Hi everyone! I wanted to post some updates for the new year. Yes, I know it’s already February😅 Please forgive me, I got a new job, underwent Egg Retrieval for IVF, Luca and I both battled RSV, and now we’re ending a 3 week intensive therapy session for Luca.
First I want to highlight updates from some projects we’ve been talking about:
Rare Disease Day
Rare Disease Day is February 28th! This is an international campaign that brings attention to rare diseases and we need to capitalize on that. I’d love to create a video but I NEED YOUR HELP.
Creating a video for Rare Disease Day gives us a better chance of going viral/getting attention.
What I need from YOU: a simple video of you with your child/children saying “This is Luca, he is RARE” or if your child is able to speak they can say “I am Luca, I am RARE.” You can message me the video, email (info@spatafoundation.org) or upload them here: https://forms.gle/dxc9mKkhZcSwMQbK8
Drug Repurposing
The tadpoles have been genetically modified and are showing the same symptoms that our children do, which is a great sign. The analysis of the patient swabs is completed and there is a list of drugs and the % chance they could help. Unravel has taken all this information, averaged it out, and has come up with a list of top potential drug options. The doctors that have knowledge in SPATA5 and SPATA5L1 have helped us choose which 5 to test in the tadpoles. I notified Unravel on 2/7 about our choices, so testing the drugs on the tadpoles should be starting soon!
Once testing begins they said it will be approximately 12 weeks for results (looking at sometime in May maybe).
The project has taken a bit longer than intended, but that's science & unexpected delays for you!
Mouse Models
They are currently in the 2nd round of expansions for SPATA5 mice. They are currently getting ready to start mating SPATA5L1 mice. SPATA5L1 mice are a little bit behind the SPATA5 mice.
SPATA Conference
I would still very much like to host a SPATA Conference, in fact we received a $5,000 grant from AMGEN specifically for education/advocacy to help do this. I previously discussed Arizona, however, I’m thinking it may be better to host it somewhere on the east coast where more families would have the opportunity to attend. Potentially Boston (where Unravel is) or Philadelphia where Dr. Greenberg is. I'm waiting to hear back on how Dr. Greenburg may be able to work with us if we have it there, but I'm hoping to try for maybe August/September in Boston or Philadelphia, with more details to come.
The focus on this conference will be for the families. Prior to the conference, we will have a virtual roundtable for our researchers and then that information will be presented at the family conference. Depending on what's available, we might be able to take some samples of families who attend.
I know I’ve been talking about this for a while, but I promise it's in the works! I have to hear back from Dr. Greenburg before determining the location. But please start thinking about if you would realistically be able to attend a conference in Boston/Philadelphia this fall. I would love to be able to pay for everyone to attend, but unfortunately that's just not doable. If you can come great, if not we will also record it all.
International Updates
SPAIN: Aspata5 is our Spain-based sister organization. They are a registered organization in Spain.
CZECH REPUBLIC: Two SPATA5 families from The Czech Republic have created an organization there and have signed a contract with the Czech Centre for Phenogenomics to assign a full-time researcher to look into a long-term treatment for our children whether it be drug therapy, gene editing, or other potential options. The first phase is developing a therapeutic concept.
NETHERLANDS: A family in the Netherlands helped us get ANBI status in the Netherlands which allows for tax-exempt donations to be made. People in the Netherlands can donate and get a tax exemption with our ANBI Number: 827593983.
Family Meetings
I’m thinking I may start a SPATA Social Hour where there's an hour slot dedicated each month where people can join as desired. This schedule would be on the website, and you just sign up if you plan to join. Just a way to talk, rant, ask questions. I would probably alternate the time every other month to allow all countries to have an opportunity every other month.
2025 Goals
PATIENT REGISTRY
I’d love for more families to fill out the Patient Registry. I know this is a very long task, but it’s important to gather data from our children. Please, if you can, find some time 30-45 minutes to sit down and fill this out about your child’s medical history. You can also begin it and come back to it at a later time.
This is highly valuable data to gather for future research. You can register now at https://www.spatafoundation.org/registry
LONG-TERM THERAPY OPTIONS
I have a few upcoming meetings to discuss the potential for gene therapy. Please keep in mind, this is realistically 5+ years away and millions of dollars, but with our mouse models almost complete, new data from the drug repurposing project, and the researchers continuing to advance, I'm going to be further discussing this to see how we can maybe get the ball rolling.
BIOREPOSITORY
We might be able to utilize a public & free biorepository for fibroblasts where a kit can be mailed to your home for blood/skin samples. I'm looking more into this.
Additional Things I'm hoping to work on this year:
Adding resources to the website for things like grant, medical equipment, support groups, etc
New merch website with more options
As always, please don't hesitate to reach out with questions, comments, or concerns.
Mariah George