Clinical Trial: MNGIE Allogeneic Hematopoietic Stem Cell Transplant Safety Study

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Interventional

Official Title: 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 Summary: 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.
Sponsor: Michio Hirano

Current Primary Outcome: neutrophil count (cells/L) [ Time Frame: 42 days ]

engraftment success


Original Primary Outcome: Same as current

Current Secondary Outcome:

  • 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: Same as current

Information By: Columbia University

Dates:
Date Received: February 10, 2015
Date Started: March 2015
Date Completion: June 2023
Last Updated: January 25, 2017
Last Verified: January 2017