Liquid Valine and Isoleucine in Maple Syrup Urine Disease

NCT06581991 | Not Yet Recruiting DMC

• 1 other identifier: LVMSUD2022(2)
• Study Type: interventional
• Target: 5
• Locations: 0 countries
• Sites: N/A

Brief Summary

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.

Conditions

Maple Syrup Urine Disease

Keywords

Maple Syrup Urine Disease; MSUD; Valine; Isoleucine

Outcome Measures

Primary Outcomes (5)

• Daily data on gastrointestinal tolerance

  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

  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

  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

  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

  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 Outcomes (1)

• Weight and height measurement

  From enrollment to the end of treatment at 56 days

Study Arms (1)

Liquid valine and liquid isoleucine administration

EXPERIMENTAL

Liquid valine given for 28 days, liquid isoleucine for 28 days

Dietary Supplement: Valine oral solution (50mg/ml) and isoleucine oral solution (25mg/ml)

Interventions

Valine oral solution (50mg/ml) and isoleucine oral solution (25mg/ml) DIETARY_SUPPLEMENT

Subjects will take valine oral solution (50mg/ml) in place of usual powdered valine supplement for 28 days. Subjects will then take isoleucine oral solution (25mg/ml) in place of their usual powdered isoleucine supplement for 28 days.

Liquid valine and liquid isoleucine administration

Eligibility Criteria

• Age: 12 Months - 16 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)

You may qualify if:

• 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

You may not qualify if:

• 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.

Sponsors & Collaborators

• Meta Healthcare Ltd: lead
• Birmingham Women's and Children's NHS Foundation Trust: collaborator

MeSH Terms

Conditions

Maple Syrup Urine Disease

Interventions

Valine; Isoleucine

Condition Hierarchy (Ancestors)

Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System 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

Intervention Hierarchy (Ancestors)

Amino Acids, Branched-Chain; Amino Acids; Amino Acids, Peptides, and Proteins; Amino Acids, Essential

Study Officials

• Anita MacDonald

  Birmingham Children&#39;s Hospital, UK

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Anita MacDonald

CONTACT

+44 1213338024; anita.macdonald@nhs.net

Sharon Evans

CONTACT

+44 1213338024; sharon.morris6@nhs.net

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Model Details: Prospective, open label, observational study of 5 subjects with MSUD for 56 days

Study Record Dates

• First Submitted: August 13, 2024
• First Posted: September 3, 2024
• Study Start: October 1, 2024
• Primary Completion (Estimated): September 1, 2026
• Study Completion (Estimated): September 1, 2026
• Last Updated: September 3, 2024

Record last verified: 2024-08

Data Sharing

• IPD Sharing: Will not share