Gene therapy to treat a rare genetic disorder affecting GABA metabolism
Official title: Gene Therapy for Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD)
Funded at Boston Children's Hospital · NIH-11192746 · Data updated 2026-11-12
This study is testing a new gene therapy for people with Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD) to see if it can help fix a problem with a gene that affects how the brain processes a key chemical called GABA, which could lead to better health and fewer symptoms.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Boston Children's Hospital NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project start | June 1, 2024 |
| Project end | May 31, 2026 |
| Funding year | 2025 |
| Award (this year) | $349,044 |
| NIH project number | 5R61NS131704-02 |
| Project ID | NIH-11192746 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with Succinic Semialdehyde Dehydrogenase Deficiency due to ALDH5A1 mutations.
✕Less likely to help
Patients with SSADHD who do not have ALDH5A1 mutations or those with other unrelated neurological conditions may not benefit from this research.
What this research studies
This research focuses on developing a gene therapy for Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD), a rare genetic disorder caused by mutations in the ALDH5A1 gene. The approach involves using an adeno-associated virus (AAV) to deliver a functional copy of the ALDH5A1 gene to patients' cells, aiming to restore the enzyme responsible for breaking down GABA, an important neurotransmitter. By addressing the underlying cause of the disorder, the therapy seeks to reduce the harmful accumulation of GABA and its metabolites, potentially improving patient outcomes. The research will evaluate the effectiveness of this gene therapy in restoring enzyme function and its impact on related symptoms.
Why it matters
Potential benefit: If successful, this research could provide a potential cure for patients with SSADHD by restoring normal GABA metabolism.
How similar studies have gone: Previous research has shown promise in using gene therapy for similar metabolic disorders, indicating potential for success in this approach.
Where this research is happening
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Boston Children's Hospital
Boston, United States Active
Researchers
- Principal investigator: Rotenberg, Alexander — Boston Children's Hospital
- Study coordinator: Rotenberg, Alexander
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.