Condition: Progressive Myoclonus Epilepsy Type 1 · EPM1 · CSTB-related Disease · Sponsor: Boston Children's Hospital
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.
This description comes directly from the study's public registry record.
Darius Ebrahimi-Fakhari, MD, PhD. · 617-355-0097 · movementdisorders@childrens.harvard.edu
Joshua Rong, BS. · 617-355-0903 · movementdisorders@childrens.harvard.edu
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| Boston Childrens Hospital | Boston, Massachusetts, United States | Recruiting |
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Source record: clinicaltrials.gov/study/NCT06593951