Understanding a rare genetic disorder affecting GABA metabolism
Natural History of Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD), a Heritable Disorder of GABA Metabolism
This study is looking at succinic semialdehyde dehydrogenase deficiency (SSADHD), a rare genetic condition that affects brain function, to learn more about how it progresses and how it can be treated, so we can better support patients living with this condition.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Boston Children's Hospital NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project ID | NIH-10804091 on NIH RePORTER |
What this research studies
This research investigates succinic semialdehyde dehydrogenase deficiency (SSADHD), a rare genetic condition that disrupts GABA neurotransmission. The study aims to fill knowledge gaps regarding the disease's natural history, clinical severity, and the role of biochemical markers in prognosis. By following participants over an extended period, researchers will gather longitudinal data to better understand disease progression and the effectiveness of potential treatments. Patients will be monitored for changes in symptoms and biomarkers to assess the impact of the disorder over time.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals diagnosed with succinic semialdehyde dehydrogenase deficiency, particularly those under 21 years old.
Not a fit: Patients with other neurological disorders unrelated to GABA metabolism may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to improved early detection and treatment strategies for patients with SSADHD.
How similar studies have performed: Previous research on similar genetic disorders has shown promise in understanding disease mechanisms and improving patient outcomes, suggesting potential for success in this area as well.
Where this research is happening
Boston, United States
- Boston Children's Hospital — Boston, United States (Active)
Researchers
- Principal investigator: Pearl, Phillip Lawrence — Boston Children's Hospital
- Study coordinator: Pearl, Phillip Lawrence
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 below.