Immunological, Dermatological, and Neurological Effects of Sirolimus in Ataxia-Telangiectasia
试验速览
- 阶段
- 2 期
- 状态
- 已完成
- 发起方
- 入组人数
- 6
- 试验地点
- 1
- 主要终点
- Adverse effects and laboratory safety after treatment
研究概览
简要总结
Ataxia-telangiectasia (A-T) is a progressive disease which is, to date, incurable, affecting motor skills, and a high cancer and recurrent infections risk. Although there has been great progress in recent years in understanding its pathophysiology, we have little information that produces any benefit for its treatment. Thus, Sirolimus has a wide variety of potential mechanisms of action that could be beneficial in A-T, including neuroprotective effects, antiangiogenic, anti-infectious, antineoplastic, and aging slower. With that aim, we conducted a pilot study in our hospital evaluating the safety and potential benefit of sirolimus in the disease.
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
- — 至 16 Years（Child）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Patients younger than 17 years with a clinical and genetic diagnosis of ataxia telangiectasia (A-T).
- •Written informed consent obtained from parents or legal guardians.
排除标准
- •Concomitant oncologic or hematologic diagnosis.
- •Current treatment with immunosuppressive agents.
研究组 & 干预措施
Sirolimus Treatment
After baseline evaluation, oral sirolimus was initiated at a dose of 1 mg/m²/day divided into two daily doses. Treatment duration was 6 months, safety was assessed throughout the trial. Laboratory studies and adverse events were assessed every 2 months.
干预措施: Rapamune (sirolimus/rapamycin) (Drug)
结局指标
主要结局
Adverse effects and laboratory safety after treatment
时间窗: From enrollment to the end of treatment at 6 months
After baseline evaluation, oral sirolimus was initiated at a dose of 1 mg/m²/day divided into two daily doses. Treatment duration was 6 months, safety was assessed throughout the trial. Laboratory studies and adverse events were assessed every 2 months.
次要结局
- Neurological function assessed by the Scale for the Assessment and Rating of Ataxia(From enrollment to the end of treatment at 6 months)
- Immunological and laboratory evaluation(From enrollment to the end of treatment at 6 months)
- Percentage of conjunctival vascular area(From enrollment to the end of treatment at 6 months)
- Image Analysis(From enrollment to the end of treatment at 6 months)
- Cognitive performance assessed by the Cerebellar Cognitive Affective Syndrome Scale(From enrollment to the end of treatment at 6 months)
- Executive functioning assessed by the Behavior Rating Inventory of Executive Function, Second Edition(From enrollment to the end of treatment at 6 months)
- Emotional and behavioral functioning assessed by the Child Behavior Checklist(From enrollment to the end of treatment at 6 months)
研究者
Sara Elva Espinosa Padilla, MD
Research Director
National Institute of Pediatrics, Mexico