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

Conditions

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

Eligibility Criteria

Sex

ALL

Age

N/A - N/A

Healthy Volunteers

Not accepted

Study Details

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.

Key Dates

Start date

Oct 10, 2024

Status verified

Mar 2026

Primary completion

Oct 1, 2029

Completion

Oct 1, 2030

Study Design

Enrollment

200 participants (estimated)

Primary Outcome Measure

Unified Myoclonus Rating Scale (UMRS) [ Time Frame: 5 years ]

Central Contacts

• Darius Ebrahimi-Fakhari, MD, PhD.
  617-355-0097
  [email protected]
• Joshua Rong, BS.
  617-355-0903
  [email protected]

Locations (1)

Find similar trials in Boston, MA

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