How SSADHD (a GABA metabolism disorder) changes over time
Natural History of Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD), a Heritable Disorder of GABA Metabolism
This project follows adults with SSADHD over time to learn how symptoms, brain function, and blood tests change and help predict future outcomes.
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-11397137 on NIH RePORTER |
What this research studies
If I join, researchers will continue a long-term follow-up program for people with SSADHD and collect my medical history, neurological exams, blood biomarker tests, and neurophysiology measures such as EEG. Visits will be scheduled periodically over several years to track how symptoms and test results change as I age. The team will compare these longitudinal data across participants to find patterns that link biomarkers and brain measures to clinical course. That information is intended to improve diagnosis, prognosis, and the design of future treatment trials.
Who could benefit from this research
Good fit: Adults aged 21 and older with a confirmed or suspected diagnosis of SSADHD who can provide consent and attend follow-up visits are ideal candidates.
Not a fit: Children under 21, people without SSADHD, or those unable to travel for periodic testing are unlikely to gain direct benefit from this specific program.
Why it matters
Potential benefit: If successful, this work could help predict how SSADHD will progress in individual patients and make it easier to start and measure future treatments.
How similar studies have performed: Earlier cross-sectional work from this team showed links between age, disease severity, blood biomarkers, and neurophysiology, but longer-term predictive value still needs confirmation.
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.