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Over the past year, we have spent numerous hours on research, starting a 501(c)3 non-profit, smashSMARD, creating a website (www.smashsmard.org), creating a NORD registry (which will provide a natural history of the patients) and really narrowing down our plan to move forward with a treatment/cure. Up to this point, nothing has been as exciting as the next step in this journey for our family and all of the other families impacted by this horrific orphan disease.
On November 12, 2018 – Bobby, Blake, Nash and I had the opportunity to visit The Center for Gene Therapy (formerly Kaspar Lab, now Meyer Lab) in Columbus at Nationwide Children’s Hospital. This is the lab that has brought gene therapy to the market for the traditional Spinal Muscular Atropy (SMA), and is currently undergoing FDA approval process for their AAV9 gene therapy. (To read more, click here: http://www.curesma.org/news/avexis-fda-approval-type-i.html).
During our visit, we were able to have a roundtable discussion with Dr. Kathrin Meyer, Principal Investigator, and the scientists in her lab regarding SMARD1. We were taken back by the amount of time they spent with us (literally ALL DAY), and the fact that they were passionate about taking on as rare of a disease as this. While we were introducing ourselves, I of course, became highly emotional. I looked across the table to see the tears in Dr. Meyer’s eyes and her drive to do whatever she can to help. It was from that moment, that I KNEW she had a sincere desire to help. There were around 10 people in the room, and each person was as impressive, passionate, educated and enthusiastic as the last.
While we visited the lab, we were able to see pictures of families on the desks of these researchers. Families who are impacted by horrific diseases, and was told that “these pictures are what keep us going on a bad day.” We were able to look at skin cells under microscopes, and really gain a hands-on understanding as to what these amazing researchers do all day, every day in hopes that they will impact the lives of all of these victims.
After we left the lab, we headed to lunch and continued the “real” discussion there. About how we can make this happen and what the next steps forward are. As you can imagine, to develop this technology, cost of staffing and being held accountable to strict and tight protocols, the cost is high. Nationwide Children’s will be working in collaboration with Dr. Stefania Corti at University of Milan in Italy. The goal by collaboration would be to make things happen more quickly with an all hands on deck approach, and to also provide hope (hopefully) to patients overseas. Dr. Corti has spent a substantial amount of time on the phone, emailing and conference calls with me, and I feel very fortunate to have her on this team as well. She has also released promising data in mice who are affected by SMARD which will be useful in progressing research. (To read more, click here: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4568910/)
With all of that said, our goal (in the next 12 months) is to raise $3 million to support pre-clinical work on SMARD1 gene therapy programs on the path towards a portential clinical trial by supporting a team of collaborating researchers. Every single penny will be spent towards the next steps of funding research to reach clinical trials. This is an opportunity to make an impact on a disease NOW and progress treatment for kids like Nash in the very near future.
Dr. Meyer’s lab focuses on studying disease mechanisms in neurodegenerative diseases. Her lab has a strong translational focus in her projects with the goal to move additional programs towards clinical trials. These projects include the optimization of delivery strategies and evaluation of efficacy and targeting of various areas of the nervous system with gene therapy. She also has experience developing intrathecal gene therapy programs for several neurodegenerative diseases including Spinal Muscular Atrophy and Batten Disease. Her commitment to these rare diseases is impressive, and we are so grateful to be fortunate to have gained her interest.
So, in honor of Nash’s 2nd birthday, we are asking for serious consideration in donating and passing it on. It is with our community of friends and family and extended network, that we will make these dreams a reality (and quickly). We now have approval of our 501c3, so our donations are tax deductible! Please also visit our brand new website: www.smashsmard.org. Like our page on Facebook. Share our story!
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