Does arginine enhance galactose oxidative capacity in classic galactosemia? A pilot study

Does arginine enhance galactose oxidative capacity in classic galactosemia? A pilot study - The effect of arginine on classic galactosemia

Status

Active, not recruiting

Phases

Phase 2

Study type

Interventional

Source

NL-OMON

Registry ID

NL-OMON47197

Enrollment

Registered

2018-03-09

Start date

2017-12-05

Completion date

Unknown

Last updated

2024-02-28

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

Conditions

Galactose-1-Phosphate Uridylyltransferase deficiency galactosemia

Interventions

All participants will receive arginine in the form of arginine aspartate (Asparten ®) during 30 ± 5 days, by oral administration (3x/day).

- Arginine

- Classic galactosemia

- GALT deficiency

- Therapy

Eligibility

Age

18 Years to 64 Years

Inclusion criteria

Inclusion criteria: - Patient with classic galactosemia, 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

Exclusion criteria: - Urea cycle disorders (assessed by post prandial amino acid profile in blood) - Increased level of plasma uric acid

Design outcomes

Primary

Measure	Time frame
The main study parameter is galactose oxidative capacity before and after arginine supplementation.	—

Secondary

Measure	Time frame
Secondary outcome measures include erythrocyte GALT enzyme activity, galactose plasma levels, Gal-1-P plasma levels, and galactitol levels in urine.	—

Countries

The Netherlands

Outcome results

None listed

Source: NL-OMON (via WHO ICTRP)