NCT03580122

Brief 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.

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
4

participants targeted

Target at below P25 for phase_2

Timeline
Completed

Started Dec 2017

Shorter than P25 for phase_2

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

December 5, 2017

Completed
1 month until next milestone

Primary Completion

Last participant's last visit for primary outcome

January 12, 2018

Completed
5 months until next milestone

First Submitted

Initial submission to the registry

June 5, 2018

Completed
1 month until next milestone

First Posted

Study publicly available on registry

July 9, 2018

Completed
2 months until next milestone

Study Completion

Last participant's last visit for all outcomes

September 5, 2018

Completed
Last Updated

September 27, 2018

Status Verified

September 1, 2018

Enrollment Period

1 month

First QC Date

June 5, 2018

Last Update Submit

September 26, 2018

Conditions

Classic Galactosemia

Outcome Measures

Primary Outcomes (1)

  • whole body galactose oxidative capacity

    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.

    6 hours

Study Arms (1)

Asparten

EXPERIMENTAL

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

Drug: Arginine Aspartate

Interventions

Arginine AspartateDRUG

Asparten

Asparten

Eligibility Criteria

Age18 Years+
Sexall
Healthy VolunteersNo
Age GroupsAdult (18-64), Older Adult (65+)

You may qualify if:

  • 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

You may not qualify if:

  • 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

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Academisch Ziekenhuis Maastricht

Maastricht, Limburg, 6202 AZ, Netherlands

Location

Related Publications (1)

  • 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: 30477550DERIVED

MeSH Terms

Conditions

Galactosemias

Interventions

arginine aspartate

Condition Hierarchy (Ancestors)

Brain Diseases, Metabolic, InbornBrain Diseases, MetabolicBrain DiseasesCentral Nervous System DiseasesNervous System DiseasesMetabolism, Inborn ErrorsGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesCarbohydrate Metabolism, Inborn ErrorsMetabolic DiseasesNutritional and Metabolic Diseases

Study Design

Study Type
interventional
Phase
phase 2
Allocation
NA
Masking
NONE
Purpose
TREATMENT
Intervention Model
SINGLE GROUP
Sponsor Type
OTHER
Responsible Party
PRINCIPAL INVESTIGATOR
PI Title
Coordinating Investigator

Study Record Dates

First Submitted

June 5, 2018

First Posted

July 9, 2018

Study Start

December 5, 2017

Primary Completion

January 12, 2018

Study Completion

September 5, 2018

Last Updated

September 27, 2018

Record last verified: 2018-09

Locations

NL(1)