A Path Forward
Roadmap to a Cure
Our path to a cure recognizes that families need options now, not someday. We are advancing research into near-term, practical treatments that can improve quality of life and be accessible to the entire SPATA community, while also laying the scientific groundwork for transformative therapies such as gene therapy.
Patient & Disease Research
FOCUS
Understanding SPATA5 and SPATA5L1 in the real world with real patients.
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GOALS​
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Identify urgent needs and shared challenges among patients (seizures, movement disorders, development, sleep) so we can prioritize research.
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Utilize the Patient Registry to collect family-reported data to guide research.
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Utilize Patient Registry in tandem with researchers to conduct a Natural History Study. A Natural History Study is an observational research project that follows people with a specific disease or condition over time to understand how it develops, progresses, and affects patients, without intervening with a new treatment, often collecting data on symptoms, care, and outcomes to help design future trials and improve patient care, especially for rare diseases
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OUTCOME​
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A comprehensive understanding of the patient population and disease spectrum​
Research Tools
FOCUS
Enable high-impact research
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GOALS​
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Develop cellular and animal disease models
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Identify biomarkers for disease tracking and treatment response
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Create a biorepository​ to act as a "library" for biological samples (like blood, tissue, DNA)
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OUTCOME​
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Robust tools and data to support both near-term and long-term therapeutic development​
Explore Therapeutic Options
FOCUS
Short-term and long-term solutions
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GOALS​
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Investigate symptom-targeted and widely accessible treatments like drug repurposing
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Conduct preclinical studies for gene-based approaches (gene therapy, gene editing)
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Engage regulatory experts early to define development pathways
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OUTCOME​
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A portfolio of potential treatments with near-term and transformative impact​
Trials and Treatments
FOCUS
Move therapies from research to real-world impact
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GOALS​
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Identify trial sites and engaged clinicians
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Prepare families for clinical research participation
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Launch clinical trials for both near-term interventions and gene-based therapies
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OUTCOME​
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Accessible treatments for current patients and a clear path toward curative therapies​
Patient Led
Active Research
Families play a vital role in advancing SPATA research. By joining patient registries, sharing medical information, or participating in surveys and research studies, you help researchers better understand the disorder and move potential treatments forward. Your involvement brings us closer to meaningful therapies and gives our community a stronger, collective voice in the scientific process.
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.
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This is a private project The SPATA Foundation has decided to invest in. Click "Learn More" to see the details of the project.
Enroll in the Patient Research Registry
The Patient Registry is separate from the Family Network Registry. While the Family Network Registry is designated to gather general information for internal purposes, the Patient Registry is an official registry to gather medical data for research purposes.
The Patient Registry is a database that collects standardized information about a group of patients who share a condition. This will allow us to collect important data about how SPATA5 and SPATA5L1 affects our children.
Collecting this information via the Registry means the data will be in a central place, allowing researchers to access it to compare symptoms, imaging, treatments, and more.
We highly encourage all families to participate.
Check out Our
Research Tools
We currently have mouse models, cell lines, and patient samples available to support SPATA research. These tools help scientists study the disorder and test potential therapies more effectively.
ANIMAL MODELS
IPSCS
BIOREPOSITORY
Most Recently
Published Research
Explore the most recently published research related to SPATA5 and SPATA5L1 disorders. This section highlights the latest scientific discoveries helping advance understanding and potential treatments.