Arginine as medication to improve outcome in patients with galactosemia

DOES ARGININE ENHANCE GALACTOSE OXIDATIVE CAPACITY IN CLASSIC GALACTOSEMIA? A PILOT STUDY

Status

Active, not recruiting

Phases

Phase 2

Study type

Interventional

Source

EU CTR

Registry ID

EUCTR2014-002674-36-NL

Enrollment

Registered

2017-09-13

Start date

2017-10-12

Completion date

Unknown

Last updated

2019-02-28

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Classic galactosemia

Interventions

Trade Name: Asparten 5g Product Name: Asparten 5g Pharmaceutical Form: Oral solution

Eligibility

Sex/Gender

All

Inclusion criteria

Inclusion criteria: 1. Classic galactosemia patient homozygous for the p.Q188R mutation, diagnosed by GALT enzyme activity assay and GALT gene mutation analysis 2. Eighteen years of age or older 3. Capable of giving informed consent Are the trial subjects under 18? no Number of subjects for this age range: F.1.2 Adults (18-64 years) yes F.1.2.1 Number of subjects for this age range 5 F.1.3 Elderly (>=65 years) no F.1.3.1 Number of subjects for this age range

Exclusion criteria

Exclusion criteria: A potential subject who meets any of the following criteria will be excluded from participation in this study: 1. Urea cycle disorders (assessed by post prandial amino acid profile in blood) 2. Increased level of plasma uric acid 3. Patients experiencing acute illness of classic galactosemia 4. Pregnant women (or considering getting pregnant) or breastfeeding women

Design outcomes

Primary

Measure	Time frame
Secondary Objective: : To evaluate the possible effect of arginine on erythrocyte GALT enzyme activity, serum IgG N-glycans ratios, and galactose metabolites levels (galactose, Gal-1-P and galactitol).; Primary end point(s): Galactose oxidative capacity ;Timepoint(s) of evaluation of this end point: 1 month after start of trial;Main Objective: To evaluate the possible effect of arginine on the whole body galactose oxidative capacity in classic galactosemia patients (homozygous for the p.Q188R mutation).	—

Measure

Time frame

Secondary Objective: : To evaluate the possible effect of arginine on erythrocyte GALT enzyme activity, serum IgG N-glycans ratios, and galactose metabolites levels (galactose, Gal-1-P and galactitol).; Primary end point(s): Galactose oxidative capacity ;Timepoint(s) of evaluation of this end point: 1 month after start of trial;Main Objective: To evaluate the possible effect of arginine on the whole body galactose oxidative capacity in classic galactosemia patients (homozygous for the p.Q188R mutation).

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Secondary

Measure	Time frame
Secondary end point(s): Erythrocyte GALT activity Serum IgG N-glycans ratios Erythrocyte Gal-1-P levels Blood and urinary galactose levels Blood and urinary galactitol levels Hematocrit EEG study Diet evaluation (arginine content) ;Timepoint(s) of evaluation of this end point: 1 month after start of trial	—

Countries

Netherlands

Outcome results

None listed

Source: EU CTR (via WHO ICTRP) · Data processed: Feb 4, 2026