Glycogen Storage Disease Type IAPhase 1/2ENGLUPRO GSDIaNCT04311307
Endogenous Glucose Production in Patients With Glycogen Storage Disease Type Ia
A Phase 1/2 study testing [6,6-2H2]glucose in people with Glycogen Storage Disease Type IA, run by University Medical Center Groningen at 1 site in Netherlands.
Trial summary
Glycogen storage disease type Ia (GSDIa) subjects retain a limited capacity for endogenous glucose production (EGP). To date, the origin of residual EGP in GSDIa patients is unknown. Either increased glycogen debranching or lysosomal glycogen breakdown can account for residual EGP in GSDIa. Read more about this study
- Who is it for?
- Ages 16 years and olderHealthy volunteers can take part
- Conditions the study is for
- Glycogen Storage Disease Type IA
- What is being tested?
- [6,6-2H2]glucose
- Type of treatment
- Pill or oral medicine
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 20 participants
- Where
- 1 siteNetherlands
- Study dates
- 19 Jan 2021to 7 Feb 2022
- Phase
- Phase 1/2
- 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 16 years and older
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Who may be able to join
- The diagnosis should be confirmed by G6PC mutation analysis
- Age above 16 years
- Stable medical condition before the start of the test procedures
Who cannot join
- Age < 16 years
- Intercurrent illness
- Recent history of hospitalization due to hypoglycemia
- Pregnancy
- History suggestive of diabetes or fasting intolerance
- First grade family member with a confirmed diagnosis associated with fasting intolerance
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Endogenous Glucose Production in Subjects With Glycogen Storage Disease Type Ia Estimated by a Single Oral Dose of Stable Isotopes: an Investigator-initiated Human Pilot Study
Glycogen storage disease type Ia (GSDIa) subjects retain a limited capacity for endogenous glucose production (EGP). To date, the origin of residual EGP in GSDIa patients is unknown. Either increased glycogen debranching or lysosomal glycogen breakdown can account for residual EGP in GSDIa.
Innovative treatments for GSDIa (e.g. AAV8-mediated gene therapy and mRNA therapy) are being developed.Therefore, longitudinal minimally-invasive monitoring of outcomes after therapeutic interventions in GSD Ia subjects becomes warranted.
The primary objective is to test the feasibility of EGP quantification in adult GSDIa subjects by stable isotopes after a single oral [6,6-2H2]glucose dose. Secondary objectives are to compare EGP assessed by a single oral [6,6-2H2]glucose dose (a) in GSDIa patients versus matched healthy participants, (b) among GSDIa patients, (c) in the pre-prandial state versus the fed state, (d) in the controlled hospital setting versus the home setting. Data collected from the continuous glucose monitoring data will also be compared
Read the detailed description
Study design: An investigator-initiated human pilot-study. Study population: Ten adult subjects with GSDIa and ten age and gender-matched healthy subjects.
Interventions: Three experiments will be performed for each subject. During the first in hospital experiment, two oral D-[6,6-2H2]glucose loads will be performed 2 hours before breakfast and at lunchtime, respectively. The third oral D-[6,6-2H2]glucose load will be performed at home (random time). Capillary blood samples will be collected on filter paper at specific time points after each oral D-[6,6-2H2]glucose load. During the experiments, subjects will be monitored by subcutaneous continuous glucose monitoring (CGM).
- Conditions
- Glycogen Storage Disease Type IA
- Being tested
- [6,6-2H2]glucose
- Medical subject headings
- Hepatorenal form of glycogen storage disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
[6,6-2H2]glucoseBiological
Each subject will be administered two oral [6,6-2H2]glucose loads (pre-prandial, fed) in the hospital setting and one oral [6,6-2H2]glucose load at home setting (random time). Capillary blood samples will be collected on filter paper 10 times at specific time points after each oral [6,6-2H2]glucose load.
| Study group | Role | What they receive |
|---|---|---|
| Patients | Experimental | GSDIa patients Receives: Biological: [6,6-2H2]glucose |
| Controls | Active comparator | Healthy volunteers Receives: Biological: [6,6-2H2]glucose |
What is being measured
The primary outcome is the main question the study is designed to answer.
