The Effect of Arginine on Classic Galactosemia

Classic Galactosemia Clinical Trial

— ARGALT  

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT03580122
• Other study ID #: NL49929.068.17
• Status: Completed
• Phase: Phase 2
• Start date: December 5, 2017
• Est. completion date: September 5, 2018

Study information

• Verified date: September 2018
• Source: Academisch Ziekenhuis Maastricht
• Contact: n/a
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial 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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 4
• Est. completion date: September 5, 2018
• Est. primary completion date: January 12, 2018
• Accepts healthy volunteers: No
• Gender: All
• Age group: 18 Years and older

Eligibility

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

Related Conditions & MeSH terms

• Classic Galactosemia
• Galactosemias

Intervention

Drug:
• Arginine Aspartate
Asparten

Locations

Country	Name	City	State
Netherlands	Academisch Ziekenhuis Maastricht	Maastricht	Limburg

Sponsors (1)

Lead Sponsor	Collaborator
Academisch Ziekenhuis Maastricht

Country where clinical trial is conducted

Netherlands, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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.	6 hours