PKU Low Calorie Drink Study

Evaluating the Compliance, Acceptability, Safety and Tolerance of a Lower Calorie Protein Substitute for the Dietary Management of Phenylketonuria in Children and Adults - a Pilot Study

This study will evaluate the compliance, acceptability, gastrointestinal (GI) tolerance and safety of a lower calorie amino acid based liquid protein substitute for patients with Phenylketonuria (PKU) or hyperphenylalaninemia (HPA).

Study Overview

• Status: Withdrawn
• Conditions: Phenylketonurias; Hyperphenylalaninaemia
• Intervention / Treatment: Dietary supplement: Low calorie protein substitute

• Study Type: Interventional
• Phase: Not Applicable

Contacts and Locations

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 3 years and older (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: No

Description

Inclusion Criteria:

• Male or female
• 3 years of age or above
• Diagnosed with classical or variant type phenylketonuria (PKU), or hyperphenylalaninemia (HPA)
• Have been compliant in taking at least one amino acid-based, Phe-free protein substitute, providing at least 20g protein equivalent daily, for at least 1 month prior to study commencement
• Have a prescribed daily Phe allowance
• Written informed consent from patient, or from parent / carer if applicable

Exclusion Criteria:

• Pregnant or lactating
• Requiring enteral tube or parenteral nutrition
• Major hepatic or renal dysfunction
• Participation in other studies within 1 month prior to entry to this study
• Allergy to any of the study product ingredients
• Investigator concern around the patient being underweight (e.g.: BMI lower than 18.5kg/m2 for adults) and/or having an eating disorder
• Investigator concern around willingness/ability of patient or parent/carer to comply with protocol requirements

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Supportive Care
• Allocation: N/A
• Interventional Model: Single Group Assignment
• Masking: None (Open Label)

Number of Arms

1

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Experimental: Low calorie protein substitute; Single arm designed, 3 day baseline, 28 day on the lower calorie amino acid based liquid protein substitute.	Dietary supplement: Low calorie protein substitute; The evaluated dietary supplement is a lower calorie amino acid based liquid protein substitute designed for patients with PKU.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Compliance	Questionnaire on amounts offered and amounts actually consumed, compared to recommended amount. Amounts (values) are recorded	Daily for 31 days

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Acceptability: Tick-box questionnaire	Tick-box questionnaire on overall liking and acceptability of product (ie dislike a lot, dislike moderately, neutral, like moderately, like a lot)	Recorded at baseline and end of intervetnion (day 31)
Blood phenylalanine and other amino acid levels	Blood spot test.	Recorded at baselien and end of intervention (day 31)
Gastro-intestinal tolerance	Questionnaire detailing any GI symptoms, severity (none, mild, moderate, severe) and change from usual.	recorded at baseline, beginning of intervention and end of intervention(12 out of 31 days in total)
Nutrient intake	24h dietary recall.	Recorded at basleine and end of intervention (day 31)
Anthropometry	Measurements of height (m) and weight (kg) at baseline and end of study.	Recorded at baseline and end of intervention (day 31)

Collaborators and Investigators

• Sponsor: Nutricia UK Ltd

Study record dates

Study Major Dates

• Study Start (Actual): December 1, 2023
• Primary Completion (Actual): December 31, 2023
• Study Completion (Actual): December 31, 2023

Study Registration Dates

• First Submitted: August 29, 2018
• First Submitted That Met QC Criteria: February 14, 2020
• First Posted (Actual): February 17, 2020

Study Record Updates

• Last Update Posted (Actual): March 25, 2025
• Last Update Submitted That Met QC Criteria: February 24, 2025
• Last Verified: February 1, 2025

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Metabolic Diseases; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Amino Acid Metabolism, Inborn Errors; Phenylketonurias
• Other Study ID Numbers: PKULite2018

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No