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Completed

NCT Number: NCT03580122

The Effect of Arginine on Classic Galactosemia

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.

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Key information

Conditions

Classic Galactosemia Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Carbohydrate Metabolism, Inborn Errors Central Nervous System Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Galactosemias Genetic Diseases, Inborn Metabolic Diseases Metabolism, Inborn Errors Nervous System Diseases Nutritional and Metabolic Diseases

Age range

18 year and older

Sex eligibility

All sexes

Study type

Interventional

Phase

Phase 2

Primary location

Academisch Ziekenhuis Maastricht

Maastricht, Limburg, 6202 AZ, Netherlands

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Arginine Aspartate

Drug

Asparten

Primary outcomes

  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.

Sponsors and collaborators

Lead sponsor

Academisch Ziekenhuis Maastricht

Other

Registry information

Official study title

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

Acronym: ARGALT

Important dates

Study start
2017
Primary completion
2018
Study completion
2018
First posted
Jul 9, 2018
Registry last updated
Sep 27, 2018

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

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This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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