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The Effect of Arginine on Classic Galactosemia (ARGALT)

Primary Purpose

Classic Galactosemia

Status
Completed
Phase
Phase 2
Locations
Netherlands
Study Type
Interventional
Intervention
Arginine Aspartate
Sponsored by
Academisch Ziekenhuis Maastricht
About
Eligibility
Locations
Arms
Outcomes
Full info

About this trial

This is an interventional treatment trial for Classic Galactosemia

Eligibility Criteria

18 Years - undefined (Adult, Older Adult)All SexesDoes not accept healthy volunteers

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

Sites / Locations

  • Academisch Ziekenhuis Maastricht

Arms of the Study

Arm 1

Arm Type

Experimental

Arm Label

Asparten

Arm Description

Asparten (arginine aspartate) 5000mg/10mL 3x/day

Outcomes

Primary Outcome Measures

whole body galactose oxidative capacity
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.

Secondary Outcome Measures

Full Information

First Posted
June 5, 2018
Last Updated
September 26, 2018
Sponsor
Academisch Ziekenhuis Maastricht
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1. Study Identification

Unique Protocol Identification Number
NCT03580122
Brief Title
The Effect of Arginine on Classic Galactosemia
Acronym
ARGALT
Official Title
Does Arginine Enhance Galactose Oxidative Capacity in Classic Galactosemia: A Pilot Study
Study Type
Interventional

2. Study Status

Record Verification Date
September 2018
Overall Recruitment Status
Completed
Study Start Date
December 5, 2017 (Actual)
Primary Completion Date
January 12, 2018 (Actual)
Study Completion Date
September 5, 2018 (Actual)

3. Sponsor/Collaborators

Responsible Party, by Official Title
Principal Investigator
Name of the Sponsor
Academisch Ziekenhuis Maastricht

4. Oversight

Studies a U.S. FDA-regulated Drug Product
No
Studies a U.S. FDA-regulated Device Product
No
Data Monitoring Committee
Yes

5. Study Description

Brief Summary
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.

6. Conditions and Keywords

Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Classic Galactosemia

7. Study Design

Primary Purpose
Treatment
Study Phase
Phase 2
Interventional Study Model
Single Group Assignment
Masking
None (Open Label)
Allocation
N/A
Enrollment
4 (Actual)

8. Arms, Groups, and Interventions

Arm Title
Asparten
Arm Type
Experimental
Arm Description
Asparten (arginine aspartate) 5000mg/10mL 3x/day
Intervention Type
Drug
Intervention Name(s)
Arginine Aspartate
Intervention Description
Asparten
Primary Outcome Measure Information:
Title
whole body galactose oxidative capacity
Description
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.
Time Frame
6 hours

10. Eligibility

Sex
All
Minimum Age & Unit of Time
18 Years
Accepts Healthy Volunteers
No
Eligibility Criteria
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
Facility Information:
Facility Name
Academisch Ziekenhuis Maastricht
City
Maastricht
State/Province
Limburg
ZIP/Postal Code
6202 AZ
Country
Netherlands

12. IPD Sharing Statement

Citations:
PubMed Identifier
30477550
Citation
Haskovic M, Derks B, van der Ploeg L, Trommelen J, Nyakayiru J, van Loon LJC, Mackinnon S, Yue WW, Peake RWA, Zha L, Demirbas D, Qi W, Huang X, Berry GT, Achten J, Bierau J, Rubio-Gozalbo ME, Coelho AI. Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia. Orphanet J Rare Dis. 2018 Nov 26;13(1):212. doi: 10.1186/s13023-018-0954-8.
Results Reference
derived

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The Effect of Arginine on Classic Galactosemia

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