The Science

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As of today, Doctors can easily diagnose SURF1 Leigh’s Syndrome. They know its precise cause. But until now, they’ve had no hope to offer affected children and families. In the course of human history, Leigh Syndrome has always been a fatal defect.

But there will be a time when medical history is marked by the advent of effective gene therapies. Perhaps we humans will note it in our timeline as BGT and AGT (“Before Gene Therapy” and “After Gene Therapy.”) That time is coming soon.

The goal of the research team at UT Southwestern is to effectually replace the broken SURF1 gene in children who are dying without it. They hope to do so within two years. Will’s doctors hypothesize that this gene replacement can be completed using the inherent qualities of virus cells. Related therapies have begun to shown promise in treating similar disorders such as muscular dystrophy.

The UTSW team will use a special virus called AAV9 which is safe for humans and lives within us all. In the lab, they will isolate healthy copies of the SURF1 gene, package them into trillions of AAV9 virus cells, and then inject those cells via spinal tap into the children selected to participate in the FDA-approve human trial. The potentially life-giving dose of cells will be a one-time shot of less than two teaspoons! (This type of therapy requires no fetal or stem cells.)

The money raised by the One Day for Will campaign will directly fund two basic, but crucial research steps.

  1. Pre-Clinical. The researchers will show that the proposed therapy is feasible and safe in the mouse model of the disease (i.e. in mice likewise lacking the same gene as Will). They will establish a colony of SURF1 deficient mice in the lab; assess for safe and efficacious delivery of the viral vector and the SURF1 cargo to the mouse central nervous system; and assess the effectiveness of the treatment in the mouse. (Specifically, the team will test whether the brain energy metabolic defect that results from absence of SURF1 is corrected, at least in part, in the mice receiving the gene replacement.)
  2. Human Trial. If the team is able to show that the treatment works (even partially) in the mouse model of the disease, and also that it does not cause harm, they will obtain permission from the Food and Drug Administration to initiate a human clinical trial.

RESEARCH COSTS

If you donate to the One Day for Will campaign, your money will help pay for the following items, and more.

  1. Raw materials and prep work for AAV9/SURF1 vector:  cost $800k​
  2. Manufacture of the clinical AAV9/SURF1 vector:  cost $800k
  3. Conducting the FDA-approved human clinical trial:  cost $1M

NO GUARANTEE

Will’s family has accepted the following risks. We encourage donors to do the same.

  1. Will may not survive to participate in the human trial.
  2. Even if he is surviving at the time of human trial, Will may not be accepted into the study based on his medical condition at that time.
  3. The pre-clinical research may not show efficacy.
  4. The treatment may only halt or slow the progression of the disease rather than curing it. Or, it may have no effect.

WE’RE GIVING, REGARDLESS

If there is no guarantee, why give?

  1. Even if Will doesn’t make it into the human trial, other children like him will receive the treatment if the pre-clinical work shows promise. Each kid and family affected by this devastating disorder is just as valuable and special!
  2. Even if the pre-clinical research does not show efficacy, what the researchers learn through this study will advance gene therapy science. Every lesson learned brings us closer to future treatments and cures.
  3. Even if the treatment only halts or slows the disease progression, it will buy time for Will and every child like him. The researchers may not be able to find a cure within two years, but they may be able to in the next phase of their study! We want to give Will the time he needs to experience that cure.
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