A Phase I/II, Open Label, Single Dose Clinical Study to Evaluate the Safety and Therapeutic Effects of Transplantation of MNV-BM-BLD (Autologous cd34+ Cells Enriched With Blood Derived Mitochondria) in Pediatric Patients With Pearson Syndrome
试验速览
- 阶段
- 1 期
- 状态
- 已完成
- 入组人数
- 7
- 试验地点
- 1
- 主要终点
- IPMDS (International Pediatric Mitochondrial Disease Scale)
研究概览
简要总结
Mitochondrial diseases are a genetically heterogeneous group of disorders caused by mutations or deletions in mitochondrial DNA (mtDNA) displaying a wide range of severity and phenotypes. These diseases may be inherited from the mother (mitochondrial inheritance) or non-inherited. The latter are ultra-rare pediatric diseases caused by a mutation or deletion of mtDNA, which develop into a systemic multi organ disease and eventually death. MNV-BM-BLD is a therapeutic process for enrichment of patient's peripheral hematopoietic stem cells with normal and healthy mitochondria derived from donor blood cells. The process, called mitochondria augmentation therapy, aims to reduce the symptoms of mitochondrial diseases.
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
- 3 Years 至 18 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Patient diagnosed with Pearson Syndrome, as verified by molecular identification of a defect in the mitochondrial DNA.
- •Normal maternal mitochondria as verified by mtDNA sequencing.
- •Males and females between 3 years or older and up to 18th birthday.
- •Patient is transfusion independent.
- •Patient has at least one of the following systematic involvements:
- •High baseline lactate levels
- •Episodes of metabolic crisis in the last year before pre-screening
- •Renal failure (not dependent on dialysis) or evidence of proximal tubulopathy
- •Growth retardation or failure to thrive
排除标准
- •Absence of detectable mitochondria mutation or deletion.
- •Patient or patient's mother have a positive test for microbiologic
- •Patient is unable to undergo leukapheresis.
- •Patient suffers from chronic severe infection, malignant disease or any other disease or condition that may risk the patient or interfere with the ability to interpret the study results.
- •Patient has been treated previously with any cell or gene therapy.
- •Patient has participated in another clinical treatment trial or received other experimental medications outside of a clinical trial within 1 month prior to start of this study.
研究组 & 干预措施
Intervention CD34+ cells enriched with MNV-BLD
Intervention CD34+ cells enriched with MNV-BLD
干预措施: CD34+ cells enriched with MNV-BLD (Biological)
结局指标
主要结局
IPMDS (International Pediatric Mitochondrial Disease Scale)
时间窗: 1 year
To compare the change in International Pediatric Mitochondrial Disease Scale (IPMDS) score during a follow up period of 12 months post treatment. IPMDS total score ranges from 0 to 243. The score is expressed as the percentage of items which were feasible to perform. The lower the score is, the higher the child's function
Number of participants with Treatment-related adverse events as assessed by CTCAE v5.0 following MNV-BM-BLD during a follow up period of 12 months post treatment.
时间窗: 1 year
Severity will graded according to CTCAE, Version 5.0
次要结局
- Change in renal function(1 year)
- Monitoring for liver disease(1 year)
- Change in Brain involvement(1 year)
- Height(1 year)
- Weight(1 year)
- Quantification of levels of normal mtDNA in blood and urine(1 years)
- Metabolic crisis events occurrence compared to two years prior to the study.(3 Years)
- Change in cardiac function(1 year)