Phenylketonuria (PKU) and HyperphenylalaninemiaNCT01879995
Phenylketonuria and Hyperphenylalaninemia Nutrition Study
An observational study of Phenylketonuria (PKU) and Hyperphenylalaninemia, run by University of Zurich at 2 sites in Switzerland.
Trial summary
The mainstay of PKU treatment is a low-phenylalanine diet (i.e restriction of natural protein), and supplementation with a protein substitute (a mixture of amino acids free from phenylalanine, also containing micronutrients and vitamins) and special low-protein foods, to meet the patient's energy requirements. Read more about this study
- Who is it for?
- Ages 16 years and older
- Conditions the study is for
- Phenylketonuria (PKU) and Hyperphenylalaninemia
- How many people
- 30 participants
- Where
- 2 sitesSwitzerland
- Study dates
- Jun 2013to Jul 2015
- 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
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patients with phenylketonuria or hyperphenylalaninemia, in treatment at the participating centres
Who may be able to join
- PKU (Phenylketonuria) or hyperphenylalaninemia
- male or female, minimum age 16y
- signed informed consent
Who cannot join
- patient who can not comply with the study protocol (e.g. unable to fill in questionnaires by themselves or a representative)
Trial locations and contacts
2 sites in 1 country.
Switzerland2 sites
University Hospital Zurich, Division of Endocrinology, Diabetes and Clinical Nutrition
Zurich, Canton of Zurich, 8091
University Children's Hospital
Zurich, CH-8032
About this study
Official title: Nutrition Status of Adult and Adolescent Patients With Classical Phenylketonuria (PKU) and Hyperphenylalaninemia
The mainstay of PKU treatment is a low-phenylalanine diet (i.e restriction of natural protein), and supplementation with a protein substitute (a mixture of amino acids free from phenylalanine, also containing micronutrients and vitamins) and special low-protein foods, to meet the patient's energy requirements. When diet and treatment is relaxed after childhood, adult and adolescent patients with phenylketonuria are at risk for malnutrition, depending on the compliance with treatment and the intake of amino acid supplements.
In this study, nutrition status of patients with PKU and hyperphenylalaninemia is systematically assessed under ongoing current treatment, in relation to Phe-tolerance, compliance with treatment, and psychosocial issues.
Study participants do not undergo any specific therapeutic or diagnostic intervention.
- Medical subject headings
- Phenylketonurias
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Procedure or surgery
What is being measured
The primary outcome is the main question the study is designed to answer.
Macronutrient and micronutrient intake, calculated from a nutrition protocol (four consecutive days)
Assessed nutrients:
Macronutrients: protein, fat, carbohydrates in g/kg/d
Daily phenylalanine and tyrosine intake Micronutrients and minerals: Calcium, magnesium, iron, zinc, selenium
Vitamins: D, B12, B6, C, folic acid
Measured: assessed during 4 consecutive days max. within 1 month after a regular consultation in the outpatient clinic
Secondary outcomes (4)
Phenylalanine level (umol/l)
this outcome measure is not study-specific and is collected as part of established routine care (self-measurement by patient)
Measured: assessed at the end of the four-day nutrition protocol (see primary outcome)
Plasma amino acid profile
this outcome measure is not study-specific and is collected as part of established routine care.
Measured: determined at a routine visit at the outpatient clinic, on average 1x per year
Concentrations of micronutrients, minerals and vitamins
assessed parameters: Ferritin, zinc, selenium, vitamin D, vitamin B12, folic acid.
These outcome measures are not study-specific and are collected as part of established routine care
Measured: determined at a routine visit at the outpatient clinic, on average 1x per year
body weight (kg)
assessed as part of routine clinical care
Measured: determined at a routine visit at the outpatient clinic, on average once every 6 - 12 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted18 Jun 2013 (estimated)
- Study startJun 2013
- Primary completionJul 2015
- Study completionJul 2015
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Phenylketonuria (PKU) and HyperphenylalaninemiaStudies of the same condition, open and under way.
- 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
- Cohort
- Time perspective
- Cross-sectional
- Enrolment
- 30 participants (actual)
Sponsor and investigators
- Lead sponsor
- University of Zurich
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Michel Hochuli, MD PhD, Principal investigator, University Hospital Zurich, Division of Endocrinology, Diabetes and Clinical Nutrition
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01879995
- Sponsor's protocol ID
- KEK-ZH-Nr. 2013-0120
- Status last verified
- Feb 2016
- First submitted
- 4 Jun 2013
- Last updated
- 8 Feb 2016
- Results posted
- No
Study at a glance
From the registry record, last updated by the sponsor on 8 Feb 2016. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Nutrition Status of Adult and Adolescent Patients With Classical Phenylketonuria (PKU) and Hyperphenylalaninemia
- ClinicalTrials.gov ID
- NCT01879995
- Acronym / sponsor ID
- KEK-ZH-Nr. 2013-0120
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 30 participants (actual)
- Lead sponsor
- University of ZurichUniversity, hospital or other
- Study start
- Jun 2013
- Primary completion
- Jul 2015 (actual)
- Study completion
- Jul 2015 (actual)
- First posted
- 18 Jun 2013 (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 mainstay of PKU treatment is a low-phenylalanine diet (i.e restriction of natural protein), and supplementation with a protein substitute (a mixture of amino acids free from phenylalanine, also containing micronutrients and vitamins) and special low-protein foods, to meet the patient's energy requirements. When diet and treatment is relaxed after childhood, adult and adolescent patients with phenylketonuria are at risk for malnutrition, depending on the compliance with treatment and the intake of amino acid supplements.
In this study, nutrition status of patients with PKU and hyperphenylalaninemia is systematically assessed under ongoing current treatment, in relation to Phe-tolerance, compliance with treatment, and psychosocial issues.
Study participants do not undergo any specific therapeutic or diagnostic intervention.
Study design
- Observational model
- Cohort
- Time perspective
- Cross-sectional
Who may qualify
- Ages
- 16 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients with phenylketonuria or hyperphenylalaninemia, in treatment at the participating centres
Key inclusion criteria (3 listed)
- PKU (Phenylketonuria) or hyperphenylalaninemia
- male or female, minimum age 16y
- signed informed consent
Key exclusion criteria (1 listed)
- patient who can not comply with the study protocol (e.g. unable to fill in questionnaires by themselves or a representative)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Procedure or surgery | – |
Primary outcome
Macronutrient and micronutrient intake, calculated from a nutrition protocol (four consecutive days)
Time frame: assessed during 4 consecutive days max. within 1 month after a regular consultation in the outpatient clinic
Assessed nutrients: Macronutrients: protein, fat, carbohydrates in g/kg/d Daily phenylalanine and tyrosine intake Micronutrients and minerals: Calcium, magnesium, iron, zinc, selenium Vitamins: D, B12, B6, C, folic acid
4 secondary outcomes
Phenylalanine level (umol/l)
Time frame: assessed at the end of the four-day nutrition protocol (see primary outcome)
Plasma amino acid profile
Time frame: determined at a routine visit at the outpatient clinic, on average 1x per year
Concentrations of micronutrients, minerals and vitamins
Time frame: determined at a routine visit at the outpatient clinic, on average 1x per year
body weight (kg)
Time frame: determined at a routine visit at the outpatient clinic, on average once every 6 - 12 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 8 Feb 2016.
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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.
Michel Hochuli, MD PhD principal investigator
University Hospital Zurich, Division of Endocrinology, Diabetes and Clinical Nutrition
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Phenylketonuria (PKU) and Hyperphenylalaninemia, run by University of Zurich at 2 sites in Switzerland.
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 3 inclusion and 1 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 8 Feb 2016. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites in Switzerland. Whether a site is taking part right now should be confirmed with that site. See every site.
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?
Macronutrient and micronutrient intake, calculated from a nutrition protocol (four consecutive days) (time frame: assessed during 4 consecutive days max. within 1 month after a regular consultation in the outpatient clinic). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
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 8 Feb 2016.