Patient Registry
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.
I recently did a demo of it and submitted a final round of edits. This is in the final stages and is expected to launch around the end of June.
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
Etiopathogenesis Study
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. We will begin by collecting blood samples from Canadian and US patients, then focus internationally due to international shipping hurdles.
I am personally working with Tapas to help coordinate these blood draws at various hospitals. Our best option is to facilitate multiple patients at one hospital. This may take a while, but 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 May 2024, the model designs from the Genetic Engineering Technologies group were approved. Microinjections were completed on May 14th and 15th. Pups are expected to be born ~3 weeks after this date, in hopes of viable pups in June.
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. They will be creating tadpoles to test on based off RNA samples from patients.
As of June 2024, they were waiting on a few more sample kits to be returned. Once all kits are returned, they can begin sequencing the data. We're hoping to get a potential target drug in the fall.
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.
Designated SPATA Clinic
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. This is something Dr. Kruer is working on, but we’re most likely looking at a 2025 launch.
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 this should start moving once that has launched.
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.Â
We have met with a few labs that work on gene therapy, but it’s not something we can't begin until we at least have mouse models.
As always, please don't hesitate to reach out with questions, comments, or concerns.
Mariah George
Comentarios