Maternal Phenylketonuria Clinical Trial
— Maternal PKUOfficial 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.
| Status | Recruiting |
| Enrollment | 10 |
| Est. completion date | June 30, 2025 |
| Est. primary completion date | June 30, 2025 |
| Accepts healthy volunteers | No |
| Gender | Female |
| Age group | 16 Years and older |
| Eligibility | 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. |
| Country | Name | City | State |
|---|---|---|---|
| United Kingdom | Royal Victoria Hospital | Belfast | |
| United Kingdom | University Hospital of Wales | Cardiff | |
| United Kingdom | NHS Greater Glasgow and Clyde | Glasgow | |
| United Kingdom | University College London Hospitals NHS Foundation Trust | London |
| Lead Sponsor | Collaborator |
|---|---|
| Vitaflo International, Ltd | University College London Hospitals |
United Kingdom,
| Type | Measure | Description | Time frame | Safety issue |
|---|---|---|---|---|
| Primary | 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. | Baseline, 1-2 times weekly during preconception (max. 2 years), 2-3 times weekly during pregnancy, one month postpartum. | |
| Primary | 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. | Baseline, 1-2 times weekly during preconception (max. 2 years), 2-3 times weekly during pregnancy, one month postpartum. | |
| Primary | Change in adherence to study product intake | 3-day diary recording compliance/adherence of patients to their prescribed amount of protein substitute. | Every 12 weeks from baseline during preconception (max. 2 years) and pregnancy until the end of the pregnancy | |
| Primary | Participants' gastrointestinal adverse events | Participant to report any gastrointestinal (GI) symptoms and pregnancy-associated nausea and vomiting while consuming PKU Sphere. | Throughout the study until one month postpartum | |
| Primary | Change in weight | Weight (kg) | Baseline, every 24 weeks during preconception (max. 2 years) and pregnancy, one month postpartum | |
| Primary | Change in plasma amino acid profile | Plasma amino acid profile | Baseline, all routine results during preconception (max. 2 years) and pregnancy, one month postpartum | |
| Primary | Change in plasma micronutrient profile | Plasma micronutrient profile | Baseline, all routine results during preconception (max. 2 years) and pregnancy, one month postpartum | |
| Primary | Pregnancy outcome | Standard of care data on the outcome of the pregnancy | End of pregnancy |