Arginine as medication to improve outcome in patients with galactosemia

Phase 1

• Conditions: Classic galactosemia; Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]

• Registration Number: EUCTR2014-002674-36-NL

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Results First Posted: 1900-01-01
• Study Start: 2017-09-13
• Last Update Posted: 28 February 2019

Recruitment & Eligibility

• Status: ot Recruiting
• Sex: Not specified
• Target Recruitment: 5

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

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

Study & Design

• Study Type: Interventional clinical trial of medicinal product
• Study Design: Not specified