How SSADH deficiency affects people over time
Official title: Natural History Study of Patients With Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency
Run by Boston Children's Hospital · NCT03758521 · Data updated 2026-11-12
This project will follow people with SSADH deficiency across ages to see how their symptoms, brain activity, and biochemical markers change over five years.
Quick facts
| Study type | Observational |
|---|---|
| Sex | All |
| Enrollment | 55 (estimated) |
| Sponsor | Boston Children's Hospital Academic / other |
| Locations | 4 sites (Boston, Massachusetts and 3 other locations) |
| Status | Recruiting |
| Started | January 15, 2019 |
| Main results expected | May 31, 2029 |
| Study ends | June 2029 |
| Registry record updated | January 13, 2026 |
| Trial ID | NCT03758521 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates are people of any age with documented pathogenic ALDH5A1 mutations and GHB aciduria who can attend a participating center and tolerate MRI, EEG, and other study procedures.
✕Probably not a fit
Patients with contraindications to MRI (such as certain implanted devices), children under two years for TMS, those with recent substance abuse, or those unable to complete study procedures may not benefit and should not expect direct therapeutic effects from this observational protocol.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This multicenter natural history project will follow children and adults with genetically confirmed SSADH deficiency using both longitudinal and cross-sectional visits over five years. Sites at Boston Children's Hospital, Washington State University, University of South Florida, and University Children's Hospital Heidelberg will perform scheduled assessments including medical history and exam, neuropsychological testing, EEG, TMS, brain MRI with GABA spectroscopy, and annual biospecimen collection. A Boston cohort of about 20 patients will have detailed onsite visits in years 1, 3, and 5 with questionnaires or phone follow-ups every six to twelve months and one MRI during the five-year period. The study aims to map clinical, neurophysiological, and biochemical changes and identify markers that predict clinical severity.
Why it matters
Potential benefit: If successful, the project could give families and clinicians clearer prognosis information and identify biomarkers that help guide future therapies for SSADH deficiency.
How similar studies have gone: Previous small studies have documented neurophysiological and biochemical abnormalities in SSADH deficiency, but long-term multicenter natural history data and validated predictors of severity remain limited, so this approach is partly novel.
Who can join: the full rules
Show full inclusion / exclusion criteria
Inclusion Criteria: * 4-hydroxybutyric aciduria (γ-hydroxybutyric aciduria) * documented pathogenic ALDH5A1 (aldehyde dehydrogenase 5A1 gene) mutation * 0-99 years Exclusion Criteria: * active or recent substance abuse or dependence within the past year. * inability to participate in the study procedures. * any condition that makes the study subject, in the opinion of the investigator, unsuitable for the study. * patients will be excluded from the MRI section of the study if they have: implanted cardiac pacemaker or autodefibrillators, implanted neural pacemakers, cochlear implants, metallic foreign bodies in the eye or Central Nervous System (CNS), any implanted wire or metal device that may concentrate radio frequency fields. * patients less than age two years will be excluded from the TMS procedure.
Where it's running
-
Boston Children's Hospital
Boston, Massachusetts, United States Recruiting -
University Children's Hospital
Heidelberg, Heidelberg, Germany Recruiting -
Sant Joan de Deu Hospital Barcelona
Barcelona, Spain Active not recruiting -
Birmingham Children's Hospital NHS Foundation Trust
Birmingham, United Kingdom Not yet recruiting
Study contacts
- Study coordinator: Melissa L DiBacco, MD
- Email: melissa.dibacco@childrens.harvard.edu
- Phone: 617-919-4617
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How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.