[6,6-2H2]glucose concentration in GSDIa patients
Endogenous glucose production (EGP) in GSDIa will be assessed through minimal model calculation
Measured: every 10 minutes within the first hour as well as 75, 90 and 120 minutes after the oral load
Secondary outcomes (6)
[6,6-2H2]glucose concentration in GSDIa patients and matched healthy participants
Measured: every 10 minutes within the first hour as well as 75, 90 and 120 minutes after the oral load
[6,6-2H2]glucose concentration in severe and attenuated GSDIa patients
Measured: every 10 minutes within the first hour as well as 75, 90 and 120 minutes after the oral load
[6,6-2H2]glucose concentration in the pre-prandial state versus the fed state in GSDIa patients
Measured: every 10 minutes within the first hour as well as 75, 90 and 120 minutes after the oral load
[6,6-2H2]glucose concentration in the pre-prandial state versus the fed state in healthy participants
Measured: every 10 minutes within the first hour as well as 75, 90 and 120 minutes after the oral load
[6,6-2H2]glucose concentration in the controlled hospital setting versus the home setting in GSDIa patients
Measured: every 10 minutes within the first hour as well as 75, 90 and 120 minutes after the oral load
[6,6-2H2]glucose concentration in the controlled hospital setting versus the home setting in healthy participants
Measured: every 10 minutes within the first hour as well as 75, 90 and 120 minutes after the oral load
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted17 Mar 2020
- Study start19 Jan 2021
- Primary completion7 Feb 2022
- Study completion7 Feb 2022
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 Glycogen Storage Disease Type IAStudies of the same condition, open and under way.
- More trials run by University Medical Center GroningenThe sponsor's other registered studies.
- 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 1/2
- Primary purpose
- Basic science
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Enrolment
- 20 participants (actual)
Sponsor and investigators
- Lead sponsor
- University Medical Center Groningen
- Sponsor type
- University, hospital or other
- Collaborators
- Ultragenyx Pharmaceutical Inc
- Responsible party
- Principal investigator, Terry G.J. Derks, MD, PhD, University Medical Center Groningen
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04311307
- Sponsor's protocol ID
- NL73191.042.20
- Acronym
- ENGLUPRO GSDIa
- Status last verified
- Feb 2022
- First submitted
- 25 Feb 2020
- Last updated
- 11 Feb 2022
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Publications
Rossi A, Venema A, Haarsma P, Feldbrugge L, Burghard R, Rodriguez-Buritica D, Parenti G, Oosterveer MH, Derks TGJ. A Prospective Study on Continuous Glucose Monitoring in Glycogen Storage Disease Type Ia: Toward Glycemic Targets. J Clin Endocrinol Metab. 2022 Aug 18;107(9):e3612-e3623. doi: 10.1210/clinem/dgac411.
PubMed 35786777
Study at a glance
From the registry record, last updated by the sponsor on 11 Feb 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Endogenous Glucose Production in Subjects With Glycogen Storage Disease Type Ia Estimated by a Single Oral Dose of Stable Isotopes: an Investigator-initiated Human Pilot Study
- ClinicalTrials.gov ID
- NCT04311307
- Acronym / sponsor ID
- ENGLUPRO GSDIa / NL73191.042.20
- Conditions
- Glycogen Storage Disease Type IA
- Phase
- Phase 1/2
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 20 participants (actual)
- Lead sponsor
- University Medical Center GroningenUniversity, hospital or other
- Collaborators
- Ultragenyx Pharmaceutical Inc
- Study start
- 19 Jan 2021 (actual)
- Primary completion
- 7 Feb 2022 (actual)
- Study completion
- 7 Feb 2022 (actual)
- First posted
- 17 Mar 2020 (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.
Glycogen storage disease type Ia (GSDIa) subjects retain a limited capacity for endogenous glucose production (EGP). To date, the origin of residual EGP in GSDIa patients is unknown. Either increased glycogen debranching or lysosomal glycogen breakdown can account for residual EGP in GSDIa.
Innovative treatments for GSDIa (e.g. AAV8-mediated gene therapy and mRNA therapy) are being developed.Therefore, longitudinal minimally-invasive monitoring of outcomes after therapeutic interventions in GSD Ia subjects becomes warranted.
