Gene Therapy Program
Building a path toward a genetic treatment for SPATA5 & SPATA5L1
STATUS: IN PROGRESS
PROGRAM: 3-YEAR RESEARCH & DEVELOPMENT PROGRAM
PROGRAM COST: $503,000
WE ARE NOT CURRENTLY RECRUITING PARTICIPANTS
Gene Therapy Roadmap
A successful laboratory result does not immediately become a treatment. There are many stages between discovering a promising gene therapy and eventually treating patients.
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Our current goal is to move SPATA5 and SPATA5L1 gene therapy research as far along this pathway as the science allows.
HOW CAN I PARTICIPATE IN RESEARCH?
At this time we are not recruiting any participants. All participation opportunities will be posted here and on social media.
OVERVIEW
The SPATA Foundation is partnering with The Florida Institute for Pediatric Rare Disease Research at Florida State University along with Mass General Brigham and UT Southwestern to develop a potential gene therapy approach for SPATA5 and SPATA5L1-related disorders.
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Unlike treatments that only manage symptoms, gene therapy aims to address the underlying genetic cause of disease by delivering a functional copy of the affected gene to cells.
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For our community, this research represents an important step toward developing a treatment that could potentially change the course of SPATA5 and SPATA5L1 disorders.
WHAT IS GENE THERAPY?
SPATA5 and SPATA5L1 disorders are caused by genetic changes that interfere with the normal function of these genes.
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Gene therapy is an approach designed to address the root cause of a genetic disorder by providing cells with a functional version of a gene that is missing or not working properly.
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One promising approach is gene augmentation, in which a functional copy of the gene is delivered to cells using a specially engineered delivery system, such as an AAV (adeno-associated virus) vector.
The goal is to help affected cells produce the functional protein they need and, ultimately, restore or improve cellular function.
OUR APPROACH
This program is designed as a step-by-step research pathway to determine whether gene therapy could be a viable treatment strategy for SPATA5 and SPATA5L1 disorders.
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1. DEVELOP & TEST GENE THERAPY APPROACHES
Researchers will investigate different strategies for delivering functional SPATA5 or SPATA5L1 genes to relevant cells.
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2. TEST IN DISEASE MODELS
Potential therapies will be evaluated using laboratory models of SPATA disorders, including genetically engineered models and patient-derived cellular systems.
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3. MEASURE FUNCTIONAL IMPROVEMENT
Researchers will examine whether gene delivery can improve the biological functions affected by SPATA5 or SPATA5L1 mutations.
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4. IDENTIFY THE MOST PROMISING APPROACH
Results from these studies will help determine which gene therapy strategy has the strongest potential to move forward.
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5. PREPARE FOR THE NEXT STAGE
The long-term goal is to generate the scientific evidence needed to determine whether the program should advance toward IND-enabling development and, ultimately, human clinical trials.
WHY FLORIDA STATE UNIVERSITY?
The Florida Institute for Pediatric Rare Disease Research at Florida State University was established to advance research, diagnosis, treatment and care for children affected by rare diseases.
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FSU has invested in technologies designed to advance gene and cell therapy research, including its Viral Vector & Gene Editing Core, which supports AAV, lentiviral and CRISPR-based research.
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This expertise provides an important foundation for developing and testing a gene therapy strategy specifically for SPATA5 and SPATA5L1 disorders.
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This project being located in Florida also allows for The George Family, who founded The SPATA Foundation, to be hands on during the program.
WHY IT MATTERS
SPATA5 and SPATA5L1 disorders are ultra-rare conditions with limited treatment options.
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Today, families primarily rely on therapies that manage individual symptoms—such as seizures, movement difficulties, hearing loss and developmental challenges—rather than treatments that address the underlying genetic cause.
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Gene therapy offers a fundamentally different possibility.
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If successful, a gene therapy could potentially address the disease at its source rather than treating each symptom individually.
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That is why this program is such an important part of the SPATA Foundation's Roadmap to a Cure.
Program Timeline
Building a path toward a treatment for SPATA5 & SPATA5L1
Building the Foundation
YEAR 1
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clinical features and measurable disease markers
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Create and validate human cell models carrying mutations similar to those found in patients
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Begin development of brain organoids to model disease-related changes
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Expand and begin characterization of the existing mouse models
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Start designing gene therapy vectors to delivery healthy copies of the affected genes
Milestone:
Identify early disease patterns and measurable changes in the models
Understanding the Disease
YEAR 2
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Confirm consistent disease features across different models
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Compare and align findings between human cells, brain organoid and mouse studies
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Identify 2–3 key measurements that can be used to determine whether treatment improves disease related changes (“rescue endpoints”)
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Produce research-grade gene therapy vectors for treatment studies
Milestone:
Establish clear, measurable targets for evaluating treatment
Testing the Therapy
YEAR 3
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Deliver gene therapy to human cell lines, brain organoids and animal models
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Measure whether gene therapy improves disease-related changes
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Evaluate dosing, safety, and effectiveness
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Compare results against predefined criteria for advancing therapy
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Determine whether the findings support the next steps toward potential human clinical testing
Milestone:
Determine whether the results support advancing gene therapy to the next stage of development
Go / No-Go Decision
END OF YEAR 3
By the end of this program, we aim to have a clear, data-driven answer: can gene therapy meaningfully treat SPATA5 and SPATA5L1 disorders, and should it advance toward clinical development? If successful, we will move toward IND-enabling studies and clinical trial planning.
If not → Refine approach or explore alternative strategies
Help us find a cure
Donate Today
The SPATA Foundation is on a mission to fund important research that will lead to viable treatment options for those affected.​
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The reality is that funding is left up to us as families. Your financial support helps us get one step closer to a better lives for those with SPATA5 and SPATA5L1 Disorders.