The Effect of Arginine on Classic Galactosemia
- Registration Number
- NCT03580122
- Lead Sponsor
- 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.
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- COMPLETED
- Sex
- All
- Target Recruitment
- 4
- 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
- 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
Study & Design
- Study Type
- INTERVENTIONAL
- Study Design
- SINGLE_GROUP
- Arm && Interventions
Group Intervention Description Asparten Arginine Aspartate Asparten (arginine aspartate) 5000mg/10mL 3x/day
- Primary Outcome Measures
Name Time Method whole body galactose oxidative capacity 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.
- Secondary Outcome Measures
Name Time Method
Trial Locations
- Locations (1)
Academisch Ziekenhuis Maastricht
🇳🇱Maastricht, Limburg, Netherlands