Natural History Study of Patients With Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency (NCT03758521)
๐ฉบ Plain-English Summary (8th-Grade Level)
Succinic Semialdehyde Dehydrogenase deficiency (SSADHD) is a rare autosomal recessive disease that interferes with the catabolism of the major inhibitory neurotransmitter gamma-amino butyric acid (GABA) and furthermore leads to accumulation of various potential toxic metabolites, most prominently gamma hydroxybutyric acid (GHB). Current research indicates that there is developmental delay and significant neurophysiological and biochemical alterations in SSADHD patients, but whether disease presentation varies with age is not known. The investigators propose to determine the natural course of the clinical presentation of SSADHD; to determine the natural course of neurophysiological and biochemical indices known to be altered in SSADHD; and to identify neurophysiological and biochemical predictors of clinical severity. The overall objective is to define the natural course of the clinical, neurophysiological and biochemical spectrum of SSADHD. Secondary objectives include the identification of biomarkers that correlate with disease phenotype and predict clinical outcomes, and the creation of an international SSADHD data repository for future investigation of pathogenesis and therapy.
Who can join: To join this study, participants generally need to meet the listed inclusion criteria (3 items) and avoid the listed exclusions (6 items).
Location: Boston Children's Hospital โ Boston, Massachusetts
๐ "Do I Qualify?" โ 1-Minute Self Screener
Instant ChecklistCheck every box below. If you can check all of them, you may meet the study's basic screening requirements (final eligibility is confirmed by the site team).
Usually NOT eligible if any of the following apply:
- 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.
๐ Extracted verbatim from the official NIH eligibility criteria. Always confirm with the study coordinator.
๐ All Participating Trial Locations (4 Sites)
- Boston Children's Hospital โ Boston, Massachusetts
- University Children's Hospital โ Heidelberg, Heidelberg
- Sant Joan de Deu Hospital Barcelona โ Barcelona,
- Birmingham Children's Hospital NHS Foundation Trust โ Birmingham,
๐ฐ Cost, Insurance & Patient Rights
- 100% Free Items: The investigational treatment and protocol-required procedures are supplied at zero cost by the sponsor.
- Routine Patient Care: Under federal law (ACA ยง 2709) and many state statutes, routine care costs are covered during participation.
- Voluntary Participation: You may withdraw at any time without affecting your standard medical care.