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The Effect of Arginine on Classic Galactosemia (ARGALT)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT03580122
Recruitment Status : Completed
First Posted : July 9, 2018
Last Update Posted : September 27, 2018
Information provided by (Responsible Party):
Ana Coelho, Academisch Ziekenhuis Maastricht

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.

Condition or disease Intervention/treatment Phase
Classic Galactosemia Drug: Arginine Aspartate Phase 2

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Study Type : Interventional  (Clinical Trial)
Actual Enrollment : 4 participants
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Treatment
Official Title: Does Arginine Enhance Galactose Oxidative Capacity in Classic Galactosemia: A Pilot Study
Actual Study Start Date : December 5, 2017
Actual Primary Completion Date : January 12, 2018
Actual Study Completion Date : September 5, 2018

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

Primary Outcome Measures :
  1. 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.

Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT03580122

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Academisch Ziekenhuis Maastricht
Maastricht, Limburg, Netherlands, 6202 AZ
Sponsors and Collaborators
Academisch Ziekenhuis Maastricht

Publications automatically indexed to this study by Identifier (NCT Number):
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Responsible Party: Ana Coelho, Coordinating Investigator, Academisch Ziekenhuis Maastricht Identifier: NCT03580122     History of Changes
Other Study ID Numbers: NL49929.068.17
First Posted: July 9, 2018    Key Record Dates
Last Update Posted: September 27, 2018
Last Verified: September 2018

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Carbohydrate Metabolism, Inborn Errors
Metabolic Diseases
Excitatory Amino Acid Agonists
Excitatory Amino Acid Agents
Neurotransmitter Agents
Molecular Mechanisms of Pharmacological Action
Physiological Effects of Drugs