Ameliorating symptoms
Rather than addressing the underlying cause of Rett Syndrome, these projects endeavour to shortcut the process of finding treatment for Rett Syndrome by attempting to identify existing drugs that have the ability to improve symptoms.
A project underway in the laboratory of Andrew Pieper, Ph.D., based at the University of Texas, involves the careful and methodical screening of a large number of FDA (US Food and Drug Administration) approved drugs and compounds.
This use of previously approved drugs and compounds means that those which ameliorate symptoms or progression of the disease in mice can be immediately evaluated and fast-tracked to clinical trials, bypassing the usual lengthy process of drug discovery.
Another project in the laboratory of Huda Zoghbi involves a detailed in-depth evaluation of specific FDA approved drugs in different mouse models of the disease; the knockout, the truncated Mecp2 and the Mecp2 over-expressing mouse lines. It was Huda Zoghbi's lab who first identified mutations in MECP2 as the cause of Rett Syndrome in 1999.
When it is discovered that a previously approved drug is useful for a new purpose, this is called 'repurposing.' Sometimes drug repurposing happens when patients or doctors notice a particular side-effect and that side-effect is exploited as with 'off-label' usage. In these two projects, the drugs are being assessed through careful and methodical screening.
There are many common drugs which were initially intended for other purposes. To learn more about repurposed drugs click here.
A new project in the lab of Jonathan Kipnis Ph.D., involves boosting the immune system in Rett via bone marrow transplants and pharmacological interventions, to see if this has any effect on symptoms.
RSRT UK funding delivered to these projects to date:
Pieper
September 2011 £16,000
June 2011 £13,012
March 2011 £6250
Dec 2010 £20,000
Total RSRT UK funding to date: £55,262
Sept 2011 £16,000
June 2011 £14,121
March 2011 £6250
Dec 2010 £14,200
Total RSRT UK funding to date: £50,571
Zoghbi
Dec 2010 £11,600