A Message from Mariah George, Founder & Director
Hello SPATA Families! I understand I throw a lot of information out, so I'm going to make a long post and try to explain the things we're working on in detail!
Please never hesitate to reach out or ask questions! The SPATA Foundation is for ALL SPATA families!
Please understand on top of The Foundation, I am a mother to Luca and I also work full time. I try my best to keep everyone updated, but a lot of what I do is emails/calls/meetings. My main focus right now is starting the projects geared towards a treatment/cure.
We've been able to make a lot of progress in just a few months, and we have lots of things in the pipeline!
Foundation & Fundraising Information
US Donations
Anyone in the United State can make a tax-deductible donation on our website https://www.spatafoundation.org/. EIN# 93-3768682
International Donations
It's come to my attention that we have many international families/companies who would like to make donations, but as we're registered in the US, foreign countries are not tax-exempt. We are working on a way to allow international donations to be tax-exempt, we will let you know as soon as we've got this set up.
Personal Fundraising
We encourage you to do your own fundraising for The SPATA Foundation! Maybe it's a Fundraiser night at your local pizza place, or a bowling tournament, every penny counts! We encourage you to share your child's story in fundraising & spreading awareness in general.
When hosting your own fundraiser, please use The SPATA Foundation's official donation link (https://www.zeffy.com/en-US/peer-to-peer/71e42ad8-08c5-4a7e-80f0-46e015ccecc9), as it is already set up to be tax-deductible. US is active, International is coming soon.
The only thing we ask is that you please fill out a request form & use agreement to use The SPATA Foundation logo in any materials. Please understand that The SPATA Foundation is a registered non-profit and we have to ensure we protect The SPATA Foundation.
Research Projects
The research can only move forward if WE help the researchers. All of these projects are going to require our involvement. We have to help them so they can help our children. When I ask for engagement or information, please keep in mind that it's because we need as much information as possible to help our children. Your participation is obviously not required, but is very encouraged and very appreciated.
I have done extensive reaching out. From people all over the US, across the ocean, I'd reach out to aliens if I could! The people I'm currently in contact with are people we know have studied these genes and are actively studying these genes, but we know there may be more out there. Feel free to do your own reaching out if you'd like. If you have doctors you've spoken to that may be able to help, feel free to reach out to them. You can always include us in the emails if you'd like, info@spatafoundation.org.
The following items below are the various research projects and initiatives we have going on. I'm turning over every stone, and ensuring we look into multiple avenues.
Mouse Models
Mouse Models are essential for any further research. Jax Labs has agreed to create two CRISPR engineered mouse models: one for SPATA5 and one for SPATA5L1. These are fully funded through a grant from the NIH. These mice will be genetically modified to have variants like our children. They will take about a year to engineer before they're ready for research, but once they're ready researchers all over the world will be able to access them!
I'm not sure if we will get updates throughout the process, but if we do we will let everyone know!
Patient Registry
A Patient Registry is a building block for future research. We will be hosting our Patient Registry through CoRDS. CoRDS provides a secure way for participants to share their data (with personally identifiable information removed) with researchers. We will gather things like symptom onset & severity, medication/treatments that work or don't work, imaging & testing history, and more.
It will be useful for us as parents and accessible to researchers around the world. This should be coming in the next month or so, and will be very important for everyone to participate in.
Drug Repurposing Project
Drug Repurposing (also known as drug repositioning) is a process of identifying new therapeutic use(s) for old/existing/available drugs. Over the years, researchers have found drugs that were created to treat one thing work for something else. For example: Topiramate was originally created as an epilepsy treatment. It’s still used as an epilepsy treatment, but they also found it can be used to treat certain types of obesity. So, Topiramate was repurposed and is also now used for obesity treatment.
Drug Repurposing is now being applied to rare diseases. There are a handful of companies in the US doing drug repurposing research specifically for rare diseases so they can find treatments quicker & cheaper. Keyword is treatment, this will not be a cure.
This is a private project, meaning we are fully funding it. It's not done through an academic institution, we are paying for this service. Our plan is to use a company called Unravel Biosciences.
On top of the sample kits, Analysis and Initial Drug Screen Against Patient Samples
will cost $14,000. Development of SPATA5 and SPATA5L1 Genetically Modified Tadpoles will cost $65,000.
Here is the process:
Collect Patient Samples
In order to get the best results, Unravel needs patient samples! They need a minimum of 4 SPATA5 and 4 SPATA5L1 Nasal Swabs to analyze. Families can purchase a swab kit for $1350. A kit will include swabs for the patient and an unaffected parent or sibling of the same sex. Kits are available internationally. We are not gathering money for the kits yet, but once we do you will pay the money to The Foundation and we will order the kit for you. You will also need to supply your child's genetic report. Please understand, if you do not submit a sample, you will still benefit from this study. However, submitting a sample means your child's data will be studied, thus it being more likely whatever treatment is found would work for those who's samples were submitted.
Analyze Patient Samples & First Screen
Once all samples are received in the lab, Unravel will use the samples to predict patient-specific therapeutic mechanisms (drugs & compounds). They will take thousands of drugs already FDA-approved and on the market, plus individual compounds, and test them. The data from this analysis will result in data supporting one or more molecules for further testing.
Create Tadpole Models & Test Top Candidates
Utilizing protocol from UMASS Boston, Unravel will create CRISPR-engineered tadpoles to represent SPATA5 and SPATA5L1 patients. They will then take the predicted list of therapeutics from Step 1, test them on the genetically modified tadpoles, and monitor how characteristics associated with the diseases change with treatment (seizures, hearing loss, motor function, dystonia/spasticity, etc). Why tadpoles? Mice are the preferred animal model, but tadpoles are a close second. Tadpoles are genetically very similar to humans, but cost much less than mice and take a lot less time to engineer. They will be able to see physical symptoms in tadpoles, much like what we see in our kids, to truly get a good understanding of how certain drugs/compounds work. Depending on what the top drug candidates are and what they cost, there may be some additional costs associated with testing them on the tadpoles.
