The First MEPAN Research Project
Thank you to everyone who has donated to my birthday fundraiser on Facebook. We are so grateful for your generosity and support as we work to find treatments that can help Carson and Chase.
It’s a strange time for us. Like everyone else, we are doing our best to handle the COVID-19 situation, which touched us on very personal level with my dad’s passing last month from COVID-related illness. Yet we are close to launching the first MEPAN research project, which may help doctors understand MEPAN better and uncover a treatment that can improve MEPAN symptoms.
The Back Story
I’ve been contacting researchers and scientists and scouring medical literature since 2012. At first it was to try and find a diagnosis for Carson and Chase. After getting that at Stanford in early 2018, it was to try and find treatments that could help the boys and the other MEPAN patients.
One of the first companies I contacted in Spring 2018 was Perlara, a biotech startup founded by Ethan Perlstein and partially funded by Mark Cuban that was focused on discovering treatments for rare diseases. Perlara used CRISPR gene-editing to create animal models in yeast, flies, or worms that mirrored the human disease. They then used those models to test thousands of FDA-approved drugs that might help treat the condition.
Perlara’s approach had several advantages: using simple animal models is easier and faster than studying a disease in mice or other mammals, and the models can work well for conditions like MEPAN that involve genes and biological processes that are “highly-conserved” (pretty much the same across all species). Screening drugs that are already FDA-approved means that scientists know how safe the drugs are and how they work in the body, and re-purposing an existing drug is FAR cheaper than developing a new one. Drug development is extraordinarily expensive, and companies can easily spend hundreds of million dollars to develop a new treatment.
I didn’t end up working with Perlara at the time, but Ethan and I stayed in touch and he reached out several months ago to let me know that the genetics team at the University of California-San Francisco (UCSF) wanted to pursue a research project that would help find rare disease treatments using animal models. This was an unbelievable opportunity, and one that we immediately wanted to try and help fund. It can take years to get to a clinical trial to test a new treatment for a rare condition like MEPAN, and this project could potentially do that for Carson and Chase in only 12 months.
The Next Steps
So we are now raising money to help fund the project, which will cost about $100,000 and should begin in the next 4-6 weeks once the proposal is finalized and the UCSF team is in place. The research is divided into a number of steps:
Develop yeast models with genetic mutations that mirror those causing MEPAN.
Engineer skin cells taken from Carson, Chase, Nikki and me to use as research controls.
Screen thousands of FDA-approved drugs and natural compounds in the lab to see if any can ‘rescue’ the disease symptoms in the yeast.
Validate any findings in the skin cell models to help make sure they can work in patients.
File paperwork with the FDA for a clinical trial to test the drugs in Carson and Chase.
Secure regulatory approvals for the treatment protocols that ensure safety.
How would a drug or medicine help Carson and Chase? Ultimately no one knows for sure, since this is the first project to examine potential MEPAN treatments. We hope that it would make their coordination better and help them move their bodies more normally. For Carson it might mean that he can feed himself more easily or use an iPad to communicate. With Chase it could mean that he can sit more independently or even push his own wheelchair. I was told that good science takes time, and there’s always the chance that this project may not yield any treatments, but it's the next step in our journey. Thank you for helping us move it forward.