The Effect of Arginine on Classic Galactosemia

NCT03580122 — Phase 2, Completed, 4 participants, Academisch Ziekenhuis Maastricht

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

Registry	NCT03580122, acronym ARGALT
Status	Completed
Phase	Phase 2
Study type	Interventional; na, single group, masking: none, treatment
Enrollment	4 (Actual)
Sponsor	Academisch Ziekenhuis Maastricht (Other)
Conditions	Classic Galactosemia
Interventions	Arginine Aspartate (Drug)
Dates	start 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 in Netherlands

-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.

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+Arms and interventions

Arm	Type	Interventions	Description
Asparten	Experimental	Drug: Arginine Aspartate	Asparten (arginine aspartate) 5000mg/10mL 3x/day

Arginine Aspartate (Drug): Asparten

+Outcome measures

Primary outcomes

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.

+Eligibility

Sex: All, ages: 18 Years to any

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

+Locations (1)

Facility	City	Country	Status
Academisch Ziekenhuis Maastricht	Maastricht, Limburg	Netherlands

+Publications

Results publication: Haskovic M, Derks B, van der Ploeg L, Trommelen J, Nyakayiru J, van Loon LJC, Mackinnon S, Yue WW, Peake RWA, Zha L, Demirbas D, Qi W, Huang X, Berry GT, Achten J, Bierau J, Rubio-Gozalbo ME, Coelho AI. Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia. Orphanet J Rare Dis. 2018 Nov 26;13(1):212. doi: 10.1186/s13023-018-0954-8. PMID 30477550