Acceptability and Tolerance of a Ready-to-use Protein Substitute in Tablet Form for the Dietary Management of Phenylketonuria

XPhe Minis - Acceptability and Tolerance Market Research

The purpose of this prospective, observational study is to evaluate the tolerability and acceptability of phenylalanine-free protein substitute tablets for young children with PKU aged of 7 years or older.

Study Overview

• Status: Completed
• Conditions: Phenylketonurias; Hyperphenylalaninaemia; Tetrahydrobiopterin Deficiency
• Intervention / Treatment: Dietary supplement: Phenylalanine-free protein substitute in tablet form (XPhe minis)

Detailed Description

The principle treatment for children with phenylketonuria (PKU) is a low protein diet. Part of this treatment requires the administration of a phenylalanine-free protein substitute in order to meet basic protein requirements for normal growth and development. Several brands of phenylalanine-free protein substitutes are already available in various forms - liquid, semi solid, tablet. However, compliance with taking protein substitutes continues to be a challenge. As a low protein diet is recommended for life, long term compliance is a growing concern. As a result, improving the choice in terms of product type may aid compliance. XPhe minis are phenylalanine-free protein substitute tablets enriched with vitamins, minerals and trace elements designed for children and adults with PKU. It is anticipated that they will be a suitable alternative choice for PKU patients, broadening the variety of protein substitutes they can choose from in order to suit their lifestyle and preferences.

This is a prospective, observational tolerance study in 10 children with PKU. Subjects who are currently taking a second stage protein substitute will be recruited for a 7-day trial, taking the ready-to-use protein substitute tablets to evaluate the tolerability and acceptability of the study product. Therefore, subjects will replace some or all of their usual protein substitute with the new product.

During the 7-days trial subjects or caregivers will be asked to complete a daily questionnaire recording information on: • Usage and compliance • Ease of use and any issues with administration • Any gastro-intestinal side-effects.

A questionnaire will also be completed at the beginning and end of the study that will consider perceptions about taste, appearance, smell, ease of administration; how it is taken; and any other problems or symptoms.

The amount of tablets prescribed will be calculated to provide the same amount of protein as their usual protein substitute.

Subjects will continue to have weekly finger-prick blood tests as is routine in PKU. The results whilst on the study product will be compared with results whilst on their usual protein substitute.

10 children with PKU will be recruited. When an appropriate subject has been identified, a study information sheet will be sent to the subject or parents/caregivers. They will be invited to request further information about the study if they wish by contacting the Lead Dietitian. Recruitment of each patient will be by written informed consent, which will be completed by the parents/primary caregivers and taken by the Lead Dietitian. Children will also complete an assent/consent form and will receive an information sheet, if considered appropriate for their level of understanding.

• Study Type: Observational
• Enrollment (Actual): 10

Contacts and Locations

• Study Contact: Name: Bernhard Hoffmann, PhD; Phone Number: +49 6031 166 72 71; Email: behoffmann@meta.org
• Study Contact Backup: Name: Yvonne Muecke, PhD; Phone Number: +49 6031 166 72 79; Email: yvonne.muecke@metax.org

Study Locations

• United Kingdom
  • Wales
    • Birmingham, Wales, United Kingdom, B4 6NH
      • Birmingham Children´s Hospital

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 5 years to 16 years (Child, Adult)
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

10 children with PKU

Description

Inclusion Criteria:

• Diagnosis of PKU or PKU variant requiring a phenylalanine-free protein substitute.
• Subjects who are already taking a phenylalanine-free protein substitute and are willing to try the study product for 7 days.
• Children aged 7 years and over.
• Written informed consent obtained from parental caregiver.

Exclusion Criteria:

• Presence of serious concurrent illness
• Lead Dietitian's uncertainty about the willingness or ability of the patient to comply with the protocol requirements
• Participation in any other studies involving investigational or marketed products concomitantly or within two weeks prior to entry into the study.
• Any children having taken antibiotics over the previous 2 weeks leading up to the study.
• Children less than 7 years of age.

Study Plan

How is the study designed?

Design Details

• Observational Models: Case-Only
• Time Perspectives: Prospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Daily compliance	Compliance, with currently prescribed protein substitute will be assessed at the beginning of the 7-days trial. Usage and compliance with the study product will subsequently assessed daily from days 1-7 using standardised questionnaires, where patients document the amount of consumed study product vs the prescribed doses. Compliance	7 days

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Treatment-Emergent tolerability	Gastro-intestinal side effects (including diarrhoea, constipation, bloating or abdominal distension, nausea, vomiting, burping, flatulence or regurgitation and abdominal discomfort or pain) will be assessed daily via questionnaire using the scale (none today, mild, moderate or severe / really troublesome).	7 days
Patient Acceptability	Acceptability (ease of use and palatability) will be assessed via questionnaire daily during the study period and at the end of the study via questionnaire .	7 days
Metabolic control	Weekly routine finger prick blood spots will be collected and analysed for phenylalanine (micromole per Liter) and tyrosine (micromole per Liter) as is usual clinical practice.	2 days
Incidence of study product emergent events.	All adverse events will be recorded throughout the study (as and when they occur) and after study completion, an average of 1 year. As the study product is already commercially available occurence of any adverse event is unlikely.	Through study completion an average of 1year

Collaborators and Investigators

• Sponsor: metaX Institut fuer Diatetik GmbH
• Collaborators: Birmingham Children's Hospital
• Investigators: Principal Investigator: Anita MacDonald, Professor, Birmingham Children´s Hospital

Study record dates

Study Major Dates

• Study Start (Actual): February 1, 2021
• Primary Completion (Actual): May 1, 2021
• Study Completion (Actual): May 10, 2021

Study Registration Dates

• First Submitted: April 21, 2020
• First Submitted That Met QC Criteria: May 4, 2020
• First Posted (Actual): May 5, 2020

Study Record Updates

• Last Update Posted (Estimated): March 4, 2024
• Last Update Submitted That Met QC Criteria: March 1, 2024
• Last Verified: March 1, 2024

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Metabolic Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Metabolism, Inborn Errors; Brain Diseases, Metabolic; Brain Diseases, Metabolic, Inborn; Amino Acid Metabolism, Inborn Errors; Phenylketonurias
• Other Study ID Numbers: XPheminisCT01

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO
• IPD Plan Description: No individual patient data will be shared with other researchers.

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No