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Registry and Natural History Study for Progressive Myoclonus Epilepsy Type 1 (EPM1)

NCT06593951 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 200

Last updated 2026-03-18

No results posted yet for this 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

  • Progressive Myoclonus Epilepsy Type 1
  • EPM1
  • CSTB-related Disease
  • Myoclonus Epilepsies, Progressive
  • Unverricht-Lundborg Disease
  • Progressive Epilepsy and/or Ataxia With Myoclonus as a Major Feature
  • PME
  • Progressive Myoclonus-Epilepsies

Sponsors & Collaborators

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2024-10-10
Primary Completion
2029-10-01
Completion
2030-10-01

Countries

  • United States

Study Locations

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Entities

Companies

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT06593951 on ClinicalTrials.gov