Evaluation of PKU Sphere in Maternal PKU

Vitaflo International, Ltd12 enrolled

Overview

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.

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 Type

OBSERVATIONAL

Enrollment

Conditions

Maternal Phenylketonuria

Interventions

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.

Eligibility

Sex: FEMALEMin age: 16 Years

Medical Language ↔ Plain English

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.

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

Outcomes

Primary Outcomes

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.

Time frame: 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.

Time frame: 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.

Time frame: 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.

Time frame: Throughout the study until one month postpartum

Change in weight

Weight (kg)

Time frame: Baseline, every 24 weeks during preconception (max. 2 years) and pregnancy, one month postpartum

Change in plasma amino acid profile

Data from ClinicalTrials.gov

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