PhenylketonuriaSNAPNCT03858101
SNAP: Study Nutrients in Adult PKU
An observational study of Phenylketonuria, run by Nutricia Research at 4 sites in 3 countries.
Trial summary
Phenylketonuria (PKU) is a rare inherited metabolic disorder, where subjects are born with a genetic deficiency in the phenylalanine hydroxylase enzyme (PAH), which leaves them unable to convert Phenylalanine (Phe) into Tyrosine (Tyr). Read more about this study
- Who is it for?
- Ages 18 years and olderHealthy volunteers can take part
- Conditions the study is for
- Phenylketonuria
- How many people
- 71 participants
- Where
- 4 sitesin 3 countries
- Study dates
- 15 Apr 2019to 15 May 2023
- 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 18 years and older
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Study population: PKU subjects (18 years and olders) and non PKU comparisons.
Who may be able to join
None listed.
Who cannot join
- Both PKU and Non-PKU comparison subjects:
- For women: Currently pregnant or lactating
- Current psychiatric disorders
- Current Substance Use Disorders (as described in DSM V)
- Current use of psychotropic and/or inotropic medication
- Omega-3, antioxidant, (multi)vitamin and/or (multi)mineral supplement use within six weeks prior to entry in the study
Show all 16Show fewer
- Severe hepatic, thyroid or renal dysfunction
- No acute illnesses like flu, diarrhea, or vomiting (subjects should be symptom free for a week prior to V1)
- Participation in any other clinical intervention studies involving test products concomitantly or within six weeks prior to entry into the study
- Other family members taking part in this study
- PKU subject specific exclusion criteria:
- Use of BH4, or drugs that may interfere with main outcomes
- Non-PKU comparison subjects specific exclusion criteria:
- Any condition or special diet (e.g. vegan or vegetarian diet) that effects the metabolism and/or normal dietary pattern/intake
- A first or second degree relative with inborn errors of metabolism
- Living together with someone with inborn errors of metabolism (e.g. partner, spouse or roommate)
Trial locations and contacts
4 sites in 3 countries.
4 sites in 3 countries
Spain2 sites
Úniversity Clinical Hospital
Santiago de Compostela
Hospital Universitario Virgen del Rocio
Seville
About this study
Official title: An Exploratory Matched Case-control Study to Measure Blood Nutrient Levels of Adult PKU Patients on a Protein Substitute.
Phenylketonuria (PKU) is a rare inherited metabolic disorder, where subjects are born with a genetic deficiency in the phenylalanine hydroxylase enzyme (PAH), which leaves them unable to convert Phenylalanine (Phe) into Tyrosine (Tyr). PKU patients have specific dietary needs and must follow a restrictive diet in the aim of preventing toxic levels of the amino acid phenylalanine (Phe) accumulation.
Read the detailed description
The aim of this explorative cross-sectional study is to gain quantitative insights on blood nutrient levels of adult PKU patients on a protein substitute.
- Conditions
- Phenylketonuria
- 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 |
|---|---|---|
| PKU subjects | Not described | |
| Age and sex-matched non-PKU comparison subjects | Not described |
What is being measured
The primary outcome is the main question the study is designed to answer.
Blood nutritional status
Micro-and macronutrients and amino acid levels [in a.o. mg/L]
Measured: day 1
Secondary outcomes (3)
Blood nutritional status
Phe/Tyr ratio [µmol/L]
Measured: day 1
Nutrient intake
measured by three-day food diary. Nutrients in [mg/day]
Measured: day 1 - day 7
Subjective cognitive well-being
measured by FACT-Cog questionnaire: [four domains [score-range): 1) patients' perceived cognitive impairments [0-80]; 2) perceived cognitive abilities [0-36]; 3) noticeability or comments from others [0-16]; 4) impact of cognitive changes on quality of life [0-16]. A summary score is obtained by summing all item scores [0-148].
Measured: day 1 - day 7
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted28 Feb 2019
- Study start15 Apr 2019
- Primary completion3 Mar 2023
- Study completion15 May 2023
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for PhenylketonuriaStudies 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
- Other
- Time perspective
- Cross-sectional
- Enrolment
- 71 participants (actual)
Sponsor and investigators
- Lead sponsor
- Nutricia Research
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03858101
- Sponsor's protocol ID
- MBB16TA10778
- Acronym
- SNAP
- Status last verified
- Sep 2021
- First submitted
- 27 Feb 2019
- Last updated
- 2 Jun 2023
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 2 Jun 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- An Exploratory Matched Case-control Study to Measure Blood Nutrient Levels of Adult PKU Patients on a Protein Substitute.
- ClinicalTrials.gov ID
- NCT03858101
- Acronym / sponsor ID
- SNAP / MBB16TA10778
- Conditions
- Phenylketonuria
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 71 participants (actual)
- Lead sponsor
- Nutricia ResearchIndustry (pharma, biotech, devices)
- Study start
- 15 Apr 2019 (actual)
- Primary completion
- 3 Mar 2023 (actual)
- Study completion
- 15 May 2023 (actual)
- First posted
- 28 Feb 2019 (actual)
- 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.
Phenylketonuria (PKU) is a rare inherited metabolic disorder, where subjects are born with a genetic deficiency in the phenylalanine hydroxylase enzyme (PAH), which leaves them unable to convert Phenylalanine (Phe) into Tyrosine (Tyr). PKU patients have specific dietary needs and must follow a restrictive diet in the aim of preventing toxic levels of the amino acid phenylalanine (Phe) accumulation.
Detailed description
The aim of this explorative cross-sectional study is to gain quantitative insights on blood nutrient levels of adult PKU patients on a protein substitute.
Study design
- Observational model
- Other
- Time perspective
- Cross-sectional
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| PKU subjects | – | – |
| Age and sex-matched non-PKU comparison subjects | – | – |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- Study population
- PKU subjects (18 years and olders) and non PKU comparisons.
Key inclusion criteria (0 listed)
Key exclusion criteria (16 listed)
- For women: Currently pregnant or lactating
- Current psychiatric disorders
- Current Substance Use Disorders (as described in DSM V)
- Current use of psychotropic and/or inotropic medication
- Omega-3, antioxidant, (multi)vitamin and/or (multi)mineral supplement use within six weeks prior to entry in the study
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
Blood nutritional status
Time frame: day 1
Micro-and macronutrients and amino acid levels [in a.o. mg/L]
3 secondary outcomes
Blood nutritional status
Time frame: day 1
Nutrient intake
Time frame: day 1 - day 7
Subjective cognitive well-being
Time frame: day 1 - day 7
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 2 Jun 2023.
- 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.
The record lists no contact. Use the official record to reach the sponsor.
4 sites in 3 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Phenylketonuria, run by Nutricia Research at 4 sites in 3 countries.
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 0 inclusion and 16 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 2 Jun 2023. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 4 sites in Spain, Belgium, Denmark. 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?
Blood nutritional status (time frame: day 1). 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 2 Jun 2023; AzTrials last refreshed its copy on 26 Oct 2026.