Efficacy and Safety of Empagliflozin in Patients With Glycogen Storage Disease Type Ib
试验速览
- 阶段
- 2 期
- 状态
- 撤回
- 入组人数
- 10
- 试验地点
- 1
- 主要终点
- Occurrence of hypoglycemia
研究概览
简要总结
Empagliflozin Treatment of GSD-1b patients
详细描述
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.
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Treatment
- 盲法
- None
入排标准
- 年龄范围
- 1 Year 至 50 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •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.
排除标准
- •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.
研究组 & 干预措施
Oral administration of Empagliflozin
All subjects will have a baseline assessment and be prospectively followed up for 12 months to examine their outcome after receiving empagliflozin.
干预措施: Empagliflozin (Drug)
结局指标
主要结局
Occurrence of hypoglycemia
时间窗: 1 year
Safety and tolerability of Empaglifozin measured by hypoglycemia
Change from Baseline in Absolute neutrophil count at 1 year
时间窗: 1 year
Efficacy of Empaglifozin measured by the change in absolute neutrophil count after 12 months of treatment compared to the period before study
次要结局
- Number of infections(1 year)
- Change of total cholesterol(1 year)
- Endoscopic scores of inflammatory bowel disease(1 year)
- Change of triglycerides(1 year)
- Inflammatory bowel disease activity(1 year)
- Change of lactate(1 year)
- Change of uric acid(1 year)