Natural history of SSADH deficiency in adults and how it progresses
Official title: Natural History of Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD), a Heritable Disorder of GABA Metabolism
Funded at Boston Children's Hospital · NIH-11474411 · Data updated 2026-11-12
This project follows adults with SSADH deficiency over time to map how the condition changes and which biomarkers best predict progression.
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 start | August 1, 2018 |
| Project end | June 30, 2029 |
| Funding year | 2026 |
| Award (this year) | $50,208 |
| NIH project number | 3R01HD091142-08S1 |
| Project ID | NIH-11474411 on NIH RePORTER |
Who could benefit from this research
✓Could help
Adults (21 years and older) with SSADH deficiency who are already enrolled in ongoing follow-up and are willing to provide ongoing clinical data and samples.
✕Less likely to help
New participants who are not able to commit to long-term follow-up may not directly benefit.
What this research studies
The study builds on a longer-running natural history project to track adults with SSADH deficiency, focusing on how symptoms evolve over years. Researchers collect clinical data, neurophysiological measurements, and biochemical markers to understand progression. The goal is to identify reliable indicators that can forecast outcomes and guide future therapies. Participation may involve periodic visits, biomarker testing, and neurophysiological assessments, helping patients and families understand the disease better.
Why it matters
Potential benefit: Better understanding of disease progression could lead to earlier detection and more targeted treatment strategies for adults with SSADH deficiency.
How similar studies have gone: Prior work has shown correlations between age, disease severity, biomarkers, and neurophysiological parameters; this study seeks longitudinal validation.
Where this research is happening
-
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.