Investigating ATP1A3-related disorders and developing new therapies in Brazil
Official title: ATP1A3-Related Disorders in Brazil: Natural History and Antisense Oligonucleotide Therapy Development
Funded at Boston Children's Hospital · NIH-10987581 · Data updated 2026-11-12
This study is looking to learn more about ATP1A3-related disorders, which can cause serious neurological problems, by gathering information from patients in Brazil to help develop new treatments in the future.
Quick facts
| Grant type | R21 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Boston Children's Hospital NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project start | September 17, 2024 |
| Project end | September 16, 2026 |
| Funding year | 2024 |
| Award (this year) | $372,970 |
| NIH project number | 1R21NS139341-01 |
| Project ID | NIH-10987581 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with ATP1A3-related disorders, such as alternating hemiplegia of childhood, rapid-onset dystonia-parkinsonism, or CAPOS syndrome.
✕Less likely to help
Patients without ATP1A3-related disorders or those who do not reside in Brazil may not benefit from this research.
What this research studies
This research focuses on understanding ATP1A3-related disorders, which are caused by mutations in the ATP1A3 gene and lead to significant neurological issues. The project aims to build a large cohort of patients in Brazil to study the natural history of these rare conditions and their genotype-phenotype correlations. By collecting biospecimens and analyzing patient data, the researchers will prepare for future clinical trials of novel therapies, including antisense oligonucleotide treatments. This comprehensive approach seeks to address the urgent need for effective treatments for these debilitating disorders.
Why it matters
Potential benefit: If successful, this research could lead to the development of effective therapies for patients suffering from ATP1A3-related disorders.
How similar studies have gone: While research on ATP1A3-related disorders is limited, the approach of developing antisense oligonucleotide therapies has shown promise in other genetic conditions.
Where this research is happening
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Boston Children's Hospital
Boston, United States Active
Researchers
- Principal investigator: Mochida, Ganeshwaran Hitoshi — Boston Children's Hospital
- Study coordinator: Mochida, Ganeshwaran Hitoshi
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page.