What to expect with SSADH deficiency (a hereditary GABA disorder)
Natural History of Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD), a Heritable Disorder of GABA Metabolism
Researchers are tracking adults with SSADH deficiency over time to learn how symptoms change and which blood or brain tests best predict 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-11195022 on NIH RePORTER |
What this research studies
I would join a long-term follow-up where doctors collect my medical history, perform neurological exams, and take regular blood samples and neurophysiology tests such as EEG. The team will measure biochemical markers in blood and relate those numbers to my symptoms and age. Repeating these measures over years will help them see how the condition progresses for different people and whether early test results predict later changes. Visits will include in-person testing at the hospital and some remote follow-up tasks when possible.
Who could benefit from this research
Good fit: Adults aged 21 or older with a confirmed diagnosis of SSADH deficiency (ALDH5A1 mutation) who can attend follow-up visits and provide blood and neurophysiological testing.
Not a fit: People without SSADH deficiency, with other causes of similar symptoms, or those unable to participate in in-person testing and ongoing follow-up are unlikely to benefit directly from this project.
Why it matters
Potential benefit: If successful, this work could help doctors predict disease course earlier and guide timing of treatments or enrollment in future clinical trials.
How similar studies have performed: Earlier shorter-term natural history work from this group found links between age, biomarkers, and severity, but the ability of early markers to predict long-term outcomes has not yet been proven.
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.