Treatment!
Depending on what drug(s)/compound(s) are found to be a potential treatment, there are a few ways that patients may be able to begin treatment. A doctor may be able to prescribe the drug, we may have to ask the FDA for compassionate use, or, if necessary, further testing may have to be done. If no drug is found, but individual compounds are found, Unravel Biosciences can work on engineering a NEW drug, specifically for treatment.
Questions
Will the kit be covered by insurance? No. This is not a medically necessary test and will not be covered by insurance. Those who would like a kit will need to purchase it out-of-pocket. We decided it would not be fair for The Foundation to fund the 8 kits and us pick who got them.
How long will this take? We have to fund half up-front to start the project ($36,800). One it begins, the project will take approximately 5-6 months.
Who is Unravel and does this work? Unravel Biosciences is already seeing success. They harnessed patient RNA data to uncover a promising breakthrough for Rett Syndrome in just one year, discovering a new therapeutic mechanism that can be engaged using an existing prescription drug. The discovered novel therapy surpasses the only approved drug in mouse models and is poised for upcoming clinical trials. Unravel has repeated this approach with other neurodevelopmental and neurodegenerative disorders. YES, this project is real & works.
More questions? Shoot me an email anytime! info@spatafoundation.org
SPATA Clinic
Dr. Michael Kruer has researched SPATA5 and SPATA5L1 and is working on setting up a designated SPATA Clinic in Phoenix, Arizona, USA that would allow our children to be seen by specialists knowledgeable in SPATA5 and SPATA5L1.
A designated SPATA Clinic would provide a way for SPATA5 and SPATA5L1 families to be seen by multiple specialists with expertise in their child’s disorder (instead of “What’s it called again?”), such as Neurology, Developmental Pediatrician, Genetics, Seizure Management, Hearing, and more and it would grow over time.
It would provide an additional means to connect families to research and to each other. It would provide a means for skin biopsies or other research samples to be collected and hopefully soon, a place to launch clinical trials. It could link to the natural history study. It would ensure the doctors and researchers are hearing directly from families what their biggest concerns and priorities are, helping grow the community.
This is something Dr. Kruer is working on, but he's hopeful we may be able to set it up by the end of 2024.
Deep Phenotyping Natural History Study
Dr. Michael Buszczak (UT Southwestern, Texas) along with Dr. Henry Houlden (UK) and Dr. Barbara Vona (Germany) previously published this paper on SPATA5 and SPATA5L1. They are planning to conduct a large natural history study to characterize how these disorders affect our children over time.
Once they begin recruiting, we will inform everyone.
Unraveling the Etiopathogenesis of SPATA5/SPATA5L1 Polymorphisms-Associated Clinical Manifestations
Tapas Mukherjee and Dana Philpott from University of Toronto, Canada are ready to start recruiting for their research project: Unraveling the Etiopathogenesis of SPATA5 / SPATA5L1 Polymorphisms-Associated Clinical Manifestations.
What does that mean? Research focused on the overall cause of the disorders. We know the mutated genes cause everything, but what happens when these genes are mutated? What function is interrupted? Tapas & Dana are setting out to solve this question, but they need OUR help!
We encourage everyone to participate! It will involve gathering medical records, blood samples, and they may do some skin samples in the future as well.
If you'd like to participate, PLEASE follow these steps:
Email Tapas Mukherjee at tapas.mukherjee@utoronto.ca with the subject line "SPATA Research" and tell him you'd like to participate in his SPATA5 and SPATA5L1 research.
Tapas will send you additional information on the study & a consent form to sign. This consent form will allow their institution to contact you and your doctors. We recommend giving contact information on your Neurologist, Geneticist, and Primary Care Physician. You're welcome to include any other doctors you feel are essential to get a complete history.
Once you have the form filled out, please email it back to Tapas.
Gene Therapy
Probably something everyone is curious about: Gene Therapy. Gene Therapy is the ultimate goal, but there are a lot of factors that go into gene therapy. Can gene therapy physically be done with these genes? We know the answer is yes which is great! When and how should the gene therapy be delivered? That’s a question that needs more research. But, the major hurdle is funding which will be millions. With that being said, we are in discussion with 2 universities who are interested in working on gene therapy for SPATA5 & SPATA5L1, but it would be a long-term future goal. The drug repurposing project is a much more attainable, affordable, and quicker treatment option for now.
One of these groups has already been studying SPATA5 and is planning to publish some new data soon.
Partner Families
I'm working on setting up a program called SPATA Foundation Partner Families. Being a Partner Family would be a way for SPATA5 and SPATA5L1 Families who wish to be more involved a way to do so. There are a lot of foundations that do this.
This will simply be something you sign up for, no cost. Becoming a Partner Family allows a way to spread the mission of The SPATA Foundation in honor of your child(ren). We would supply Partner Families with informational and custom materials, strategies, and continuous support for sharing your story.
I am not ready to launch this yet, because in all honesty I'm focused on getting the research projects up and going.
As always, please don’t hesitate to reach out or ask questions. I know this is a lot, but that’s because we’re doing a lot!
The things we’ve been able to accomplish in just a few short months is incredible. I encourage everyone to share your child(ren)’s stories on social media & share the things The SPATA Foundation posts. All it takes is one person to see it and share & make things go viral.
Much love,
Mariah & Luca