Zoledronic Acid Treatment in Patients With Congenital Dyserythropoietic Anemia: An Exploratory Study
试验速览
- 阶段
- 1 期
- 状态
- 招募中
- 入组人数
- 2
- 试验地点
- 1
- 主要终点
- Change in Hemoglobin Level From Baseline
研究概览
简要总结
Background:
Congenital Dyserythropoietic Anemia (CDA) is a group of rare hereditary blood disorders characterized by ineffective erythropoiesis, leading to chronic anemia and organ damage. Current treatment options are very limited, mainly relying on regular blood transfusions, which can cause severe complications over time. Our laboratory research and animal models suggest that Zoledronic acid, a medication commonly used for bone health, may improve ineffective erythropoiesis.
Purpose:
The purpose of this exploratory study is to evaluate the efficacy and safety of Zoledronic acid in adult patients with CDA who do not have other effective treatment options. The primary goal is to see if this treatment can increase hemoglobin levels and reduce the need for blood transfusions.
Study Design:
This is a prospective, single-center, single-arm study. Participants will receive an initial intravenous dose (4 mg) of Zoledronic acid. After a 4-week observation period to ensure safety, participants will receive additional doses every 4 weeks for a total of 4 doses. Researchers will monitor hemoglobin levels, transfusion frequency, spleen size, and overall quality of life over a period of 12 to 24 weeks.
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
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Age ≥ 18 years, regardless of gender.
- •Diagnosis of Congenital Dyserythropoietic Anemia (CDA) based on clinical presentation, laboratory tests, and family investigation, with the presence of RBM28 mutation and/or increased vacuolization within nucleated red blood cells under light microscopy of bone marrow.
- •Presence of anemia (Hemoglobin < 100 g/L at screening) or transfusion dependence (defined as an average transfusion interval of < 8 weeks within the past 3 months).
- •Performance status is acceptable (ECOG score 0-2).
- •Normal renal function (estimated glomerular filtration rate, eGFR ≥ 60 mL/min/1.73m²).
- •Serum calcium levels within the normal range.
- •Female patients of childbearing potential must have a negative pregnancy test before enrollment and agree to use effective contraception during the study and for 3 months after completion.
- •The patient and/or guardian voluntarily sign the informed consent form.
排除标准
- •Known hypersensitivity to bisphosphonates or any of their excipients.
- •Severe periodontal disease or a recent history (within 6 months) of osteonecrosis of the jaw.
- •Hypocalcemia.
- •Pregnant or lactating women.
- •Currently receiving other experimental drug treatments that may affect erythropoiesis (e.g., Luspatercept).
- •Active, uncontrolled systemic infection.
- •Severe cardiac, pulmonary, or hepatic dysfunction, as judged by the investigator to be unsuitable for participation in the study
研究组 & 干预措施
Zoledronic Acid
Participants in this arm will receive a total of 4 doses of Zoledronic acid. Following the first dose, there is a 4-week safety observation period before proceeding with subsequent doses every 4 weeks. The total follow-up period for efficacy and safety assessment is 24 weeks.
干预措施: zoledronic acid (Drug)
结局指标
主要结局
Change in Hemoglobin Level From Baseline
时间窗: 12 weeks after the first dose
The primary endpoint is the hematologic response achieved by participants at 12 weeks after the first dose of Zoledronic acid. Response includes: 1) Complete Response (CR): Hemoglobin ≥ 120 g/L; 2) Partial Response (PR): Not meeting CR criteria, but achieving independence from red blood cell transfusions OR an increase in HGB of ≥ 20 g/L from baseline.
次要结局
- Change in Hemoglobin Level at 4 Weeks(4 weeks after the first dose)
- Change in Red Blood Cell Transfusion Interval(Up to 24 weeks)
- Change in Spleen Size(Up to 24 weeks)
- Change in Quality of Life Assessed by the 36-Item Short Form Health Survey (SF-36)(Up to 24 weeks)