NCT06593951 Registry and Natural History Study for Progressive Myoclonus Epilepsy Type 1 (EPM1)
| NCT ID | NCT06593951 |
| Status | Recruiting |
| Phase | — |
| Sponsor | Boston Children's Hospital |
| Condition | Progressive Myoclonus Epilepsy Type 1 |
| Study Type | OBSERVATIONAL |
| Enrollment | 200 participants |
| Start Date | 2024-10-10 |
| Primary Completion | 2029-10-01 |
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 200 participants in total. It began in 2024-10-10 with a primary completion date of 2029-10-01.
⚠ 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
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.
Eligibility Criteria
Inclusion Criteria: * Molecular diagnosis of EPM1-related disease * Access to web-based communication, including video-teleconference * Permanent address in the United States Exclusion Criteria: * Not having such a diagnosis of EPM1-related disease.
Contact & Investigator
Frequently Asked Questions
Who can join the NCT06593951 clinical trial?
This trial is open to participants of all sexes, studying Progressive Myoclonus Epilepsy Type 1. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT06593951 currently recruiting?
Yes, NCT06593951 is actively recruiting participants. Contact the research team at movementdisorders@childrens.harvard.edu for enrollment information.
Where is the NCT06593951 trial being conducted?
This trial is being conducted at Boston, United States.
Who is sponsoring the NCT06593951 clinical trial?
NCT06593951 is sponsored by Boston Children's Hospital. The trial plans to enroll 200 participants.
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