Classic Galactosemia
Conditions
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.
Interventions
DRUGArginine Aspartate
Asparten
Sponsors
Academisch Ziekenhuis Maastricht
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
TREATMENT
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| 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. |
Countries
Netherlands
Outcome results
None listed