Clinical trials for Pelizaeus-Merzbacher disease

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This is the first clinical trial with stem cells for treating a neurodegenerative disease resulting from a lack of myelin. Its aim is to test the safety and efficacy of transplantation of neural stem cells HuCNS-SC ® in pediatric patients with Pelizaeus-Merzbacher disease. These cells are derived neural precursors in the brain of fetuses that have the ability to produce oligodendrocytes, myelinating cells of the brain.

StemCells, Inc.., The biotechnology company that developed these cells, has completed a Phase I clinical trial in January 2009 when six patients with Batten disease, another rare disease, were treated similarly and reported positive results in terms of safety. The engraftment and long-term survival of cells in the brain were also found.

Status: Closed
Objective: To test the safety of transplanted cells and the effectiveness of the transplantation
Type of Test: Cell Therapy
Medicine: Human Neural Stem Cells
Reference: NCT01005004

Responsible physician
Dr. David Rowitch, chief of neonatology at Children's Hospital of the University of California at San Francisco and a member of the Scientific Board of the ELA Foundation.

Beginning of the test: 23/11/2009
Place: Department of Neonatology at Children's Hospital of the University of California, San Francisco
Funding: StemCells, Inc..

4 patients in the form conatale, the most severe form of the disease, participating in this trial. Children, only U.S. citizens or Canadians living in North America, had to meet the following inclusion criteria to participate in this clinical trial:

  • Boys with an age between 6 months and 5 years
  • Genetic tests confirming the PLP1 mutation
  • Decrease in cerebral white matter and brain volume by MRI
  • Clinical diagnosis of PMD conatale confirmed
  • Ability of the family to follow the protocol
  • Family's ability to understand the study and consent

Experimental treatment

  • received transplantation of neural stem cells by neurosurgery,
  • receive immunosuppressive therapy during the next nine months to prevent the rejection of transplanted stem cells,
  • followed intensively for one year to assess the safety and tolerability of the transplanted cells, the effects of surgery and immunosuppression but also to see if the children show signs of clinical improvement.

Various examinations will be used in this study including MRI to monitor the production of myelin, clinical examinations that will thoroughly evaluate neurological function and of the minutes from the parents.


See the preliminary results of the test (pages 12-13)

Monitoring of patients
MRI scans of the brain will be made for an additional four years to monitor potential problems associated with these cells.
Part of this follow-up study: NCT01391637 / Source: