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NCT06593951 · ClinicalTrials.gov registry record
Registry and Natural History Study for Progressive Myoclonus Epilepsy Type 1 (EPM1)
A clinical trial of Progressive Myoclonus Epilepsy Type 1 and EPM1, sponsored by Boston Children's Hospital.
- Recruiting
- Registry status
- 200
- Enrollment target
- 1
- Study location
NCT06593951: Recruiting study of Progressive Myoclonus Epilepsy Type 1 and EPM1, sponsored by Boston Children's Hospital.
NCT06593951 is a study of Progressive Myoclonus Epilepsy Type 1 and EPM1 that is actively recruiting participants, run by Boston Children's Hospital. The registered enrollment target is 200 participants. The trial reports 1 study location across 1 state. According to ClinicalTrials.gov, the official US trial registry.
The verdict
NCT06593951, a study of Progressive Myoclonus Epilepsy Type 1 and EPM1, is actively recruiting participants, sponsored by Boston Children's Hospital.
- RECRUITING
- Registry status
- 200 participants
- Enrollment target
- 1
- Study location
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.
Primary Outcome
Perform longitudinal Unified Myoclonus Rating Scale (UMRS) assessments and clinical interviews via video-teleconference in EPM1 patients to track functional impairment and disease progression.
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 |
What NCT06593951 shows while recruiting
NCT06593951 is an observational study that tracks outcomes without assigning an intervention. The registered 200 participants enrollment target is mid-sized for trials with a published cap.
The record links to 8 conditions, with Progressive Myoclonus Epilepsy Type 1 appearing as the primary indexed condition, and to 0 interventions.
NCT06593951 reports a single indexed study location in Massachusetts.
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.
Who is sponsoring clinical trial NCT06593951?
This trial is sponsored by Boston Children's Hospital, which has 462 total clinical trials registered on ClinicalTrials.gov.
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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