top of page
SPATA Families


The SPATA Foundation is actively driving research for our SPATA kids and new projects that will be valuable tools for research! Check out what we've got in the pipeline & how you can be involved.


Unraveling the Etiopathogenesis of SPATA5 / SPATA5L1 Polymorphisms-Associated Clinical Manifestations

Investigating the underlying cause and development of a SPATA5 and SPATA5L1 Related Disorders and the function of the genes.

Natural History Study

Deep phenotyping and natural history of AFG2A (SPATA5) and AFG2B (SPATA5L1) Disorders

Through a collaborative, multidisciplinary effort, we aim to delineate the natural history and potentially exploring functional studies through identification of additional families.

Dr. Michael Buszczak,PhD (UT Southwestern)

Dr. Henry Houlden, PhD (UCL Queen Square Institute of Neurology)

Dr. Barbara Vona, PhD (Universitätsmedizin Göttingen)

This project has not started yet. Please check back or watch the Facebook groups for updates. Join our Facebook group HERE.

Patient Registry

Coordination of Rare Diseases at Sanford (CoRDS)

A centralized international patient registry for all rare diseases. This will be an official place to gather patient data like symptoms, medications, treatments, imaging, testing history, and more. Having all this data in one place will allow researchers easy access to the data they need to further this research.

This project is anticipated to launch May 2024. Please check back or watch the Facebook groups for updates. Join our Facebook group HERE.

Animal Models

Mice & Tadpoles

Animal models are essential for medical research because they can mimic aspects of a disease found in humans. Mouse models are the gold standard in genetics. Two mouse models are being generated, one for SPATA5 and one for SPATA5L1.These are fully funded through a grant from the NIH. 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!

Designated SPATA Clinic

The SPATA Clinic - Phoenix, Arizona, USA


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 ensure the doctors and researchers are hearing directly from families what their biggest concerns and priorities are, helping grow the community. We hope we can launch this by the end of 2024.

The Designated Clinic is not yet ready. Please check back or watch the Facebook groups for updates. Join our Facebook group HERE.

Drug Repurposing

Predicting and Evaluating Drug Candidates for SPATA5/SPATA5L1

Drug Repurposing (also known as drug repositioning) is a process of identifying new therapeutic use(s) for old/existing/available drugs.

This is a private project The SPATA Foundation has decided to invest in. Click "Learn More" to see the details of the project.

Kenley  SPATA5
Screenshot 2024-05-04 at 11.04.13 PM.png
Ella  SPATA5

help us find a cure


The SPATA Foundation is on a mission to find a treatment that will enhance the lives of those affected by SPATA5 and SPATA5L1. 

The science exists, but it takes time and money. 

Your donation gets us one step closer.

bottom of page