Natural History Study of Patients With Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency
- Conditions
- Succinic Semialdehyde Dehydrogenase Deficiency
- Registration Number
- NCT03758521
- Lead Sponsor
- Boston Children's Hospital
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Active, not recruiting
- Sex
- All
- Target Recruitment
- Not specified
Inclusion Criteria:<br><br> - 4-hydroxybutyric aciduria (?-hydroxybutyric aciduria)<br><br> - documented pathogenic ALDH5A1 (aldehyde dehydrogenase 5A1 gene) mutation<br><br> - 0-99 years<br><br>Exclusion Criteria:<br><br> - active or recent substance abuse or dependence within the past year.<br><br> - inability to participate in the study procedures.<br><br> - any condition that makes the study subject, in the opinion of the investigator,<br> unsuitable for the study.<br><br> - patients will be excluded from the MRI section of the study if they have: implanted<br> cardiac pacemaker or autodefibrillators, implanted neural pacemakers, cochlear<br> implants, metallic foreign bodies in the eye or Central Nervous System (CNS), any<br> implanted wire or metal device that may concentrate radio frequency fields.<br><br> - patients less than age two years will be excluded from the TMS procedure.
Not provided
Study & Design
- Study Type
- Observational
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method Clinical Severity Score;Biochemical - GABA measurement;Biochemical - GHB measurement;Quantification of GABA related signals on the MRI spectroscopy
- Secondary Outcome Measures
Name Time Method