The Effect of Arginine on Classic Galactosemia (ARGALT)

September 26, 2018 updated by: Ana Coelho, Academisch Ziekenhuis Maastricht

Does Arginine Enhance Galactose Oxidative Capacity in Classic Galactosemia: A Pilot Study

Rationale: Classic galactosemia is a rare inherited metabolic disease that presents in neonatal patients with a life-threatening multi-organ toxic syndrome. Although the current standard of care - a galactose-restricted diet - quickly relieves the severe neonatal clinical picture, it fails to prevent brain and gonadal sequelae. There is a need for new therapeutic strategies.

As arginine is an amino acid that is therapeutically widely used with no side effects described, we propose to use it in a pilot-clinical study. We aim to evaluate the effects of arginine in classic galactosemia patients, in order to determine its potential therapeutic role in this disease.

Objective: To evaluate the possible effect of arginine on the whole body galactose oxidative capacity in classic galactosemia patients.

Study design: Interventional pilot-clinical study with pre-post single arm design.

Study population: We aim to include 5 classic galactosemia adult patients homozygous for the p.Q188R mutation.

Intervention: All participants will receive arginine in the form of Asparten ® (arginine aspartate) during 1 month, by oral administration.

The main study parameter is whole body galactose galactose oxidative capacity.

Study Overview

Status

Completed

Conditions

Intervention / Treatment

Study Type

Interventional

Enrollment (Actual)

4

Phase

  • Phase 2

Contacts and Locations

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

Study Locations

  • Netherlands
    • Limburg
      • Maastricht, Limburg, Netherlands, 6202 AZ
        • Academisch Ziekenhuis Maastricht

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

18 years and older (Adult, Older Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Description

Inclusion Criteria:

  • Classic galactosemia patient homozygous for the p.Q188R mutation, diagnosed by GALT enzyme activity assay and GALT gene mutation analysis
  • Eighteen years of age or older
  • Capable of giving informed consent

Exclusion Criteria:

  • Urea cycle disorders (assessed by post prandial amino acid profile in blood)
  • Increased level of plasma uric acid
  • Patients experiencing acute illness of classic galactosemia
  • Pregnant women (or considering getting pregnant) or breastfeeding women

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)

Arms and Interventions

Participant Group / Arm
Intervention / Treatment
Experimental: Asparten
Asparten (arginine aspartate) 5000mg/10mL 3x/day
Drug: Arginine Aspartate
Asparten

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
whole body galactose oxidative capacity
Time Frame: 6 hours
Whole body galactose oxidative capacity is breathing test that quantifies [1-13C]-galactose conversion into 13CO2, thus allowing to delineate the exact extent of impaired galactose metabolism, providing clear information on a patient's ability to oxidize galactose.
6 hours

Collaborators and Investigators

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

Sponsor

Academisch Ziekenhuis Maastricht

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

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 (Actual)

December 5, 2017

Primary Completion (Actual)

January 12, 2018

Study Completion (Actual)

September 5, 2018

Study Registration Dates

First Submitted

June 5, 2018

First Submitted That Met QC Criteria

July 6, 2018

First Posted (Actual)

July 9, 2018

Study Record Updates

Last Update Posted (Actual)

September 27, 2018

Last Update Submitted That Met QC Criteria

September 26, 2018

Last Verified

September 1, 2018

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • NL49929.068.17

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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