Classic GalactosemiaPhase 2ARGALTNCT03580122
The Effect of Arginine on Classic Galactosemia
A Phase 2 study testing Arginine Aspartate in people with Classic Galactosemia, run by Academisch Ziekenhuis Maastricht at 1 site in Netherlands.
Trial 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… Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Classic Galactosemia
- What is being tested?
- Arginine Aspartate
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 4 participants
- Where
- 1 siteNetherlands
- Study dates
- 5 Dec 2017to 5 Sep 2018
- Phase
- Phase 2
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Who may be able to join
- 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
Who cannot join
- 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
Trial locations and contacts
1 site in 1 country.
Netherlands1 site
Academisch Ziekenhuis Maastricht
Maastricht, Limburg, 6202 AZ
About this study
Official title: Does Arginine Enhance Galactose Oxidative Capacity in Classic Galactosemia: A Pilot Study
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.
Read more
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.
- Conditions
- Classic Galactosemia
- Being tested
- Arginine Aspartate
- Medical subject headings
- Galactosemias
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Arginine AspartateDrug
Asparten
| Study group | Role | What they receive |
|---|---|---|
| Asparten | Experimental | Asparten (arginine aspartate) 5000mg/10mL 3x/day Receives: Drug: Arginine Aspartate |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 6 hours
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted9 Jul 2018
- Study start5 Dec 2017
- Primary completion12 Jan 2018
- Study completion5 Sep 2018
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Classic GalactosemiaStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase 2
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 4 participants (actual)
Sponsor and investigators
- Lead sponsor
- Academisch Ziekenhuis Maastricht
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Ana Coelho, Academisch Ziekenhuis Maastricht
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03580122
- Sponsor's protocol ID
- NL49929.068.17
- Acronym
- ARGALT
- Status last verified
- Sep 2018
- First submitted
- 5 Jun 2018
- Last updated
- 27 Sep 2018
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
Publications
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.
PubMed 30477550
Study at a glance
From the registry record, last updated by the sponsor on 27 Sep 2018. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Does Arginine Enhance Galactose Oxidative Capacity in Classic Galactosemia: A Pilot Study
- ClinicalTrials.gov ID
- NCT03580122
- Acronym / sponsor ID
- ARGALT / NL49929.068.17
- Conditions
- Classic Galactosemia
- Phase
- Phase 2
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 4 participants (actual)
- Lead sponsor
- Academisch Ziekenhuis MaastrichtUniversity, hospital or other
- Study start
- 5 Dec 2017 (actual)
- Primary completion
- 12 Jan 2018 (actual)
- Study completion
- 5 Sep 2018 (actual)
- First posted
- 9 Jul 2018 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Asparten | Experimental | Drug: Arginine AspartateAsparten (arginine aspartate) 5000mg/10mL 3x/day |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (3 listed)
- 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
Key exclusion criteria (4 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Arginine AspartateAsparten | Drug | Asparten |
Primary outcome
whole body galactose oxidative capacity
Time frame: 6 hours
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.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 27 Sep 2018.
- Derived from this study: PubMed 30477550Haskovic 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.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 2 study testing Arginine Aspartate in people with Classic Galactosemia, run by Academisch Ziekenhuis Maastricht at 1 site in Netherlands.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 4 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 27 Sep 2018. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Netherlands. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
What does this phase mean?
Phase 2 studies give the treatment to a larger group to see whether it has the intended effect and to keep checking safety.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
whole body galactose oxidative capacity (time frame: 6 hours). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT03580122, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 27 Sep 2018.