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.
Study Type
INTERVENTIONAL
Allocation
NA
Purpose
TREATMENT
Masking
NONE
Enrollment
7
Transplantation of autologous stem cell enriched with MNV-BLD (blood-derived mitochondria)
Sheba Medical Center Hospital- Tel Hashomer
Ramat Gan, Israel
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.
Severity will graded according to CTCAE, Version 5.0
Time frame: 1 year
IPMDS (International Pediatric Mitochondrial Disease Scale)
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
Time frame: 1 year
Weight
To compare the changes (kilograms) to Baseline
Time frame: 1 year
Quantification of levels of normal mtDNA in blood and urine
To compare the changes to Baseline
Time frame: 1 years
Metabolic crisis events occurrence compared to two years prior to the study.
To compare the changes during 3 years (2 years prior the study entry and 1 year follow up)
Time frame: 3 Years
Change in renal function
Measurement of blood creatinine in a serum sample
Time frame: 1 year
Change in Brain involvement
Lactate peak as assessed by MRS
Time frame: 1 year
Height
To compare the changes (in meters) to Baseline
Time frame: 1 year
Change in cardiac function
Assessment of left ventricular ejection fraction via echocardiography
Time frame: 1 year
Monitoring for liver disease
Measurement of Aspartate Aminotransferase and Alanine aminotransferase level
Time frame: 1 year
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