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MNGIE Allogeneic Hematopoietic Stem Cell Transplant Safety Study (MASS)

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.
ClinicalTrials.gov Identifier: NCT02427178
Recruitment Status : Withdrawn (Poor enrollment)
First Posted : April 27, 2015
Last Update Posted : August 1, 2022
Cornell University
National Institute of Neurological Disorders and Stroke (NINDS)
Information provided by (Responsible Party):
Michio Hirano, MD, Columbia University

Brief Summary:
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.

Condition or disease Intervention/treatment Phase
Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE) Biological: Hematopoietic Allogeneic Stem Cells Phase 1

Detailed Description:
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.

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Study Type : Interventional  (Clinical Trial)
Actual Enrollment : 0 participants
Allocation: N/A
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Treatment
Official Title: MNGIE (Mitochondrial Neurogastrointestinal Encephalomyopathy) AHSCT (Allogeneic Hematopoietic Stem Cell Transplant) Safety Study
Estimated Study Start Date : March 2015
Estimated Primary Completion Date : June 2022
Estimated Study Completion Date : June 2023

Arm Intervention/treatment
Experimental: Open label

Hematopoietic allogeneic stem cells will be transplanted:

HLA testing will be performed on potential stem cell donors. HLA 10/10 matched donors are eligible, however there are additional criteria that will be applied to determine an acceptable donor. Patients will receive 2 X10 6 CD34 cells/kg weight.

Biological: Hematopoietic Allogeneic Stem Cells
HLA 10/10 matched allogeneic bone marrow cells will be infused into recipient (patient).

Primary Outcome Measures :
  1. neutrophil count (cells/L) [ Time Frame: 42 days ]
    engraftment success

Secondary Outcome Measures :
  1. number of patient survival days [ Time Frame: 100 days ]
    is the patient al

  2. chimerism percentage [ Time Frame: 100 days ]
    percent of donor cell chimerism at 100 days

  3. micromole/l dUrd [ Time Frame: 100 days ]
    level of deoxyuridine

  4. micromole Thd [ Time Frame: 100 days ]
    level of thymidine

Information from the National Library of Medicine

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Ages Eligible for Study:   5 Years to 55 Years   (Child, Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

Inclusion Criteria:

  • 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

Exclusion Criteria:

  • 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

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 ClinicalTrials.gov identifier (NCT number): NCT02427178

Sponsors and Collaborators
Michio Hirano, MD
Cornell University
National Institute of Neurological Disorders and Stroke (NINDS)
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Principal Investigator: Michio Hirano, MD Columbia University
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Responsible Party: Michio Hirano, MD, Professor of Neurology, Columbia University
ClinicalTrials.gov Identifier: NCT02427178    
Obsolete Identifiers: NCT02363881
Other Study ID Numbers: AAAI1718
U54NS078059 ( U.S. NIH Grant/Contract )
First Posted: April 27, 2015    Key Record Dates
Last Update Posted: August 1, 2022
Last Verified: July 2022
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Yes
Plan Description: When applicable, we will submit a manuscript describing the results
Keywords provided by Michio Hirano, MD, Columbia University:
Allogeneic Hematopoietic Stem Cell Transplantation
Stem Cell transplant