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2025
SPATA Foundation Family Conference
We had an absolutely incredible time at the very first SPATA Foundation Family Conference in Boston! We want to thank everyone who had a role in making it possible and thank all the families who made the trip to attend.
We will be sharing resources below so that others can learn from our experiences as well.
11 Families Represented
11 SPATA Kids Present
53 Total in Attendance
PRESENTATIONS
Coming Soon
Burju Sari, Teacher of the Visually Impaired | Cortical Visual Impairment
Tapas Mukherjee | Postdoctoral Student, University of Toronto Research
MATERIALS & INFO COMING SOON
Questions & Answers
Questions asked throughout the conference with answers
As our child’s abilities to do stuff changes, should we go back into the Patient Registry and change an answer?
Yes! The point of the Patient Registry is to track the disorder over time. Please feel free to update answers and upload new tests and results over time. For example, if you get a new MRI next year feel free to upload it. The Patient Registry does not have to be completed in one sitting. You can log in and update at any time.
Any and all data is helpful.
We have a lot of researchers doing their own research, how do we bring them together?
This is a question I’ve been asking myself! The SPATA Foundation is hoping to facilitate a Scientific Roundtable discussion in 2026 with all known SPATA5 and SPATA5L1 researchers to figure out what our gaps are in research and how they can all collaborate towards the same goal of helping our kids.
It isn’t as simple as it may seem when there are various institutions/universities/facilities at play with NDAs, protocols, etc. With that being said, these researchers are aware of each other and it’s actually a good thing they’re all working on different components.
It’s been said that Gene Therapy will cost millions of dollars, but as it’s becoming more common has that changed?
The short answer is no. In the end, developing all the tools needed to create gene therapy, getting it pre-clinical ready, proving it works, then running a clinical trial will result in millions of dollars.
While we are seeing more and more gene therapies, it’s still not “common.”
Gene therapy development will happen in stages with the first few stages being less money and most likely funded by us. As we get further in the process towards trials, that’s where the multi-million dollar funding will come to play. We can worry about that when we get there!
Will gene therapy happen?
Eventually, yes. Gene therapy is possible. The genes are small enough to fit in the viruses they use to deliver the therapies. However, it won’t happen tomorrow. There are a lot of building blocks prior to developing gene therapy.
The good news? I think we’re almost there. I’m in discussion with three different groups about developing gene therapy. We’re working on finalizing details, getting quotes, and timeline options before determining who will help us do this.
I see gene therapy for hearing loss, can we use this gene therapy?
Current gene therapies on the market have been developed for other genetic hearing loss disorders. Gene therapy has to be specifically made for each individual gene, so no, gene therapies currently on the market for hearing loss will not work for our children.
The science, however, would work. We just have to develop it for our specific genes. Also please keep in mind that gene therapy for hearing loss cannot be used on patients who have cochlear implants.
Another component to gene therapy for SPATA5 and SPATA5L1 is the neurological aspect. Gene therapy for hearing loss is MUCH different than gene therapy targeting the brain, which is where we’d have to target. We have to make the gene therapy cross the blood-brain-barrier or figure out where we can inject it to affect the brain (like cerebral spinal fluid or directly to the brain).
What age can kids have gene therapy?
Gene therapies are currently being given to people of all ages. However, each gene therapy is different and each clinical team is different. We don’t know who may or may not be eligible. Gene therapies targeting neurological disorders are best when given as early as possible (birth or prior to birth) to avoid any damage before it occurs, but gene therapy is actively being given in children and adults. Our goal is to treat as many as possible.
PHOTOS
Have more photos from the conference? Email them to info@spatafoundation.org
SPONSORS
Thank you to our sponsors who made this conference possible!
THANK YOU TO EVERYONE WHO MADE THIS A SUCCESS
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