Clinical trial NCT04224142: Evaluation of PKU Sphere in Maternal PKU
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
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Maternal Phenylketonuria
Keywords: Maternal
PKU
Phenylketonuria
GMP
Glycomacropeptide
Lead sponsor: Vitaflo International, Ltd
Sponsor class: INDUSTRY
Collaborators: name: University College London Hospitals
First posted: 2020-01-13
Enrollment: 12
Sex: FEMALE
Minimum age (years): 16
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Maternal and preconception females, aged 16 years onwards with phenylketonuria (PKU) requiring dietary management with protein substitutes.

Brief 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.

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.

Eligibility criteria: Inclusion Criteria:

* 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.

Exclusion Criteria:

* 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.

Primary outcomes:
measure: Change in blood spot phenylalanine levels
timeFrame: Baseline, 1-2 times weekly during preconception (max. 2 years), 2-3 times weekly during pregnancy, one month postpartum.
measure: Change in blood spot tyrosine levels
timeFrame: Baseline, 1-2 times weekly during preconception (max. 2 years), 2-3 times weekly during pregnancy, one month postpartum.
measure: Change in adherence to study product intake
timeFrame: Every 12 weeks from baseline during preconception (max. 2 years) and pregnancy until the end of the pregnancy
measure: Participants' gastrointestinal adverse events
timeFrame: Throughout the study until one month postpartum
measure: Change in weight
timeFrame: Baseline, every 24 weeks during preconception (max. 2 years) and pregnancy, one month postpartum
measure: Change in plasma amino acid profile
timeFrame: Baseline, all routine results during preconception (max. 2 years) and pregnancy, one month postpartum
measure: Change in plasma micronutrient profile
timeFrame: Baseline, all routine results during preconception (max. 2 years) and pregnancy, one month postpartum
measure: Pregnancy outcome
timeFrame: End of pregnancy
Secondary outcomes:
Other outcomes:
Locations:
city: Belfast
country: United Kingdom
facility: Royal Victoria Hospital
city: Cardiff
country: United Kingdom
facility: University Hospital of Wales
city: London
country: United Kingdom
facility: University College London Hospitals NHS Foundation Trust
Study officials:
affiliation: University College London Hospitals
name: Charlotte Ellerton
role: PRINCIPAL_INVESTIGATOR
References: