Pelizaeus-Merzbacher Disease (PMD) is a rare, inherited condition involving the central nervous system (brain and spinal cord). The disease is one of a group of disorders known as the “leukodystrophies.” Leukodystrophies cause degeneration of the myelin (covering that protects our nerves and makes it able to transmit nerve impulses). This myelin is produced by oligodendorcytes (helper cells in the central nervous system).
Outcome for PMD
Children with PMD are unable to form myelin. As a result, children have impaired function in language development and memory, delayed motor skills seen as poor coordination and the inability to walk. Symptoms can begin in infancy and include problems with feeding, muscle weakness (hypotonia), involuntary eye movements (nystagmus), muscle stiffness (spasticity), problems with movement and balance (ataxia) and seizures. The diagnosis can be confirmed by MRI. Lack of myelination can be detected by MRI testing of the brain and spine.
What Causes PMD?
Pelizaeus-Merzbacher Disease is generally caused by a mutation in the gene that controls the production of a myelin protein called proteolipid protein (PLP). PMD is inherited as an X-linked recessive trait, which means that the affected children are male and the mothers are the carriers of the PLP mutation. Currently there is no cure for PMD and there is no standard course of treatment apart from supportive care of the child’s symptoms, including medications for seizure control.
PMD is divided into several types. The prognosis for those with the most severe type, called connatal PMD, is poor as badly formed protein builds up in the oligodendrocytes and triggers apoptosis (programmed cell death). Connatal PMD ultimately leads to progressive deterioration and death during early childhood.
PMD Clinical Trial
The PMD Phase I safety study has completed it's enrollment and no more applicants will be accepted.
The current PMD Clinical Trial focuses on connatal PMD, the most severe type. The study will help doctors learn more about the safety of a potential new treatment for Pelizaeus-Merzbacher disease using human central nervous system stem cells (HuCNS-SC® cells). The study results will help determine whether further studies with these neural stem cells are safe and warranted.
If you are interested obtaining more information on this trial please review the PMD Clinical Trial page and PMD Trial FAQ. If you have additional questions please call us at 1-800-793-3887 to speak to our clinical trial coordinator or email PMD@ucsfmedicalcenter.org.
We also recommend that you download our Pelizaeus-Merzbacher Disease (PMD) Brochure [PDF 4.7MB]
Current News & Research
StemCells, Inc. Announces First Human Neural Stem Cell Transplant in Landmark Myelination Disorder Trial
STEMCELLS, INC. initiates landmark trial targeting “communication Highway” of the brain
- First stem cell clinical trial for treating brain’s “communication highway” to begin
- StemCells, Inc. To Initiate First Ever Neural Stem Cell Trial In Myelination Disorder
- Multiple Sclerosis: A New Theory for Why Repair of the Brain's Wiring Fails
- StemCells, Inc. Announces Positive Phase I Batten Trial Results--Reports Evidence of Engraftment and Long-Term Survival of HuCNS-SC® Cells
- StemCells, Inc. Comments On PLoS Medicine Article Concerning Cell Transplants In Russia
- StemCells, Inc. Receives FDA Approval To Initiate Clinical Trial Of HuCNS-SC® Cells In A Myelin Disease
Support Groups & Organizations