Glycogen Storage Disease Type IBPhase 2NCT05960617
Efficacy and Safety of Empagliflozin in GSD-Ib Patients
A Phase 2 study testing Empagliflozin in people with Glycogen Storage Disease Type IB, run by Xinhua Hospital, Shanghai Jiao Tong University School of Medicine at 1 site in China.
Trial summary
Empagliflozin Treatment of GSD-1b patients Read more about this study
- Who is it for?
- Ages 1 year to 50 years
- Conditions the study is for
- Glycogen Storage Disease Type IB
- What is being tested?
- Empagliflozin
- Type of treatment
- Pill or oral medicine
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 0 participants
- Where
- 1 siteChina
- Study dates
- 15 Jul 2023to 31 Dec 2024
- 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 1 year to 50 years
- All sexes
- No healthy volunteers
- Child, Adult
Who may be able to join
- Patients with glycogen storage disease type Ib (genetically diagnosed) aged ≥ 1 year and ≤ 50 years;
- Patients meet the diagnostic criteria for Crohn's disease (CD) based on Expert consensus on the diagnosis and treatment of inflammatory bowel disease in Chinese children (2019) or Consensus opinion on the diagnosis and treatment of inflammatory bowel disease in China (2018), or patients meet the diagnostic criteria for recurrent respiratory tract infection based on Clinical diagnosis and treatment for recurrent respiratory tract infection in Chinese children (2022);
- Subjects and their guardians/clients (< 18 years old) or subjects (≥ 18 years old) signed the informed consent form.
Who cannot join
- Patients with chronic kidney disease (eGFR < 60 ml/min/1.73 m^2) or cirrhosis (Metavir F4);
- Experiencing symptomatic or severe hypoglycemia within 1 month before the start of this trial;
- Absolute neutrophil count continued ≥ 1.5 × 10^9/L (≥ 3 tests, each interval ≥ 5 days);
- Current active urinary tract infection (until urine routine twice negative);
- Participating other clinical investigators in the past 1 month;
- Pregnancy, breast-feeding and having a pregnancy plan;
- Presence of contraindications to empagliflozin therapy (hypersensitivity to empagliflozin, current or history of gangrene, history of recurrent urinary or genital infections);
- Patients who are not suitable for participating in the clinical investigator or with low compliance in the investigator 's opinion.
Trial locations and contacts
1 site in 1 country.
China1 site
Xinhua Hospital, Shanghai Jiao Tong University School of Medicine
Shanghai, Shanghai Municipality, 200092
About this study
Official title: Efficacy and Safety of Empagliflozin in Patients With Glycogen Storage Disease Type Ib
Empagliflozin Treatment of GSD-1b patients
Read the detailed description
Glycogen storage disease type Ib (GSD-Ib) is a type of genetic disease with a prevalence of approximately 1 in 500,000. In addition to phenotypes common to GSD-I such as hypoglycemia, hypoglycemia, lactatemia, hyperlipidemia, hyperuricemia, and hepatomegaly, GSD-Ib patients also experience neutropenia and dysfunction, causing infections and inflammatory bowel disease (IBD). At present, the only available treatment for neutropenia in GSD-Ib patients is subcutaneous injection of granulocyte-colony stimulating factor (G-CSF). G-CSF increases the number of neutrophils, but does not improve neutrophil dysfunction, and is also associated with the risk of concurrent splenomegaly and malignancy.
The most recent research findings demonstrated that substantial accumulation of 1,5-anhydroglucitol-phosphate is the cause of neutropenia and neutrophil dysfunction in GSD Ib patients. Empagliflozin, an SGLT2 inhibitor, is an efficient and secure approach of treating neutropenia in these patients by inhibiting renal glucose and 1,5-anhydroglucitol reabsorption. Our study's objective is to assess the efficacy and safety of empagliflozin (Jardiance®) in patients with GSD Ib.
- Conditions
- Glycogen Storage Disease Type IB
- Being tested
- Empagliflozin
- Medical subject headings
- Glycogen Storage Disease IB
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
EmpagliflozinDrug
Also called Jardiance
Oral administration of Empagliflozin:
The starting dose was 0.3 mg/kg/day in 2 divided doses for 3 months. If the subject had an absolute neutrophil count > 1.0 × 10^9/L and clinical improvement (decreased number of infections and/or decreased IBD activity within 3 months), the maintenance dose was maintained.
If the subject had an absolute neutrophil count < 1.0 × 10^9/L but clinical improvement (decreased number of infections and/or decreased IBD activity within 3 months), the maintenance dose was maintained and reassessed 1 month later.
