Maternal PhenylketonuriaMaternal PKUNCT04224142
Evaluation of PKU Sphere in Maternal PKU
An observational study of Maternal Phenylketonuria, run by Vitaflo International, Ltd at 3 sites in United Kingdom.
Trial summary
This observational study aims to recruit females, aged 16 years and over, with phenylketonuria (PKU) or hyperphenylalaninemia (hyperphe) following dietary management advice pre-conception and/or during pregnancy, who are willing to take PKU sphere as part of their dietarty management. Read more about this study
- Who is it for?
- Ages 16 years and older, women only
- Conditions the study is for
- Maternal Phenylketonuria
- What is being tested?
- PKU sphere
- How many people
- 12 participants
- Where
- 3 sitesUnited Kingdom
- Study dates
- 29 Jul 2019to 7 Oct 2025
- 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
- Women only
- No healthy volunteers
- Child, Adult, Older adult
Study population: Maternal and preconception females, aged 16 years onwards with phenylketonuria (PKU) requiring dietary management with protein substitutes.
Who may be able to join
- Diagnosis of phenylketonuria (PKU) or hyperphenylalaninemia (hyperphe) which requires dietary management during pre-conception and/or pregnancy.
- Aged 16 years and above.
- Following dietary management advice pre-conceptually and/or during pregnancy, aiming for phenylalanine levels of 120-250µmol/L.
- Prior positive PKU sphere taste test completed as part of routine care.
- Chosen to take part or full requirement of protein substitute as PKU sphere pre-conceptually and/or during pregnancy.
- Willingly given, written, informed consent from patient.
- Participant is, in the opinion of the investigator, able to participate and can comply with the study protocol.
Who cannot join
- Conception of pregnancy without commencement of phe-restricted diet and blood phenylalanine not maintained within target range by 10 weeks' gestation.
- Patients with known soya, milk or fish allergies / intolerance.
- Intake of pegvaliase or large neutral amino acids within 30 days prior to screening visit.
- Patients who are currently participating in, plan to participate in, or have participated in an interventional investigational drug, food or medical device trial within 30 days prior to screening visit.
Trial locations and contacts
3 sites in 1 country.
United Kingdom3 sites
Royal Victoria Hospital
Belfast
University Hospital of Wales
Cardiff
University College London Hospitals NHS Foundation Trust
London
About this study
Official title: An Observational Study to Evaluate Metabolic Control and Dietary Management in Women With PKU Taking PKU Sphere During Pre-conception and/or Pregnancy
This observational study aims to recruit females, aged 16 years and over, with phenylketonuria (PKU) or hyperphenylalaninemia (hyperphe) following dietary management advice pre-conception and/or during pregnancy, who are willing to take PKU sphere as part of their dietarty management.
Read the detailed description
The aim of this study is to observe dietary management and metabolic control in women taking PKU sphere pre-conceptually and/or during pregnancy. To do this the following data points will be captured:
- Blood spot phenylalanine and tyrosine levels to measure metabolic control
- Changes to dietary management and any adaptations arising from incorporating PKU Sphere
- Compliance/adherence of patients to their recommended amount of protein substitute prescription.
- Tolerance of PKU sphere with respect to gastrointestinal (GI) symptoms and pregnancy associated nausea and vomiting.
- Acceptability of concurrent protein substitute(s) (if applicable).
- Nutritional status and weight management.
- Routine standard of care data on the final pregnancy outcome and postpartum.
- Conditions
- Maternal Phenylketonuria
- Being tested
- PKU sphere
- Keywords
- Maternal, PKU, Phenylketonuria, GMP, Glycomacropeptide
- Medical subject headings
- Phenylketonuria, Maternal, Phenylketonurias
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
PKU sphereDietary supplement
PKU sphere is a Food for Special Medical Purposes (FSMP). This product is for use in the dietary management of phenylketonuria (PKU).
It is a powdered, low phenylalanine medical food containing a balanced mix of GMP, essential and non-essential amino acids, carbohydrate, fat, vitamins, minerals, and DHA.
It is available in 27g sachets providing 15g PE and contains 28mg Phe and 35g sachets providing 20g PE and contains 36mg Phe.
| Study group | Role | What they receive |
|---|---|---|
| PKU sphere | PKU sphere (an FSMP) as per individual requirements determined by a dietitian. Receives: Dietary Supplement: PKU sphere |
What is being measured
The primary outcome is the main question the study is designed to answer.
Change in blood spot phenylalanine levels
Measurement of fasting phenylalanine concentrations completed once (1) to twice (2) weekly preconception (which may last for an indeterminate amount of time), twice (2) to three (3) times weekly during pregnancy and one month postpartum. Collected as dried bloodspots on Guthrie cards in the patient's own home and posted to the hospital laboratory for analysis.
Measured: Baseline, 1-2 times weekly during preconception (max. 2 years), 2-3 times weekly during pregnancy, one month postpartum.
Change in blood spot tyrosine levels
Measurement of fasting tyrosine concentrations completed once (1) to twice (2) weekly preconception (which may last for an indeterminate amount of time), twice (2) to three (3) times weekly during pregnancy and one month postpartum. Collected as dried bloodspots on Guthrie cards in the patient's own home and posted to the hospital laboratory for analysis.
Measured: Baseline, 1-2 times weekly during preconception (max. 2 years), 2-3 times weekly during pregnancy, one month postpartum.
Change in adherence to study product intake
3-day diary recording compliance/adherence of patients to their prescribed amount of protein substitute.
Measured: Every 12 weeks from baseline during preconception (max. 2 years) and pregnancy until the end of the pregnancy
Participants' gastrointestinal adverse events
Participant to report any gastrointestinal (GI) symptoms and pregnancy-associated nausea and vomiting while consuming PKU Sphere.
Measured: Throughout the study until one month postpartum
Change in weight
Weight (kg)
Measured: Baseline, every 24 weeks during preconception (max. 2 years) and pregnancy, one month postpartum
Change in plasma amino acid profile
Plasma amino acid profile
Measured: Baseline, all routine results during preconception (max. 2 years) and pregnancy, one month postpartum
Change in plasma micronutrient profile
Plasma micronutrient profile
Measured: Baseline, all routine results during preconception (max. 2 years) and pregnancy, one month postpartum
Pregnancy outcome
Standard of care data on the outcome of the pregnancy
Measured: End of pregnancy
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted13 Jan 2020
- Study start29 Jul 2019
- Primary completion7 Oct 2025
- Study completion7 Oct 2025
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Maternal 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
- Cohort
- Time perspective
- Prospective
- Enrolment
- 12 participants (actual)
Sponsor and investigators
- Lead sponsor
- Vitaflo International, Ltd
- Sponsor type
- Industry (pharma, biotech, devices)
- Collaborators
- University College London Hospitals
- Responsible party
- Sponsor
- Investigators
- Charlotte Ellerton, Principal investigator, University College London Hospitals
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04224142
- Sponsor's protocol ID
- MCT-GMP-2018-08-14
- Other IDs
- 256857, 19/NW/0167
- Acronym
- Maternal PKU
- Status last verified
- Nov 2025
- First submitted
- 7 Oct 2019
- Last updated
- 28 Nov 2025
- Results posted
- No
- Data monitoring committee
- No
- 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 28 Nov 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- An Observational Study to Evaluate Metabolic Control and Dietary Management in Women With PKU Taking PKU Sphere During Pre-conception and/or Pregnancy
- ClinicalTrials.gov ID
- NCT04224142
- Acronym / sponsor ID
- Maternal PKU / MCT-GMP-2018-08-14
- Conditions
- Maternal Phenylketonuria
- Keywords
- Maternal, PKU, Phenylketonuria, GMP, Glycomacropeptide
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 12 participants (actual)
- Lead sponsor
- Vitaflo International, LtdIndustry (pharma, biotech, devices)
- Collaborators
- University College London Hospitals
- Study start
- 29 Jul 2019 (actual)
- Primary completion
- 7 Oct 2025 (actual)
- Study completion
- 7 Oct 2025 (actual)
- First posted
- 13 Jan 2020 (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.
This observational study aims to recruit females, aged 16 years and over, with phenylketonuria (PKU) or hyperphenylalaninemia (hyperphe) following dietary management advice pre-conception and/or during pregnancy, who are willing to take PKU sphere as part of their dietarty management.
Detailed description
The aim of this study is to observe dietary management and metabolic control in women taking PKU sphere pre-conceptually and/or during pregnancy. To do this the following data points will be captured:
- Blood spot phenylalanine and tyrosine levels to measure metabolic control
- Changes to dietary management and any adaptations arising from incorporating PKU Sphere
- Compliance/adherence of patients to their recommended amount of protein substitute prescription.
- Tolerance of PKU sphere with respect to gastrointestinal (GI) symptoms and pregnancy associated nausea and vomiting.
- Acceptability of concurrent protein substitute(s) (if applicable).
- Nutritional status and weight management.
- Routine standard of care data on the final pregnancy outcome and postpartum.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| PKU sphere | – | Dietary Supplement: PKU spherePKU sphere (an FSMP) as per individual requirements determined by a dietitian. |
Who may qualify
- Ages
- 16 years and older
- Sex
- Female only
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Maternal and preconception females, aged 16 years onwards with phenylketonuria (PKU) requiring dietary management with protein substitutes.
Key inclusion criteria (7 listed)
- Diagnosis of phenylketonuria (PKU) or hyperphenylalaninemia (hyperphe) which requires dietary management during pre-conception and/or pregnancy.
- Aged 16 years and above.
- Following dietary management advice pre-conceptually and/or during pregnancy, aiming for phenylalanine levels of 120-250µmol/L.
- Prior positive PKU sphere taste test completed as part of routine care.
- Chosen to take part or full requirement of protein substitute as PKU sphere pre-conceptually and/or during pregnancy.
Key exclusion criteria (4 listed)
- Conception of pregnancy without commencement of phe-restricted diet and blood phenylalanine not maintained within target range by 10 weeks' gestation.
- Patients with known soya, milk or fish allergies / intolerance.
- Intake of pegvaliase or large neutral amino acids within 30 days prior to screening visit.
- Patients who are currently participating in, plan to participate in, or have participated in an interventional investigational drug, food or medical device trial within 30 days prior to screening visit.
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 |
|---|---|---|
| PKU spherePKU sphere is a Food for Special Medical Purposes (FSMP). This product is for use in the dietary management of phenylketonuria (PKU). It is a powdered, low phenylalanine medical food containing a balanced mix of GMP, essential and non-essential amino acids, carbohydrate, fat, vitamins, minerals, and DHA. It is available in 27g sachets providing 15g PE and contains 28mg Phe and 35g sachets providing 20g PE and contains 36mg Phe. | Dietary supplement | PKU sphere |
Primary outcome
Change in blood spot phenylalanine levels
Time frame: Baseline, 1-2 times weekly during preconception (max. 2 years), 2-3 times weekly during pregnancy, one month postpartum.
Measurement of fasting phenylalanine concentrations completed once (1) to twice (2) weekly preconception (which may last for an indeterminate amount of time), twice (2) to three (3) times weekly during pregnancy and one month postpartum. Collected as dried bloodspots on Guthrie cards in the patient's own home and posted to the hospital laboratory for analysis.
Change in blood spot tyrosine levels
Time frame: Baseline, 1-2 times weekly during preconception (max. 2 years), 2-3 times weekly during pregnancy, one month postpartum.
Measurement of fasting tyrosine concentrations completed once (1) to twice (2) weekly preconception (which may last for an indeterminate amount of time), twice (2) to three (3) times weekly during pregnancy and one month postpartum. Collected as dried bloodspots on Guthrie cards in the patient's own home and posted to the hospital laboratory for analysis.
Change in adherence to study product intake
Time frame: Every 12 weeks from baseline during preconception (max. 2 years) and pregnancy until the end of the pregnancy
3-day diary recording compliance/adherence of patients to their prescribed amount of protein substitute.
Participants' gastrointestinal adverse events
Time frame: Throughout the study until one month postpartum
Participant to report any gastrointestinal (GI) symptoms and pregnancy-associated nausea and vomiting while consuming PKU Sphere.
Change in weight
Time frame: Baseline, every 24 weeks during preconception (max. 2 years) and pregnancy, one month postpartum
Weight (kg)
Change in plasma amino acid profile
Time frame: Baseline, all routine results during preconception (max. 2 years) and pregnancy, one month postpartum
Plasma amino acid profile
Change in plasma micronutrient profile
Time frame: Baseline, all routine results during preconception (max. 2 years) and pregnancy, one month postpartum
Plasma micronutrient profile
Pregnancy outcome
Time frame: End of pregnancy
Standard of care data on the outcome of the pregnancy
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 28 Nov 2025.
- Individual participant dataSharing planned: No
Related trials for Maternal Phenylketonuria
Recruiting
Educational, Social Support, and Nutritional Interventions and Their Cumulative Effect on Pregnancy Outcomes and Quality of Life in Teen and Adult Women With Phenylketonuria
Pregnancy, Phenylketonuria
RecruitingObservational study
A Global, Multicenter Study to Assess Maternal, Fetal and Infant Outcomes of Exposure to Palynziq® (Pegvaliase) During Pregnancy and Breastfeeding
Phenylketonuria, Maternal
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.
Charlotte Ellerton principal investigator
University College London Hospitals
3 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Maternal Phenylketonuria, run by Vitaflo International, Ltd at 3 sites in United Kingdom.
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 7 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 28 Nov 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 3 sites in United Kingdom. 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?
Change in blood spot phenylalanine levels (time frame: Baseline, 1-2 times weekly during preconception (max. 2 years), 2-3 times weekly during pregnancy, one month postpartum.). The study lists 8 primary outcomes in all. 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 28 Nov 2025.