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Clinical Trial Details — Status: Recruiting

Administrative data

NCT number NCT05960617
Other study ID # XHEC-C-2023-051-2
Secondary ID
Status Recruiting
Phase Phase 2
First received
Last updated
Start date July 15, 2023
Est. completion date December 31, 2024

Study information

Verified date June 2023
Source Xinhua Hospital, Shanghai Jiao Tong University School of Medicine
Contact Wenjuan Qiu, MD PhD
Phone +86-21-25076466
Email qiuwenjuan@xinhuamed.com.cn
Is FDA regulated No
Health authority
Study type Interventional

Clinical Trial Summary

Empagliflozin Treatment of GSD-1b patients


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.


Recruitment information / eligibility

Status Recruiting
Enrollment 10
Est. completion date December 31, 2024
Est. primary completion date June 30, 2024
Accepts healthy volunteers No
Gender All
Age group 1 Year to 50 Years
Eligibility Inclusion Criteria: 1. Patients with glycogen storage disease type Ib (genetically diagnosed) aged = 1 year and = 50 years; 2. 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); 3. Subjects and their guardians/clients (< 18 years old) or subjects (= 18 years old) signed the informed consent form. Exclusion Criteria: 1. Patients with chronic kidney disease (eGFR < 60 ml/min/1.73 m^2) or cirrhosis (Metavir F4); 2. Experiencing symptomatic or severe hypoglycemia within 1 month before the start of this trial; 3. Absolute neutrophil count continued = 1.5 × 10^9/L (= 3 tests, each interval = 5 days); 4. Current active urinary tract infection (until urine routine twice negative); 5. Participating other clinical investigators in the past 1 month; 6. Pregnancy, breast-feeding and having a pregnancy plan; 7. Presence of contraindications to empagliflozin therapy (hypersensitivity to empagliflozin, current or history of gangrene, history of recurrent urinary or genital infections); 8. Patients who are not suitable for participating in the clinical investigator or with low compliance in the investigator 's opinion.

Study Design


Intervention

Drug:
Empagliflozin
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.

Locations

Country Name City State
China Xinhua Hospital, Shanghai Jiao Tong University School of Medicine Shanghai Shanghai

Sponsors (1)

Lead Sponsor Collaborator
Xinhua Hospital, Shanghai Jiao Tong University School of Medicine

Country where clinical trial is conducted

China, 

Outcome

Type Measure Description Time frame Safety issue
Primary 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 1 year
Primary Occurrence of hypoglycemia Safety and tolerability of Empaglifozin measured by hypoglycemia 1 year
Secondary Number of infections Efficacy of Empaglifozin measured by the number of respiratory tract, skin, and urinary tract infections 1 year
Secondary 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 1 year
Secondary 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 1 year
Secondary Change of triglycerides Measured as change of triglycerides (mmol/L) compared to the period before study 1 year
Secondary Change of total cholesterol Measured as change of total cholesterol (mmol/L) compared to the period before study 1 year
Secondary Change of lactate Measured as change of lactate (mmol/L) compared to the period before study 1 year
Secondary Change of uric acid Measured as change of uric acid (mmol/L) compared to the period before study 1 year
See also
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Completed NCT02054832 - Sleep and Quality of Life in Patients With Glycogen Storage Disease on Standard Versus Modified Uncooked Cornstarch N/A
Recruiting NCT04986735 - Prospective Cohort Study of Children With GSD1b Receiving Empagliflozin
Terminated NCT05915910 - Prospective Collection of Biospecimen in Pediatric Patients and Adult Guardians Diagnosed With Glycogen Storage Disease Type 1B (GSD1b)