NCT03580122

The Effect of Arginine on Classic Galactosemia

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

• Status: Completed
• Phase: Phase 2
• Study type: Interventional
• Enrollment: 4 (actual)
• Sponsor: Academisch Ziekenhuis Maastricht · Academic / Other
• Sex: All
• Age: 18 Years
• Healthy volunteers: Not accepted

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.

Conditions

• Classic Galactosemia

Interventions

Type	Name	Description
DRUG	Arginine Aspartate	Asparten

Timeline

• Start date: 2017-12-05
• Primary completion: 2018-01-12
• Completion: 2018-09-05
• First posted: 2018-07-09
• Last updated: 2018-09-27

Locations

1 site across 1 country: Netherlands