Overview

The Effect of Arginine on Classic Galactosemia

Status:
Completed
Trial end date:
2018-09-05
Target enrollment:
0
Participant gender:
All
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.
Phase:
Phase 2
Accepts Healthy Volunteers?
No
Details
Lead Sponsor:
Academisch Ziekenhuis Maastricht
Treatments:
N-Methylaspartate
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