylase deficiency
- age ≥16 years
Who cannot join
- age <16 years
- pregnancy or maternity
- late-treated phenylketonuria
- phenylketonuria due a defect in BH4 synthesis or BH4 regeneration
About this study
Official title: 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.
Read the 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.
- Conditions
- Phenylketonuria, Endothelial Dysfunction
- Keywords
- phenylketonuria, endothelial dysfunction, CKD
- Medical subject headings
- Phenylketonurias
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Patients with Phenylketonuria | Patients with Phenylketonuria due to phenylalanine hydroxylase deficiency | |
| Control group | Control group of healthy volunteers |
What is being measured
The primary outcome is the main question the study is designed to answer.
Post-ischaemic venous flow (measured in ml/min) in patients with PKU compared to healthy volunteers
Measured: 18 months
Secondary outcomes (1)
Aortic pulse wave velocity in patients with PKU compared to healthy volunteers. Intima media thickness in patients with PKU compared to healthy volunteers.
Measured: 18 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted27 Jun 2014 (estimated)
- Study startMay 2014
- Primary completion22 Jul 2015
- Study completion1 Jan 2017
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (5)Papers the sponsor has linked to this study.
- Other trials for PhenylketonuriaStudies of the same condition, open and under way.
- More trials run by Charite University, Berlin, GermanyThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Cross-sectional
- Enrolment
- 51 participants (actual)
Sponsor and investigators
- Lead sponsor
- Charite University, Berlin, Germany
- Sponsor type
- University, hospital or other
- Collaborators
- Johannes Gutenberg University Mainz
- Responsible party
- Principal investigator, Uwe Querfeld, Charite University, Berlin, Germany
- Investigators
- Julia B Hennermann, MD, Principal investigator, Johannes Gutenberg University Mainz, GermanyUwe Querfeld, MD, Principal investigator, Charite University, Berlin, Germany
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02176603
- Sponsor's protocol ID
- PKU-EnDys
- Status last verified
- Feb 2017
- First submitted
- 26 Jun 2014
- Last updated
- 23 Feb 2017
- Results posted
- No
- Data monitoring committee
- No
- Individual data sharing
- No
Publications
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.
PubMed 18584211Ribas 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.
PubMed 21516352Kracht 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.
PubMed 21866186Hennermann 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.
PubMed 23138985Hennermann 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.
PubMed 24043382
Study at a glance
From the registry record, last updated by the sponsor on 23 Feb 2017. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Observational, Investigator Initiated, Monocentric Study of the Endothelial Dysfunction in Adolescent and Adult Patients With Phenylketonuria Due to Phenylalanine Hydroxylase Deficiency
- ClinicalTrials.gov ID
- NCT02176603
- Acronym / sponsor ID
- PKU-EnDys
- Conditions
- Phenylketonuria, Endothelial Dysfunction
- Keywords
- phenylketonuria, endothelial dysfunction, CKD
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 51 participants (actual)
- Lead sponsor
- Charite University, Berlin, GermanyUniversity, hospital or other
- Collaborators
- Johannes Gutenberg University Mainz
- Study start
- May 2014
- Primary completion
- 22 Jul 2015 (actual)
- Study completion
- 1 Jan 2017 (actual)
- First posted
- 27 Jun 2014 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Case-control
- Time perspective
- Cross-sectional
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Patients with Phenylketonuria | – | –Patients with Phenylketonuria due to phenylalanine hydroxylase deficiency |
| Control group | – | –Control group of healthy volunteers |
Who may qualify
- Ages
- 16 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- 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).
Key inclusion criteria (2 listed)
- phenylketonuria due to phenylalanine hydroxylase deficiency
- age ≥16 years
Key exclusion criteria (4 listed)
- age <16 years
- pregnancy or maternity
- late-treated phenylketonuria
- phenylketonuria due a defect in BH4 synthesis or BH4 regeneration
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Post-ischaemic venous flow (measured in ml/min) in patients with PKU compared to healthy volunteers
Time frame: 18 months
1 secondary outcome
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
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 23 Feb 2017.
- Background: PubMed 18584211Briese 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.
- Background: PubMed 21516352Ribas 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.
- Background: PubMed 21866186Kracht 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.
- Background: PubMed 23138985Hennermann 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.
- Background: PubMed 24043382Hennermann 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.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Julia B Hennermann, MD principal investigator
Johannes Gutenberg University Mainz, Germany
Uwe Querfeld, MD principal investigator
Charite University, Berlin, Germany
Questions about this trial
What is this clinical trial studying?
An observational study of Phenylketonuria and Endothelial Dysfunction, run by Charite University, Berlin, Germany.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 4 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 23 Feb 2017. Status can change between updates, so confirm with the study contact before making plans.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Post-ischaemic venous flow (measured in ml/min) in patients with PKU compared to healthy volunteers (time frame: 18 months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT02176603, which also lists 5 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 23 Feb 2017.