Would you be interested in hearing about new research findings or clinical trials for patients with Pelizaeus-Merzbacher Disease? Or in connecting with other families living with this condition?
Professor David Rowitch (Department of Paediatrics, University of Cambridge) has a long-term interest in better understanding Pelizaeus-Merzbacher Disease, and in the development of new treatments for it.
Between 2010-2012, he led the ‘first-in-man’ phase 1 clinical study of neural stem cell transplant for PMD sponsored by StemCells Inc., as well as the follow-up study, the results of which were published in 2019. Although this was a small study and no conclusions can be made about how effective this could prove to be as a possible treatment, it successfully established the safety of neural stem cell transplants, and also showed changes in the MRIs of patients consistent with the possibility of engraftment and myelin produced by the transplant itself.
Professor Rowitch’s lab has also collaborated with Professor Marius Wernig at Stanford University to discover that many of the mutations in PMD are toxic to oligodendrocytes (the cells in the central nervous system which produce myelin) due to the dysregulation of iron metabolism. This led to the proposal and pre-clinical testing of iron chelators (‘iron-binders’) like deferiprone, which penetrates the blood-brain barrier for potential treatment of some patients with PMD.
As well as these studies, there are also new clinical trials for PMD on the horizon in the UK, Europe and United States. This will include drug repurposing studies, cell-based and gene therapies.
If you would like to join our mailing list and be kept up-to-date with developments in this field, or be made aware of any recruiting clinical trials, please sign up here: https://lists.cam.ac.uk/sympa/info/paeds-pmd – just select the relevant option on the left hand side of the column. If you would like to use the mailing list to connect with other families, please use this link and contact the list owner, who will be happy to send out a message on your behalf.