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Evaluation of PKU Sphere in Maternal PKU

Completed
Conditions
Maternal Phenylketonuria
Interventions
Dietary Supplement: PKU sphere
Registration Number
NCT04224142
Lead Sponsor
Vitaflo International, Ltd
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.

Recruitment & Eligibility

Status
COMPLETED
Sex
Female
Target Recruitment
12
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.

Study & Design

Study Type
OBSERVATIONAL
Study Design
Not specified
Arm && Interventions
GroupInterventionDescription
PKU spherePKU spherePKU sphere (an FSMP) as per individual requirements determined by a dietitian.
Primary Outcome Measures
NameTimeMethod
Participants' gastrointestinal adverse eventsThroughout 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 weightBaseline, every 24 weeks during preconception (max. 2 years) and pregnancy, one month postpartum

Weight (kg)

Change in adherence to study product intakeEvery 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.

Change in plasma amino acid profileBaseline, all routine results during preconception (max. 2 years) and pregnancy, one month postpartum

Plasma amino acid profile

Change in blood spot phenylalanine levelsBaseline, 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 plasma micronutrient profileBaseline, all routine results during preconception (max. 2 years) and pregnancy, one month postpartum

Plasma micronutrient profile

Change in blood spot tyrosine levelsBaseline, 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.

Pregnancy outcomeEnd of pregnancy

Standard of care data on the outcome of the pregnancy

Secondary Outcome Measures
NameTimeMethod

Trial Locations

Locations (3)

Royal Victoria Hospital

🇬🇧

Belfast, United Kingdom

University Hospital of Wales

🇬🇧

Cardiff, United Kingdom

University College London Hospitals NHS Foundation Trust

🇬🇧

London, United Kingdom

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