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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Recruitment Status : Withdrawn (Poor enrollment)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

Tracking Information
First Submitted Date  ICMJE February 10, 2015
First Posted Date  ICMJE April 27, 2015
Last Update Posted Date August 1, 2022
Estimated Study Start Date  ICMJE March 2015
Estimated Primary Completion Date June 2022   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures  ICMJE
 (submitted: April 22, 2015)
neutrophil count (cells/L) [ Time Frame: 42 days ]
engraftment success
Original Primary Outcome Measures  ICMJE Same as current
Change History
Current Secondary Outcome Measures  ICMJE
 (submitted: April 22, 2015)
  • number of patient survival days [ Time Frame: 100 days ]
    is the patient al
  • chimerism percentage [ Time Frame: 100 days ]
    percent of donor cell chimerism at 100 days
  • micromole/l dUrd [ Time Frame: 100 days ]
    level of deoxyuridine
  • micromole Thd [ Time Frame: 100 days ]
    level of thymidine
Original Secondary Outcome Measures  ICMJE Same as current
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
Descriptive Information
Brief Title  ICMJE MNGIE Allogeneic Hematopoietic Stem Cell Transplant Safety Study
Official Title  ICMJE MNGIE (Mitochondrial Neurogastrointestinal Encephalomyopathy) AHSCT (Allogeneic Hematopoietic Stem Cell Transplant) Safety Study
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.
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.
Study Type  ICMJE Interventional
Study Phase  ICMJE Phase 1
Study Design  ICMJE Allocation: N/A
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Treatment
Condition  ICMJE Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE)
Intervention  ICMJE Biological: Hematopoietic Allogeneic Stem Cells
HLA 10/10 matched allogeneic bone marrow cells will be infused into recipient (patient).
Study Arms  ICMJE 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.

Intervention: Biological: Hematopoietic Allogeneic Stem Cells
Publications *

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
Recruitment Information
Recruitment Status  ICMJE Withdrawn
Actual Enrollment  ICMJE
 (submitted: July 28, 2022)
Original Estimated Enrollment  ICMJE
 (submitted: April 22, 2015)
Estimated Study Completion Date  ICMJE June 2023
Estimated Primary Completion Date June 2022   (Final data collection date for primary outcome measure)
Eligibility Criteria  ICMJE

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
Sex/Gender  ICMJE
Sexes Eligible for Study: All
Ages  ICMJE 5 Years to 55 Years   (Child, Adult)
Accepts Healthy Volunteers  ICMJE No
Contacts  ICMJE Contact information is only displayed when the study is recruiting subjects
Listed Location Countries  ICMJE Not Provided
Removed Location Countries United States
Administrative Information
NCT Number  ICMJE NCT02427178
Other Study ID Numbers  ICMJE AAAI1718
U54NS078059 ( U.S. NIH Grant/Contract )
Has Data Monitoring Committee Yes
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement  ICMJE
Plan to Share IPD: Yes
Plan Description: When applicable, we will submit a manuscript describing the results
Current Responsible Party Michio Hirano, MD, Columbia University
Original Responsible Party Michio Hirano, Columbia University, Professor of Neurology
Current Study Sponsor  ICMJE Michio Hirano, MD
Original Study Sponsor  ICMJE Michio Hirano
Collaborators  ICMJE
  • Cornell University
  • National Institute of Neurological Disorders and Stroke (NINDS)
Investigators  ICMJE
Principal Investigator: Michio Hirano, MD Columbia University
PRS Account Columbia University
Verification Date July 2022

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP