APRIL 2026 ANNOUNCEMENTS

2025 Annual Report

We are happy to report that 90.9% of funds from 2025 were directly spent on research. We want all our supporters to have full confidence in where their funds are going and ensure the impact of your support is felt.

We wouldn't be where we are today without the financial support we've received. Rare disease research has very little funding, which means the funds and push has to come from us. We're very proud of all we accomplished in 2025 and look forward to what 2026 brings. We're even more excited to announce we have unused funds from 2025 we can already allocate towards research for 2026.

We will continue fighting for everyone affected by SPATA5 and SPATA5L1 Related Disorders and have some amazing things in the works for this year. Our journey to a cure cannot happen without financial support.

View the 2025 Annual Report HERE.

Unravel Drug Repurposing

While doing the drug screening, it was discovered that there’s two groups of patients and they respond to completely different medications. However, it’s not SPATA5 vs. SPATA5L1.

Our next step is to figure out what the differentiating factor is so we can determine what group a patient would fall into for treatment. This is VERY important as each child will need a tailored treatment. While this is being done, they are working on testing the projected medications on the tadpoles.

A new update should come in May 2026.

Once all screenings are done they will provide us with a report where we can then release information to families about what they've found.

ASPATA Spain

Our Spanish Organization, ASPATA 5, has recently announced an exciting research project!

Researchers from the Pablo de Olavide University and the Andalusian Center for Developmental Biology are leading an innovative project seeking personalized therapies for SPATA5 mutations, driven and funded by the affected families.

The project will identify and test approved drugs directly on living cells from SPATA5 patients to assess whether mitochondrial function can be restored, with further validation in patient-derived neuronal cells. The idea is that each patient gets specific tailor-made drugs. So it’s a more functional, personalized lab-based screening approach, which feels highly complementary to the important work already being done in the US.

Questions can be directed to ASPATA 5.

2026 Updates & Goals

Lots of exciting things are in the works for The SPATA Foundation!

SPATA Family Network

We’re in the progress of creating an online database where families can officially have their child(ren) counted as a diagnosed case with The SPATA Foundation. This online database will allow us to keep constant contact with families regarding important research and announcements.

This will be a simple database just to track cases internally and is separate from the Patient Registry. This is a huge step because currently it’s all in a manual Excel spreadsheet…

SPATA Family Stories

Along with the SPATA Family Network, those who sign up will be given the opportunity to share their stories on our website!

Updated Website

We’re updating The SPATA Foundation website to make it easier for families, researchers, and supporters to find the information and resources they need. The refresh will improve navigation, highlight the latest research tools and programs, and showcase our community and family stories, so everyone can stay connected and engaged with our mission.

Pipeline for Newly Diagnosed Families

Included in the new website will be a pipeline for Newly Diagnosed families. Newly Diagnosed families will have a list of things they can do with their new diagnosis and will receive a welcome email with all kinds of informaiton when they sign up for the Family Network.

New Donation Platform

We’re implementing a new donation platform that will allow for easier tracking of donors and a better way to touch base with past donors.

Drug Repurposing Updates

The Drug Repurposing project hit a bit of a speedbump when two subgroups were discovered, so we had to send the tadpoles off for some additional testing. The tadpoles have been received and we should have a better update in about 2 weeks.

Biorepository

We’re starting to work on building a Biorepository (bank of blood samples for research). Our first samples will be given via the Combined Brain Roadshows as a free way to build our Biorepository.

New Research Collaboration

Stay tuned for what will be our biggest announcement of 2026: a new and very exciting research collaboration to accelerate research for a CURE!