If the subject had an absolute neutrophil count < 1.0 × 10^9/L and no clinical improvement (no change in number of infections and/or no change in IBD activity within 3 months), the dose was increased by 0.1 mg/kg/day and reassessed 3 months later.
Assessments were then performed every 3 months with the same dose modification criteria as above.
| Study group | Role | What they receive |
|---|---|---|
| Oral administration of Empagliflozin | Experimental | All subjects will have a baseline assessment and be prospectively followed up for 12 months to examine their outcome after receiving empagliflozin. Receives: Drug: Empagliflozin |
What is being measured
The primary outcome is the main question the study is designed to answer.
Change from Baseline in Absolute neutrophil count at 1 year
Efficacy of Empaglifozin measured by the change in absolute neutrophil count after 12 months of treatment compared to the period before study
Measured: 1 year
Occurrence of hypoglycemia
Safety and tolerability of Empaglifozin measured by hypoglycemia
Measured: 1 year
Secondary outcomes (7)
Number of infections
Efficacy of Empaglifozin measured by the number of respiratory tract, skin, and urinary tract infections
Measured: 1 year
Inflammatory bowel disease activity
Measured as classical Crohn 's disease activity index (CDAI) for adults (range from 0 to 600; remission <150; mildly active disease 150-219; moderately active disease 220- 450; severely active disease ≥ 450) or pediatric Crohn' s disease activity index (PCDAI) for children (range from 0 to 100; remission <10; mildly active disease 10-27.5; moderately active disease 30-37.5; severely active disease 40-100) after 3, 6, 9, and 12 months of treatment compared to the period before study
Measured: 1 year
Endoscopic scores of inflammatory bowel disease
Measured as difference in Crohn 's Disease Simplified Endoscopic Score (SES-CD) (range from 0 to 17; remission 0-2; mild endoscopic activity 3-6; moderate endoscopic activity 7-15; severe endoscopic activity >15) before and after 1 year of empagliflozin treatment
Measured: 1 year
Change of triglycerides
Measured as change of triglycerides (mmol/L) compared to the period before study
Measured: 1 year
Change of total cholesterol
Measured as change of total cholesterol (mmol/L) compared to the period before study
Measured: 1 year
Change of lactate
Measured as change of lactate (mmol/L) compared to the period before study
Measured: 1 year
Change of uric acid
Measured as change of uric acid (mmol/L) compared to the period before study
Measured: 1 year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted27 Jul 2023
- Study start15 Jul 2023
- Primary completion30 Jun 2024 (estimated)
- Study completion31 Dec 2024 (estimated)
Why it stopped: The study was not initiated because the planned prospective design was no longer feasible in routine clinical practice before participant enrollment.
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Glycogen Storage Disease Type IBStudies of the same condition, open and under way.
- More trials run by Xinhua Hospital, Shanghai Jiao Tong University School of MedicineThe 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 2
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 0 participants (actual)
Sponsor and investigators
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Wenjuan Qiu, MD PhD, Principal investigator, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05960617
- Sponsor's protocol ID
- XHEC-C-2023-051-2
- Status last verified
- Jun 2023
- First submitted
- 5 Jul 2023
- Last updated
- 18 Jun 2026
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 18 Jun 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Efficacy and Safety of Empagliflozin in Patients With Glycogen Storage Disease Type Ib
- ClinicalTrials.gov ID
- NCT05960617
- Acronym / sponsor ID
- XHEC-C-2023-051-2
- Conditions
- Glycogen Storage Disease Type IB
- Phase
- Phase 2
- Study type
- Interventional
- Recruitment status
- WithdrawnReason stopped: The study was not initiated because the planned prospective design was no longer feasible in routine clinical practice before participant enrollment.
- Enrolment
- 0 participants (actual)
- Lead sponsor
- Xinhua Hospital, Shanghai Jiao Tong University School of MedicineUniversity, hospital or other
- Study start
- 15 Jul 2023 (actual)
- Primary completion
- 30 Jun 2024 (estimated)
- Study completion
- 31 Dec 2024 (estimated)
- First posted
- 27 Jul 2023 (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.
Empagliflozin Treatment of GSD-1b patients
Detailed description
Glycogen storage disease type Ib (GSD-Ib) is a type of genetic disease with a prevalence of approximately 1 in 500,000. In addition to phenotypes common to GSD-I such as hypoglycemia, hypoglycemia, lactatemia, hyperlipidemia, hyperuricemia, and hepatomegaly, GSD-Ib patients also experience neutropenia and dysfunction, causing infections and inflammatory bowel disease (IBD). At present, the only available treatment for neutropenia in GSD-Ib patients is subcutaneous injection of granulocyte-colony stimulating factor (G-CSF). G-CSF increases the number of neutrophils, but does not improve neutrophil dysfunction, and is also associated with the risk of concurrent splenomegaly and malignancy.
The most recent research findings demonstrated that substantial accumulation of 1,5-anhydroglucitol-phosphate is the cause of neutropenia and neutrophil dysfunction in GSD Ib patients. Empagliflozin, an SGLT2 inhibitor, is an efficient and secure approach of treating neutropenia in these patients by inhibiting renal glucose and 1,5-anhydroglucitol reabsorption. Our study's objective is to assess the efficacy and safety of empagliflozin (Jardiance®) in patients with GSD Ib.
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Oral administration of Empagliflozin | Experimental | Drug: EmpagliflozinAll subjects will have a baseline assessment and be prospectively followed up for 12 months to examine their outcome after receiving empagliflozin. |
Who may qualify
- Ages
- 1 year to 50 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
Key inclusion criteria (3 listed)
- Patients with glycogen storage disease type Ib (genetically diagnosed) aged ≥ 1 year and ≤ 50 years;
- Patients meet the diagnostic criteria for Crohn's disease (CD) based on Expert consensus on the diagnosis and treatment of inflammatory bowel disease in Chinese children (2019) or Consensus opinion on the diagnosis and treatment of inflammatory bowel disease in China (2018), or patients meet the diagnostic criteria for recurrent respiratory tract infection based on Clinical diagnosis and treatment for recurrent respiratory tract infection in Chinese children (2022);
- Subjects and their guardians/clients (< 18 years old) or subjects (≥ 18 years old) signed the informed consent form.
Key exclusion criteria (8 listed)
- Patients with chronic kidney disease (eGFR < 60 ml/min/1.73 m^2) or cirrhosis (Metavir F4);
- Experiencing symptomatic or severe hypoglycemia within 1 month before the start of this trial;
- Absolute neutrophil count continued ≥ 1.5 × 10^9/L (≥ 3 tests, each interval ≥ 5 days);
- Current active urinary tract infection (until urine routine twice negative);
- Participating other clinical investigators in the past 1 month;
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 |
|---|---|---|
| EmpagliflozinAlso: JardianceOral administration of Empagliflozin: The starting dose was 0.3 mg/kg/day in 2 divided doses for 3 months. If the subject had an absolute neutrophil count > 1.0 × 10^9/L and clinical improvement (decreased number of infections and/or decreased IBD activity within 3 months), the maintenance dose was maintained. If the subject had an absolute neutrophil count < 1.0 × 10^9/L but clinical improvement (decreased number of infections and/or decreased IBD activity within 3 months), the maintenance dose was maintained and reassessed 1 month later. If the subject had an absolute neutrophil count < 1.0 × 10^9/L and no clinical improvement (no change in number of infections and/or no change in IBD activity within 3 months), the dose was increased by 0.1 mg/kg/day and reassessed 3 months later. Assessments were then performed every 3 months with the same dose modification criteria as above. | Drug | Oral administration of Empagliflozin |
Primary outcome
Change from Baseline in Absolute neutrophil count at 1 year
Time frame: 1 year
Efficacy of Empaglifozin measured by the change in absolute neutrophil count after 12 months of treatment compared to the period before study
Occurrence of hypoglycemia
Time frame: 1 year
Safety and tolerability of Empaglifozin measured by hypoglycemia
7 secondary outcomes
Number of infections
Time frame: 1 year
Inflammatory bowel disease activity
Time frame: 1 year
Endoscopic scores of inflammatory bowel disease
Time frame: 1 year
Change of triglycerides
Time frame: 1 year
Change of total cholesterol
Time frame: 1 year
Change of lactate
Time frame: 1 year
Change of uric acid
Time frame: 1 year
Results and safety
The study was withdrawn before enrolling participants, so there are no results.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 18 Jun 2026.
- Individual participant dataSharing planned: No
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Neutropenia
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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.
Wenjuan Qiu, MD PhD principal investigator
Xinhua Hospital, Shanghai Jiao Tong University School of Medicine
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 Empagliflozin in people with Glycogen Storage Disease Type IB, run by Xinhua Hospital, Shanghai Jiao Tong University School of Medicine at 1 site in China.
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 8 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: withdrawn, as of the sponsor's last update on 18 Jun 2026. 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 China. 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 was withdrawn before enrolling participants, so there are no results.
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?
Change from Baseline in Absolute neutrophil count at 1 year (time frame: 1 year). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
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 18 Jun 2026.