Hi everyone,

 

Chris and I wanted to share an opportunity we've been exploring over the past several weeks.

 

As many of you know, while Logan and Iris continue waiting for an individualized ASO through Baylor and n-Lorem, we've also been exploring other potential treatment avenues that don't require waiting years for a custom therapy. One of those avenues is drug repurposing (identifying existing medications, and in some cases investigational compounds or other therapeutic candidates, that may have the potential to improve symptoms based on a patient's specific biology).

 

Recently, we've met with two organizations that specialize in this work, including rareShift. Their team uses genetic information and advanced computational analysis to identify compounds that may have therapeutic potential based on a patient's specific biology. These may include FDA-approved medications, investigational compounds, or other therapeutic candidates, depending on what their analysis identifies. Their role is to generate personalized treatment hypotheses that can then be evaluated by your medical team. This is not a guarantee that a treatment will be found, nor is it a replacement for ongoing work toward ASOs or other gene-specific therapies. Rather, it's another possible path that some families may wish to explore.

 

Our hope is not to choose between drug repurposing and gene therapy, but to pursue every scientifically credible avenue that has the potential to help individuals with SPTAN1.

 

To help everyone better understand the program, rareSHIFT has a short 9-minute overview video that does a great job explaining their approach:
🎥 rareSHIFT Program Overview

 

You can also learn more about the services they offer, including current pricing, here:

🔗 rareSHIFT Services & Pricing

 

Because several families have asked about cost, I want to be transparent that this is a self-funded program. It is a significant investment, and each family will need to decide whether it makes sense for them. Experiences like this are one of the reasons Chris and I have begun exploring the creation of an SPTAN1 foundation. Our long-term vision is to help families access promising opportunities, whether that's drug repurposing, natural history studies, clinical trials, or other emerging therapies, and to reduce some of the financial barriers that so often stand in the way.

 

One piece of good news is that rareSHIFT has offered our community a 15% discount if five or more SPTAN1 patients enroll together. At this point, we're simply trying to gauge interest to see whether we have enough families to qualify for that group discount.

 

A few important things to know:

• Participation is completely voluntary.

• Drug repurposing is not a cure and does not replace ASOs or other gene-specific therapies.

• There is no guarantee that a therapeutic candidate will be identified or that any recommendation will ultimately be effective.

• Any potential treatment would still need to be discussed with your child's medical team.

 

As Chris and I have met with researchers over the past several months, one thing has become increasingly clear: families with ultra-rare diseases often have to build the bridges they wish already existed.

 

Rather than having everyone ask questions individually, I also thought it might be helpful to host a Zoom meeting for anyone who is interested. Chris and I can share what we've learned from our meetings with the labs, explain why we're encouraged by this area of research, discuss what we know (and what we don't), and answer questions as best we can. If there are enough interested families, we can also invite a representative from rareSHIFT to join a future call.

 

If you're interested in learning more, please let me know. There's absolutely no obligation, again, right now we're simply trying to determine whether there's enough interest to move forward as a group and, if so, schedule a time to talk together.

 

As always, we'll continue sharing what we learn. We truly believe that while we wait for gene-specific therapies, it's worth exploring every scientifically credible path that might help our loved ones.

 

Thank you all for continuing to walk this road together.