Patient Registry
Our international Patient Registry is LIVE through CoRDS.
This is an important first step in gathering valuable data about symptoms and disease presentation. Families from any country can register.
You will create an account and be able to log in and update/change things at anytime. 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.
This is highly valuable data to gather for future research. You can register now at https://www.spatafoundation.org/registry
Medical & Scientific Advisory Board
The purpose of the Medical and Scientific Advisory Board (MSAB) is to support the mission of The SPATA Foundation by providing guidance and direction in regards to translational and clinical research, therapeutics, and relevant medical topics. The MSAB will be composed of appointed Advisors who have credentials, training and/or expertise, and interest in SPATA5 and SPATA5L1 Related Disorders that qualifies them to provide medical and scientific guidance and assistance to The SPATA Foundation.
Our current members are the following:
Tapas Mukherjee, Postdoctoral Fellow - Immunology, University of Toronto
Michael Kruer, Pediatric Movement Disorders and Neurogenetics, Phoenix Children’s Hospital
Michael Buszczak, PhD - Dept. of Molecular Biology, UT Southwestern
Barbara Vona, PhD - Institute of Human Genetics, Institute for Auditory Neuroscience, University Medical Center Göttingen
Etiopathogenesis Study
Tapas Mukherjee and Dana Philpott from University of Toronto, Canada are working on their project: Unraveling the Etiopathogenesis of SPATA5 / SPATA5L1 Polymorphisms-Associated Clinical Manifestations. We are working on collecting blood and skin samples, but its proving difficult with international shipping hurdles and IRB protocols.
I will personally reach out if we're able to coordinate collection. It is a work in progress.
Mouse Models
The early phases of the project will include a targeting design phase, a CRISPR engineering phase, and a colony expansion phase. These steps each take 3-6 months to complete, and we estimate it will take approximately one year before the models will be fully established. (Estimated January/February 2025).
As of October 2024
For Afg2a (SPATA5), after CRISPR, the variants are successfully passing through generations.
For Afg2b (SPATA5L1), we unfortunately did not get any founders on our first attempt. We tried a second time, and three mice were born on 9/22. We’ll begin sampling for genotyping when they are about 3 weeks old.
Drug Repurposing Project
We launched a very exciting Drug Repurposing Project with Unravel Biosciences on April 26th. This is a multi-phase project that will trial FDA-approved drugs, small molecules, and drugs in clinical trials against SPATA5 and SPATA5L1 to hopefully find a potential treatment option.
As of October 2024, they have officially been generating tadpole models and phenotyping the symptoms and characteristics they see.
The overall goal of the drug repurposing project is to find a quick viable treatment option to act as a way to reduce symptoms until Gene Therapy can be achieved. Or as a treatment alternative if gene therapy is not an option due to money, availability, or health.
We officially have raised enough funds to pay for the project!
Designated SPATA Clinic & Conference
Dr. Michael Kruer 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 and also serve as a space for clinical research.
We're also looking at hosting some kind of conference, maybe in Phoenix or on the East Coast. This is something we're continuing to discuss.
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.
They are wanting to utilize our Patient Registry for the study, so please fill out the registry at https://www.spatafoundation.org/registry
Future Goals
Brain Research
There is a doctor from Nationwide Children’s Hospital in Ohio, USA that has been studying the brain of a deceased SPATA5 patient. We’re hoping we can learn more about his research later this year when he publishes data and potentially collaborate with him on further research.
Biorepository & Brainbank
I hope to set up a biorepository to store patient fibroblasts and IPSCs for research. We would also like to start a brainbank so that any families who lose a SPATA5 or SPATA5L1 patient may donate the brain for research if they choose.
Gene Therapy & Other Therapy Options
Our ultimate goal is to find a cure. Whether that’s gene therapy, mRNA Therapy, ASO Therapy, Enzyme Replacement Therapy, or something else, we are striving to find a cure. We know there are many steps to get there, which is why we have strategically started with building blocks to get to this point.
We have met with a few labs that work on gene therapy, but it’s not something we can begin until we at least have mouse models.
As always, please don't hesitate to reach out with questions, comments, or concerns.
Mariah George