The Effect of Arginine on Classic Galactosemia

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Clinical Phase

PHASE2

Total Enrollment

4 participants

Study Classification

INTERVENTIONAL

Study Start Date

2017-12-05

Study Completion Date

2018-09-05

Brief Summary

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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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Detailed Description

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Conditions

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Classic Galactosemia

Study Design

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Allocation Method

NA

Intervention Model

SINGLE_GROUP

Primary Study Purpose

TREATMENT

Blinding Strategy

NONE

Study Groups

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Asparten

Asparten (arginine aspartate) 5000mg/10mL 3x/day

Group Type EXPERIMENTAL

Arginine Aspartate

Intervention Type DRUG

Asparten

Interventions

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Arginine Aspartate

Asparten

Intervention Type DRUG

Eligibility Criteria

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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

Minimum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No