The primary objective is to test the feasibility of EGP quantification in adult GSDIa subjects by stable isotopes after a single oral [6,6-2H2]glucose dose. Secondary objectives are to compare EGP assessed by a single oral [6,6-2H2]glucose dose (a) in GSDIa patients versus matched healthy participants, (b) among GSDIa patients, (c) in the pre-prandial state versus the fed state, (d) in the controlled hospital setting versus the home setting. Data collected from the continuous glucose monitoring data will also be compared
Detailed description
Study design: An investigator-initiated human pilot-study. Study population: Ten adult subjects with GSDIa and ten age and gender-matched healthy subjects.
Interventions: Three experiments will be performed for each subject. During the first in hospital experiment, two oral D-[6,6-2H2]glucose loads will be performed 2 hours before breakfast and at lunchtime, respectively. The third oral D-[6,6-2H2]glucose load will be performed at home (random time). Capillary blood samples will be collected on filter paper at specific time points after each oral D-[6,6-2H2]glucose load. During the experiments, subjects will be monitored by subcutaneous continuous glucose monitoring (CGM).
Study design
- Primary purpose
- Basic science
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Patients | Experimental | Biological: [6,6-2H2]glucoseGSDIa patients |
| Controls | Active comparator | Biological: [6,6-2H2]glucoseHealthy volunteers |
Who may qualify
- Ages
- 16 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (3 listed)
- The diagnosis should be confirmed by G6PC mutation analysis
- Age above 16 years
- Stable medical condition before the start of the test procedures
Key exclusion criteria (6 listed)
- Age < 16 years
- Intercurrent illness
- Recent history of hospitalization due to hypoglycemia
- Pregnancy
- History suggestive of diabetes or fasting intolerance
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 |
|---|---|---|
| [6,6-2H2]glucoseEach subject will be administered two oral [6,6-2H2]glucose loads (pre-prandial, fed) in the hospital setting and one oral [6,6-2H2]glucose load at home setting (random time). Capillary blood samples will be collected on filter paper 10 times at specific time points after each oral [6,6-2H2]glucose load. | Biological | Controls, Patients |
Primary outcome
[6,6-2H2]glucose concentration in GSDIa patients
Time frame: every 10 minutes within the first hour as well as 75, 90 and 120 minutes after the oral load
Endogenous glucose production (EGP) in GSDIa will be assessed through minimal model calculation
6 secondary outcomes
[6,6-2H2]glucose concentration in GSDIa patients and matched healthy participants
Time frame: every 10 minutes within the first hour as well as 75, 90 and 120 minutes after the oral load
[6,6-2H2]glucose concentration in severe and attenuated GSDIa patients
Time frame: every 10 minutes within the first hour as well as 75, 90 and 120 minutes after the oral load
[6,6-2H2]glucose concentration in the pre-prandial state versus the fed state in GSDIa patients
Time frame: every 10 minutes within the first hour as well as 75, 90 and 120 minutes after the oral load
[6,6-2H2]glucose concentration in the pre-prandial state versus the fed state in healthy participants
Time frame: every 10 minutes within the first hour as well as 75, 90 and 120 minutes after the oral load
[6,6-2H2]glucose concentration in the controlled hospital setting versus the home setting in GSDIa patients
Time frame: every 10 minutes within the first hour as well as 75, 90 and 120 minutes after the oral load
[6,6-2H2]glucose concentration in the controlled hospital setting versus the home setting in healthy participants
Time frame: every 10 minutes within the first hour as well as 75, 90 and 120 minutes after the oral load
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 11 Feb 2022.
- Derived from this study: PubMed 35786777Rossi A, Venema A, Haarsma P, Feldbrugge L, Burghard R, Rodriguez-Buritica D, Parenti G, Oosterveer MH, Derks TGJ. A Prospective Study on Continuous Glucose Monitoring in Glycogen Storage Disease Type Ia: Toward Glycemic Targets. J Clin Endocrinol Metab. 2022 Aug 18;107(9):e3612-e3623. doi: 10.1210/clinem/dgac411.
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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 1/2 study testing [6,6-2H2]glucose in people with Glycogen Storage Disease Type IA, run by University Medical Center Groningen 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 6 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 11 Feb 2022. 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 combined phase mean?
Phase 1 studies test a treatment in a small group of people for the first time or in a new way, mainly to check safety and find the right dose.
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?
[6,6-2H2]glucose concentration in GSDIa patients (time frame: every 10 minutes within the first hour as well as 75, 90 and 120 minutes after the oral load). 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 NCT04311307, 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 11 Feb 2022.