MNGIE (Mitochondrial Neurogastrointestinal Encephalomyopathy) AHSCT (Allogeneic Hematopoietic Stem Cell Transplant) Safety Study
试验速览
- 阶段
- 1 期
- 状态
- 撤回
- 发起方
- 主要终点
- neutrophil count (cells/L)
研究概览
简要总结
The purpose of this study is to find out if a stem cell transplant is safe for patients with a very rare disease. The stem cell transplant is called AHSCT (for "allogeneic hematopoetic stem cell transplantation"). The rare disease is called MNGIE (for "Mitochondrial NeuroGastroIntestinal Encephalomyopathy"). Patients with MNGIE will be transplanted with stem cells from an individual who is human leukocyte antigen (HLA) 10/10 matched. The purpose of the transplant is the production of thymidine phosphorylase.
详细描述
Patients who have been identified as having MNGIE by genetic testing and/or reduced thymidine phosphorylase levels will be considered for this study. The study team physician will evaluate the condition of the patient and determine if they are eligible. An HLA matched donor is necessary for transplantation. If a suitable donor is found the transplant process can proceed. The patient receives immunosuppressive therapy ( 1 week in the hospital) with subsequent IV transfer of stem cells from the donor. The patient remains in the hospital for approximately 1 month to monitor the transplant. The patient is required to attend research visits at days 0, 100, 6m, 18m and 24 m.
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
- 5 Years 至 55 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Homozygous or compound heterozygous mutations in the TYMP gene
- •Plasma thymidine level >3micromole/L
- •Plasma deoxyuridine >7.5 micromole/L
- •5 to 55 years of age
- •Appropriate stem cell donor (HLA 10/10 matched)
- •Karnofsky performance of at least 55
排除标准
- •Severe cognitive impairment
- •Severe psychiatric illness
- •Moderate to severe lung disease
- •Prior episode of peritonitis due to perforated diverticula
- •Prior episode of intestinal pseudo-obstruction
- •Moderate to severe hepatopathy
- •Moderate to severe diabetes Mellitus
- •Moderate to severe cardiomyopathy
- •Moderate to severe nephropathy
- •Pregnancy or planning to become pregnant during study
- •Hypersensitivity to E.coli derived products
- •HIV disease
- •Positive to anti-donor HLA DP
结局指标
主要结局
neutrophil count (cells/L)
时间窗: 42 days
engraftment success
次要结局
- chimerism percentage(100 days)
- micromole Thd(100 days)
- number of patient survival days(100 days)
- micromole/l dUrd(100 days)
研究者
Michio Hirano, MD
Professor of Neurology
Columbia University