COVID-19 is an emerging, rapidly evolving situation.
Get the latest public health information from CDC:

Get the latest research information from NIH: Menu

A Study to Evaluate the Safety and Therapeutic Effects of Transplantation of MNV-BM-BLD in Pediatric Patients With Pearson Syndrome

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT03384420
Recruitment Status : Enrolling by invitation
First Posted : December 27, 2017
Last Update Posted : March 26, 2020
Information provided by (Responsible Party):
Minovia Therapeutics Ltd.

Brief Summary:
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.

Condition or disease Intervention/treatment Phase
Mitochondrial Diseases Pearson Syndrome Biological: CD34+ cells enriched with MNV-BLD Phase 1 Phase 2

Layout table for study information
Study Type : Interventional  (Clinical Trial)
Actual Enrollment : 7 participants
Allocation: N/A
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Treatment
Official Title: 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
Actual Study Start Date : February 13, 2019
Estimated Primary Completion Date : January 1, 2021
Estimated Study Completion Date : January 1, 2021

Arm Intervention/treatment
Experimental: Intervention 'CD34+ cells enriched with MNV-BLD'
Intervention 'CD34+ cells enriched with MNV-BLD'
Biological: CD34+ cells enriched with MNV-BLD
Transplantation of autologous stem cell enriched with MNV-BLD (blood-derived mitochondria)

Primary Outcome Measures :
  1. Number of participants with treatment-related adverse events as assessed by CTCAE v4.0 following MNV-BM-BLD infusion. [ Time Frame: 1 year ]
    Toxicities will according to CTCAE, Version 5.0 will be assessed starting enrollment.

  2. Change in Quality of Life (QoL) questionnaire IPMDS (International Pediatric Mitochondrial Disease Scale) [ Time Frame: 1 year ]
    To explore 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

Secondary Outcome Measures :
  1. Percent of mitochondrial engraftment, per participant, compared to baseline, by serial qPCR in peripheral blood performed monthly. [ Time Frame: 1 years ]
    We will monitor the engraftment of infused autologous cells enriched with normal mitochondria by measuring the level of the mitochondrial DNA by a qPCR assay designed to detect and separate between the participant's mitochondria and the normal donor mitochondria. Assays will be performed at baseline, monthly during the first year following the intervention, and then every 3 months.

Other Outcome Measures:
  1. To measure change from baseline in cognitive status per patient by serial neuro-developmental clinical exams. [ Time Frame: 1 years ]
    Neuro-developmental assessment will be performed by a board-certified neurologist at baseline and every 6 months

  2. Number of patients with changes in brain MRI from baseline [ Time Frame: 1 years ]
    Brain MRI will be done at baseline to detect changes associated with mitochondrial disorders. Follow-up will at 1 year.

  3. To measure change from baseline in aerobic activity by 5-minute walk test or exercise test, according to baseline ability. [ Time Frame: 1 years ]
    Aerobic activity will be assessed at baseline and every 6 months

  4. To measure the change from baseline in weight as compared to age-specific growth charts - from baseline and monthly throughout the study [ Time Frame: 1 years ]
    Growth is delayed in many mitochondrial disorders; We will follow weight gain of participants in this study and compare to control growth charts

  5. Number of patients developing anti-mitochondrial antibodies compared to baseline during the study period. [ Time Frame: 1 year ]
    For potential immune reactions, anti-mitochondrial antibodies will be determined at baseline, and every 3 months till 1 year.

  6. To measure change from baseline in peripheral blood lactate level. [ Time Frame: 1 years ]
    Determination of change in basic metabolic parameters in peripheral blood as a result of mitochondrial augmentation, focusing on lactate level. Measurements will be performed at baseline and every 3 months.

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

Layout table for eligibility information
Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

Inclusion Criteria:

  • Molecular evidence of non-inherited mitochondrial disorder with a defect identified in the mitochondrial DNA
  • Normal maternal mitochondria

Exclusion Criteria:

  • Absence of detectable mitochondrial mutation or deletion
  • Maternal condition inadequate for 1 unit of blood donation
  • HIV, Hepatitis B or C carrier in child or their mother
  • Active severe infection
  • Inability to undergo leukapheresis

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT03384420

Layout table for location information
Sheba Medical Center Hospital- Tel Hashomer
Ramat Gan, Israel
Sponsors and Collaborators
Minovia Therapeutics Ltd.
Layout table for additonal information
Responsible Party: Minovia Therapeutics Ltd. Identifier: NCT03384420    
Other Study ID Numbers: MNV-BM-BLD-001-IL
First Posted: December 27, 2017    Key Record Dates
Last Update Posted: March 26, 2020
Last Verified: March 2020
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided

Layout table for additional information
Studies a U.S. FDA-regulated Drug Product: Yes
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Minovia Therapeutics Ltd.:
Autologous stem cell transplantation
Additional relevant MeSH terms:
Layout table for MeSH terms
Muscular Diseases
Lipid Metabolism, Inborn Errors
Mitochondrial Diseases
Pathologic Processes
Metabolic Diseases
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Lipid Metabolism Disorders
Musculoskeletal Diseases
Neuromuscular Diseases
Nervous System Diseases