Liquid Valine and Isoleucine in Maple Syrup Urine Disease

August 29, 2024 updated by: Meta Healthcare Ltd

Valine 50mg/ml and Isoleucine 25mg/ml Oral Solutions for Maple Syrup Urine Disease (MSUD) - Acceptability and Tolerance Study

This is a prospective, observational research study in 5 children with Maple Syrup Urine Disease (MSUD). Subjects who are currently taking a valine and isoleucine supplement for MSUD will be recruited for a 56 day trial, of a new ready-to-use valine supplement and a new ready-to-use isoleucine supplement, to evaluate the tolerability and acceptability of the study products compared with their usual products.

Study Overview

Status

Not yet recruiting

Conditions

Maple Syrup Urine Disease

Detailed Description

This is a prospective, observational 2-part research study in 5 children with Maple Syrup Urine Disease (MSUD). Subjects who are currently taking a valine and isoleucine supplement for MSUD will be recruited for a 56 day trial, of a new ready-to-use valine supplement (Part 1) and a ready-to-use isoleucine supplement (Part 2), to evaluate the tolerability and acceptability of the study products compared with their usual products.

When an appropriate subject has been identified, they and their parents/ caregivers will be sent a study information sheet via the post. They will be invited to request further information about the study if they wish by contacting the Dietitian. The Dietitian will explain the study in more detail either by telephone or via a face-to-face consultation in a convenient location/preferred venue for the participant and their parent/caregiver. Recruitment of each patient will be by written informed consent, which will be completed by the parents/primary caregivers and taken by the Dietitian. Children will also complete an assent/ consent form. Reimbursement will be offered for any travel expenses incurred for any visits to the hospital that are over and above normal/routine visits.

Subjects will replace their usual daily dose of powdered valine supplement with the equivalent amount of the liquid valine supplement for 28 days (Part 1). They will then return to their usual valine supplement and replace their usual powdered isoleucine supplement with the new liquid isoleucine supplement for a further 28 days (Part 2). The outcome of this assessment will be used in a submission to regulatory authorities to enable the study products to be reimbursable on prescription in the United Kingdom (UK). Subjects will be asked to take the new valine supplement for 28 days (Part 1), then the new isoleucine supplement for 28 days (Part 2). During this time, caregivers will be asked to complete a daily acceptability and tolerance questionnaire recording information on:

Usage and adherence
Ease of use and any issues with administration
Any gastro-intestinal side effects The questions should take a maximum of 10 minutes to complete each day. Additional questions will also be completed at the beginning and end of the study that will consider opinion on both usual valine and isoleucine, and study valine and isoleucine, with respect to taste, appearance, smell, presentation and packaging; ease of administration; how the valine is taken; and any other problems or symptoms.

Weight, height and 3 day dietary intake will also be recorded at the beginning and end of Part 1 and Part 2 of the study. A 3-day food diary will record food/drink intake at the beginning of the study whilst taking their usual supplements (Day -3, -2, -1), for 3 days at the end of Part 1 of the study whilst taking the new valine supplement (Days 26, 27, 28), and for 3 days at the end of Part 2 of the study whilst taking the new isoleucine supplement (Days 54, 55, 56).

Meta healthcare will supply the valine oral solution (50mg/ml) and isoleucine oral solution (25mg/ml) for participants free of charge.

During the 56 day trial, weekly routine blood samples will be posted and analysed for valine, leucine and isoleucine as is usual clinical practice. At recruitment, the previous 4 blood results for valine, leucine and isoleucine will be recorded for comparison.

Study Type

Interventional

Enrollment (Estimated)

Phase

Not Applicable

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Name: Anita MacDonald
Phone Number: +44 1213338024
Email: anita.macdonald@nhs.net

Study Contact Backup

Name: Sharon Evans
Phone Number: +44 1213338024
Email: sharon.morris6@nhs.net

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

Child

Accepts Healthy Volunteers

Description

Inclusion Criteria:

Male and female MSUD patients ≥1 year and <16 years of age.
Patients diagnosed with MSUD.
Taking both valine and isoleucine supplements for MSUD and willing to take the new supplements for 56 days.
Absence of comorbidities.
Adherence with dietary management and valine and isoleucine supplements.
Able to understand and comply with the requirements of the investigation and sign the Informed Consent Form/Assent form

Exclusion Criteria:

Age <1 year old and >16 years old.
Patients with comorbidities.
Any moderate to severe acute illness which in the opinion of the Investigator would interfere with the study procedures or study outcome.
History of poor co-operation, non-adherence with dietary management, or poor adherence to investigation procedures.
Participation in any other studies involving investigational or marketed products concomitantly or within two weeks prior to entry into the study.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

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

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Daily data on gastrointestinal tolerance Time Frame: From enrollment to end of treatment at 56 days	A daily record of any gastrointestinal symptoms compared with usual valine and isoleucine supplement	From enrollment to end of treatment at 56 days
Acceptability and tolerance Time Frame: From enrolment to end of treatment at 56	Qualitative questionnaires at study start and end of Part 1 (28 days) and Part 2 (56 dys) of the study	From enrolment to end of treatment at 56
Daily data on study product adherence Time Frame: From enrollment to the end of treatment at 56 days	A daily record of study product intake (actual versus prescribed) to check for adherence	From enrollment to the end of treatment at 56 days
3-day food diaries Time Frame: From enrollment to the end of treatment at 56 days	A record of patient food and fluid intake for 3 days to monitor valine intake from food - at enrollment, end of part 1 and end of part 2	From enrollment to the end of treatment at 56 days
Blood results for valine, leucine, isoleucine Time Frame: From enrollment to end of treatment at 56 days	Routine weekly blood sample taken at home for valine, leucine and isoleucine and posted to the hospital. These will be compared with blood results prior to study commencement to check for any changes	From enrollment to end of treatment at 56 days

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Weight and height measurement Time Frame: From enrollment to the end of treatment at 56 days	Weight and height will be measured at enrollment, end of Part 1 (28 days) and end of Part 2 (56 days) of the study to check that growth is adequate	From enrollment to the end of treatment at 56 days

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Meta Healthcare Ltd

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Estimated)

October 1, 2024

Primary Completion (Estimated)

September 1, 2026

Study Completion (Estimated)

September 1, 2026

Study Registration Dates

First Submitted

August 13, 2024

First Submitted That Met QC Criteria

August 29, 2024

First Posted (Actual)

September 3, 2024

Study Record Updates

Last Update Posted (Actual)