Status:
ACTIVE_NOT_RECRUITING
Natural History Study of Patients with Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency
Lead Sponsor:
Boston Children's Hospital
Collaborating Sponsors:
Washington State University
University of South Florida
Conditions:
Succinic Semialdehyde Dehydrogenase Deficiency
Eligibility:
All Genders
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 (GAB...
Detailed Description
The study will be conducted by 4 academic institutions: Washington State University (WSU), Boston Children's Hospital (BCH), University of South Florida (USF), and University Children's Hospital Heide...
Eligibility Criteria
Inclusion
- 4-hydroxybutyric aciduria (γ-hydroxybutyric aciduria)
- documented pathogenic ALDH5A1 (aldehyde dehydrogenase 5A1 gene) mutation
- 0-99 years
Exclusion
- 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.
Key Trial Info
Start Date :
January 15 2019
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
June 1 2029
Estimated Enrollment :
55 Patients enrolled
Trial Details
Trial ID
NCT03758521
Start Date
January 15 2019
End Date
June 1 2029
Last Update
December 16 2024
Active Locations (4)
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1
Boston Children's Hospital
Boston, Massachusetts, United States, 02115
2
University Children's Hospital
Heidelberg, Heidelberg, Germany
3
Sant Joan de Deu Hospital Barcelona
Barcelona, Spain
4
Birmingham Children's Hospital NHS Foundation Trust
Birmingham, United Kingdom