The Canadian MPS Society Board of Directors has supported our decision to fund a $110,000 research grant over two years to Dr. Douglas McCarty from Nationwide Children’s Hospital in Columbus, Ohio. Dr. McCarty is researching MPS II gene therapy and is our hope for a cure. This grant has successfully exhausted our MPS II funds from The Canadian MPS Society and from now on we will be fundraising for and granting research funds from our MPS II Research Fund within The Isaac Foundation. If anyone has questions regarding this, please ask! Below is the short summary of Dr. McCarty’s project:
The objective of this project is to develop gene therapy for the combined treatment of both the neurologic and somatic pathology of MPS II by systemic gene delivery. This approach takes advantage of the vast expanse of vasculature serving critical organs and tissues, particularly the brain, and the recently recognized ability of some serotypes of adeno-associated virus (AAV) to cross the blood-brain-barrier. Due to the relatively small size of the human IDS gene, we will utilize self-complementary AAV constructs, which essentially contain both strands of the DNA double helix rather than a single strand as in conventional AAV vectors. Packaged in an AAV serotype 9 capsid, these vectors can restore deficient genes in somatic tissues including liver, skeletal muscle, and heart, and have the ability to cross the blood-brain barrier for CNS delivery. Part of this objective will include the comparison of two different transcriptional promoters to control expression of the IDS gene: the ubiquitously active mouse U1a promoter, which has been effective for CNS expression and improvement of cognitive function in the MPS IIIA mouse model; and a miniaturized promoter derived from cytomegalovirus, with potentially higher activity in muscle and heart tissues. Similar AAV9 vector constructs are under development for a wide variety of somatic and CNS diseases, with a strong record of safety and efficacy in pre-clinical models which will provide further support for the direct translation of this project into a workable gene therapy treatment.
In other news, Trey received his second local dose of intrathecal enzyme at BC Children’s Hospital as part of the MPS II IT trial based out of UNC last Thursday, September 19. It’s Trey’s 25th IT dose total.
We spent September 20 in Emergency at BC Children’s Hospital because Trey could not weight bear on his right leg after two weeks of limping off and on and we had an emergency MRI this past Monday, September 23. Yesterday we saw ENT, Rheumatology, PT and OT for range of motion measurements at BCCH (routine), and then followed up with the orthopedic surgeon to get results from the MRI. The doctor could not see anything indicating why Trey suddenly could not walk, but tonight I found out the report shows a meniscal tear. I am waiting to find out what that means and what’s next.
Above: Trey flying off the dock at my mom’s cabin into the water. Trey lives hard and full and as a result, sometimes crashes and burns!
