The Spinal Muscular Atrophy (SMA) Communities “Bucket List”

The time has come to thank the many families and groups that have come together as part of the 200 commitments for SMA. Your efforts have pushed a program forward at a pace that has rarely been seen in our disease community. The community should be extremely proud of what they have been able to accomplish. Last year at a research conference I remember a representative of a panel state that a smaller organization could never fund any of these programs to the clinic. With your support………we have been able to accomplish some amazing things and let our actions speak for themselves. In December the Sophia’s Cure Foundation had the great priveledge of participating in a Pre-Ind phone call with the Food and Drug Administration, in regards to the Systemic Administration of AAV9 for Spinal Muscular Atrophy. This phone call helped to provide guidance for the AAV9 program and the march towards the clinic. We strive to provide accurate information to our community. As we reported last year an SMA Pig model was not necessary to get to human clinical trials. In fact, an SMA Pig model would have never fit into our rigorous timelines. Waiting for this model to emerge would have pushed this program back years. It has been our goal to provide a treatment for SMA children sooner rather than later. The program lead by Dr. Kaspar has undergone some of the most rigorous testing to validate safety to date out of all SMA programs. Over 100 animals have been tested which included Non-Human Primates. While some programs currently moving towards the clinic have reported a 5 day study in Non-Human Primates, the AAV9 program has completed 6 month safety studies in the Non-Human Primate which included animals that were treated from infancy to 3 years in age. It is important to point out that not a single animal whether it was a mice or a Non-Human Primate died from this treatment.

Last year we started a campaign “The 200 Commitments” for SMA. It was our goal to raise the necessary funding to move this program towards the clinic. This campaign was extremely succesful at reaching our goals. The 1 Million dollars was a projection of what it would cost to produce the viral load and the animal studies necessary under FDA guidance. We are ecstatic to announce to you today…………….that this program is fully funded to the clinic. With tight budgets, and a little negotiation we have been able to conserve expenditures. One of the greatest savings for this program was that the FDA was satisfied with our Non-Human Primate studies and did not require any additional larger animal studies. We were overjoyed with our conversation with the FDA and one can imagine how much money was saved by this decision. We are here to report to you today the completion of this campaign and would like to thank everyone who helped move this program along.

We are extremely pleased to report to you today more great news. The product we have been funding scAAV9 has just passed all screenings and validation in accordance with FDA guidelines clearing the way for its use in the final FDA studies. We have just received the lab results which clears this program to start the 6 month animal studies. The first cohort of animals will be injected in the next few days.

The Sophia’s Cure Foundation remains committed to see this program through. We are entering our final fundraising phase for this program. From this day forward we will be fundraising to pay for Phase 1 of the clinical trial………………That is right…….we will be fundraising to provide the funding for the actual treatment of SMA patients. Upon funding the next leg we will walk away and allow a Bio-Tech company to take over this program. Our grant agreements with Nationwide have been very efficient at conserving donor dollars. Not a single dollar from the Sophia’s Cure Foundation has been charged an Indirect. We are very pleased with the working partnership The Sophia’s Cure Foundation has with Nationwide Children’s Hospital. We look forward to bringing this therapy foward to the patient population.

A brief history of the AAV9 Gene Therapy Program:

Dr. Kaspar has specialized in the area of Gene Therapy for many years and one would find it difficult to find a researcher who has excelled in this field of research for as long. Dr. Kaspar began his work in the year 1991. For many years his work focused on ALS. By chance Kevin Foust Ph.D. discovered in 2006 a virus that effectively targeted Motor Neurons that virus was AAV9. In 2009 the lab decided to push forward with a program for SMA. When it was decided this program would focus on Spinal Muscular Atrophy the decision was made to bring on a researcher who specialized in this disease. Who better than Dr. Arthur Burgess. Dr Burgess has been an asset to this program since joining in 2009. As work progressed on this program and it became clear that this program would be marching towards the clinic Dr. Jerry Mendell was aked to join this program. Dr Mendell was a welcome addition with his many years of experience with the FDA and his expertise at getting programs to clinical trials. Together we believe this is the perfect team to move a hopeful program forward for SMA. As the talk for Bucket list has buzzed through the community we just want to add to it…that on Sophia’s Bucket List she wants what everyone in the community wants a cure for Spinal Muscular Atrophy.


  1. Teri Taylor says:

    FABULOUS news. I admire you so much; you have been a true leader in our fight to save our children. Stand tall and be proud!!!! THIS is what SMA parents should be focusing on, not trips to Mexico or anywhere else.

  2. Thank you, SCF! GOF will be making its 200 grant soon!

  3. Oscar hernandez says:

    Now THAT’s a bucket list! Universe conspires in our favor!!!!! CHEERS Little Princess Sophia, daddy is definitely making you proud!

  4. This is fantastic news. What a difference one family, one focus can make! I look forward to hearing more about the study outcomes–and eventually, a cure.

    Though as a tiny correction, you mentioned that you’re fundraising to make Phase 1 happen and that SMA patients will be included–that’s misleading. In the US, phase 1 clinical trials only includes healthy subjects who are in no way affiliated with the disease. Phase 1 is more to confirm that the drug therapy is not harmful in the healthiest of subjects, before being administered to subjects compromised with the disease in question.

    That said, I’m still thrilled to see this news! Amazing progress!

    • Cass I am sorry but you are mistaken. I am sure you are going from knowledge based on pharmacological IND applications. This application is for the Bio-Medical side of the FDA. As stated above Phase 1 will be an application for SMA Type 1 newly diagnosed patients. As a matter of fact Isis for the Oligo compounds is recruiting SMA patients now for their Phase 1 study. Here is the link

      We pride ourselves on delivering accurate information to the SMA community, and are happy to help clarify any misinformation posted to the community. I hope this helps Cassandra!

  5. Vinnie, you know you have our support and we look forward to raising a lot of money for this trial! Thank you for all you do in the SMA community!

  6. Cassie Stech says:

    THANK YOU SCF!!! You truly keep HOPE alive!!! We support you and the Gene Therapy Program 100%!!

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