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Registry and Natural History Study for Progressive Myoclonus Epilepsy Type 1 (EPM1)
NCT06593951 · View on ClinicalTrials.gov ↗
Study Summary
The Registry and Natural History Study for Progressive Myoclonus Epilepsy Type 1 (EPM1) is focused on gathering longitudinal clinical data as well as biological samples (blood and/or urine) from male and female patients, of all ages, who have a molecular diagnosis of EPM1or CSTB-null-related disease. Currently, there are no therapies that halt disease progression in any CSTB-related diseases, highlighting the urgency for translational research into this condition. The primary objective of the registry is to determine the natural history and genotype-phenotype correlations of disease-causing variants in EPM1 and CSTB-null-related disease.
Conditions Studied
Study Locations (1)
Massachusetts
- Boston Childrens Hospital — Boston
Trial Details
| Field | Value |
|---|---|
| Enrollment Target | 200 participants |
| Start Date | 2024-10-10 |
| Est. Completion | 2030-10-01 |
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Full Details on ClinicalTrials.gov ↗What the Registry Record Tells You About NCT06593951
The ClinicalTrials.gov registry entry for NCT06593951 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 200 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 8 conditions, with Progressive Myoclonus Epilepsy Type 1 appearing as the primary indexed condition, and to 0 interventions. 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: NCT06593951 reports 1 study location spanning 1 distinct geographic area — top geographies include Massachusetts. 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 NCT06593951 about?
NCT06593951 is a clinical study titled "Registry and Natural History Study for Progressive Myoclonus Epilepsy Type 1 (EPM1)". The Registry and Natural History Study for Progressive Myoclonus Epilepsy Type 1 (EPM1) is focused on gathering longitudinal clinical data as well as biological samples (blood and/or urine) from male and female patients, of all ages, who have a molecular diagnosis of EPM1or CSTB-null-related disease...
What is the current status of trial NCT06593951?
This trial is currently recruiting. The enrollment target is 200 participants. The study started on 2024-10-10. Estimated completion is 2030-10-01.
What conditions does trial NCT06593951 study?
This clinical trial studies the following conditions: Progressive Myoclonus Epilepsy Type 1, EPM1, CSTB-related Disease, Myoclonus Epilepsies, Progressive, Unverricht-Lundborg Disease. These conditions were identified from the trial registry and reflect the primary focus areas of the research.
Who is sponsoring clinical trial NCT06593951?
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 NCT06593951 being conducted?
This trial has 1 study location across Massachusetts. Contact the study sites directly through ClinicalTrials.gov for enrollment availability.
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