Evaluation of PKU Sphere in Maternal PKU

NCT04224142 | Completed

• 3 other identifiers: MCT-GMP-2018-08-1425685719/NW/0167
• Study Type: observational
• Target: 12
• Locations: 1 country
• Sites: 3

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.

Conditions

Maternal Phenylketonuria

Keywords

Maternal; PKU; Phenylketonuria; GMP; Glycomacropeptide

Outcome Measures

Primary Outcomes (8)

• 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.

• 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.

• 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

• 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

• Change in weight

  Weight (kg)

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

• Change in plasma amino acid profile

  Plasma amino acid profile

  Baseline, all routine results during preconception (max. 2 years) and pregnancy, one month postpartum

• Change in plasma micronutrient profile

  Plasma micronutrient profile

  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

  End of pregnancy

Study Arms (1)

PKU sphere

PKU sphere (an FSMP) as per individual requirements determined by a dietitian.

Dietary Supplement: PKU sphere

Interventions

PKU sphere DIETARY_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.

PKU sphere

Eligibility Criteria

• Age: 16 Years+
• Sex: female
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Maternal and preconception females, aged 16 years onwards with phenylketonuria (PKU) requiring dietary management with protein substitutes.

You may qualify if:

• 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.

You may not qualify if:

• 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.

Sponsors & Collaborators

• Vitaflo International, Ltd: lead
• University College London Hospitals: collaborator

Study Sites (3)

Royal Victoria Hospital

Belfast, United Kingdom

Location

University Hospital of Wales

Cardiff, United Kingdom

Location

University College London Hospitals NHS Foundation Trust

London, United Kingdom

Location

MeSH Terms

Conditions

Phenylketonuria, Maternal; Phenylketonurias

Condition Hierarchy (Ancestors)

Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Pregnancy Complications; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Amino Acid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Charlotte Ellerton

  University College London Hospitals

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: October 7, 2019
• First Posted: January 13, 2020
• Study Start: July 29, 2019
• Primary Completion: October 7, 2025
• Study Completion: October 7, 2025
• Last Updated: November 28, 2025

Record last verified: 2025-11

Data Sharing

• IPD Sharing: Will not share

Locations

GB (3)