NCT03758521 Natural History Study of Patients With Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency
| NCT ID | NCT03758521 |
| Status | Recruiting |
| Phase | — |
| Sponsor | Boston Children's Hospital |
| Condition | Succinic Semialdehyde Dehydrogenase Deficiency |
| Study Type | OBSERVATIONAL |
| Enrollment | 55 participants |
| Start Date | 2019-01-15 |
| Primary Completion | 2029-05-31 |
Eligibility & Interventions
Eligibility Fast-Check
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What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 55 participants in total. It began in 2019-01-15 with a primary completion date of 2029-05-31.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
Brief Summary
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.
Eligibility 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.
Contact & Investigator
Phillip L Pearl, MD
STUDY CHAIR
Boston Children's Hospital/Harvard Medical School
Frequently Asked Questions
Who can join the NCT03758521 clinical trial?
This trial is open to participants of all sexes, studying Succinic Semialdehyde Dehydrogenase Deficiency. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT03758521 currently recruiting?
Yes, NCT03758521 is actively recruiting participants. Contact the research team at melissa.dibacco@childrens.harvard.edu for enrollment information.
Where is the NCT03758521 trial being conducted?
This trial is being conducted at Boston, United States, Heidelberg, Germany, Barcelona, Spain, Birmingham, United Kingdom.
Who is sponsoring the NCT03758521 clinical trial?
NCT03758521 is sponsored by Boston Children's Hospital. The principal investigator is Phillip L Pearl, MD at Boston Children's Hospital/Harvard Medical School. The trial plans to enroll 55 participants.