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Natural History Study of Patients With Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency
NCT03758521 · View on ClinicalTrials.gov ↗
Study 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.
Conditions Studied
Interventions
- DEVICE Transcranial magnetic stimulation (TMS)
- DEVICE Magnetic resonance imaging (MRI)
- DEVICE Electroencephalogram (EEG)
- PROCEDURE Bio-specimen Collection
Study Locations (4)
Other
- Sant Joan de Deu Hospital Barcelona — Barcelona
- Birmingham Children's Hospital NHS Foundation Trust — Birmingham
Massachusetts
- Boston Children's Hospital — Boston
Heidelberg
- University Children's Hospital — Heidelberg
Trial Details
| Field | Value |
|---|---|
| Enrollment Target | 55 participants |
| Start Date | 2019-01-15 |
| Est. Completion | 2029-06 |
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Full Details on ClinicalTrials.gov ↗What the Registry Record Tells You About NCT03758521
The ClinicalTrials.gov registry entry for NCT03758521 describes a study currently listed as recruiting. It is categorized as an unspecified phase, which is the standard way researchers label where a study sits along the investigational pathway from early safety work through later efficacy and post-marketing evaluation. The registered enrollment target is 55 participants, a figure that helps gauge the scale of data the investigators plan to collect. The listed sponsor is Boston Children's Hospital, which has 752 total studies on file at ClinicalTrials.gov, and sponsors are the parties responsible for study design, oversight, and regulatory filings.
The record links to 1 condition, with Succinic Semialdehyde Dehydrogenase Deficiency appearing as the primary indexed condition, and to 4 interventions — of which Transcranial magnetic stimulation (TMS) is the first listed. Interventions can include drugs, devices, procedures, behavioral programs, or observational arms, and each is tracked as a separate registry field so that downstream queries can filter accurately. When a trial lists multiple interventions, it usually reflects a multi-arm design or a comparison protocol rather than a single treatment being tested in isolation. The brief summary published in the registry is the clearest source of protocol intent and should be read before drawing conclusions from any sidebar tags.
Geographic footprint matters for practical reasons: NCT03758521 reports 4 study locations spanning 3 distinct geographic areas — top geographies include Other, Massachusetts, Heidelberg. A larger site network tends to correlate with broader recruitment capacity, but it does not imply anything about study quality, and site-level enrollment status can diverge from the overall registry status shown above. Every data point on this page comes from the public ClinicalTrials.gov dataset and is reproduced here for reference only; it is not a medical recommendation, an endorsement of the sponsor, or an invitation to enroll. Verify current status, eligibility criteria, and contact details directly at ClinicalTrials.gov, and discuss any participation decision with your own healthcare provider.
Frequently Asked Questions
What is clinical trial NCT03758521 about?
NCT03758521 is a clinical study titled "Natural History Study of Patients With Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency". 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 ga...
What is the current status of trial NCT03758521?
This trial is currently recruiting. The enrollment target is 55 participants. The study started on 2019-01-15. Estimated completion is 2029-06.
What conditions does trial NCT03758521 study?
This clinical trial studies the following conditions: Succinic Semialdehyde Dehydrogenase Deficiency. These conditions were identified from the trial registry and reflect the primary focus areas of the research.
What interventions are being tested in trial NCT03758521?
The interventions under investigation include: Transcranial magnetic stimulation (TMS) (DEVICE), Magnetic resonance imaging (MRI) (DEVICE), Electroencephalogram (EEG) (DEVICE), Bio-specimen Collection (PROCEDURE). Each intervention is being evaluated for safety and efficacy as part of this clinical study.
Who is sponsoring clinical trial NCT03758521?
This trial is sponsored by Boston Children's Hospital, which has 752 total clinical trials registered on ClinicalTrials.gov. The sponsor is responsible for the study's design, funding, and regulatory compliance.
Where is trial NCT03758521 being conducted?
This trial has 4 study locations across Massachusetts, Heidelberg. Contact the study sites directly through ClinicalTrials.gov for enrollment availability.
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