Ignite Creation Date:
2024-10-26 @ 3:40 PM
Last Modification Date:
2024-10-26 @ 3:40 PM
Study NCT ID:
NCT06593951
Status:
RECRUITING
Last Update Posted:
None
First Post:
2024-09-10
Brief Title:
Registry and Natural History Study for Progressive Myoclonus Epilepsy Type 1 EPM1
Sponsor:
None
Organization:
None
Study Overview
Official Title:
Registry and Natural History Study for Progressive Myoclonus Epilepsy Type 1 EPM1
Status:
RECRUITING
Status Verified Date:
2024-10
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
No
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
EPM1
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 andor 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
Detailed Description:
Progressive myoclonus-epilepsies PME are severe epilepsies that insinuate into the lives of previously healthy children or young adults irrevocably intensify and become intractable Progressive Myoclonic Epilepsy type 1 EPM1 also known as Unverricht-Lundborg disease ULD is the prototypical and most common PME It is caused by bi-allelic variants in the CSTB gene The phenotypic spectrum of EPM1 is broad and reflects the amount of residual CSTB protein function in an individual Individuals with classic EPM1 typically develop seizures between 6-16 years of age followed by progressive non-epileptic action- and stimulus-induced myoclonus ataxia and cerebellar dysfunction with speech and swallowing impairment These individuals generally have one or both CSTB variants partially functional On the severe end of the spectrum are patients with a complete loss of the CSTB protein due to bi-allelic null variants
The characterization of disease progression and biomarker discovery are necessary to define clinically meaningful endpoints for future interventional trials and to meet regulatory requirements for phase 12 and later-stage trials
As an ultra-rare disease patients with EPM1 are dispersed across the United States making on-site visits for natural history studies burdensome to families In this study we will overcome this obstacle by adapting a remote- assessment-driven natural history study with clinical electrophysiological and biochemical biomarkers The proposed study will delineate the natural history and evolution of myoclonus as a key disease feature in EPM1 and CSTB-related disease will create a biobank for biospecimen and will assess health-related quality of life This approach will further clinical trial readiness for EPM1-related disease
Specifically the objectives of this protocol are to
1 Determine the natural history and genotype-phenotype correlations of disease-causing variants in EPM1-related disease
2 Facilitate an early diagnosis enable counseling with anticipatory guidance of affected families and help define clinically meaningful endpoints for future interventional traits
Specific aims include
1 Perform longitudinal Unified Myoclonus Rating Scale UMRS assessments and clinical interviews via video-teleconference with study participants to track functional impairment and disease progression
2 Establish a biobank for samples from participants with CSTB mutations including EPM1 and CSTB-null disease enabling quantitative profiling of biochemical biomarkers
3 Conduct a health-related quality of life survey about participants with EPM1 and CSTB-null disease to understand the impact on patients and caregivers
The characterization of disease progression and biomarker discovery are necessary to define clinically meaningful endpoints for future interventional trials and to meet regulatory requirements for phase 12 and later-stage trials
As an ultra-rare disease patients with EPM1 are dispersed across the United States making on-site visits for natural history studies burdensome to families In this study we will overcome this obstacle by adapting a remote- assessment-driven natural history study with clinical electrophysiological and biochemical biomarkers The proposed study will delineate the natural history and evolution of myoclonus as a key disease feature in EPM1 and CSTB-related disease will create a biobank for biospecimen and will assess health-related quality of life This approach will further clinical trial readiness for EPM1-related disease
Specifically the objectives of this protocol are to
1 Determine the natural history and genotype-phenotype correlations of disease-causing variants in EPM1-related disease
2 Facilitate an early diagnosis enable counseling with anticipatory guidance of affected families and help define clinically meaningful endpoints for future interventional traits
Specific aims include
1 Perform longitudinal Unified Myoclonus Rating Scale UMRS assessments and clinical interviews via video-teleconference with study participants to track functional impairment and disease progression
2 Establish a biobank for samples from participants with CSTB mutations including EPM1 and CSTB-null disease enabling quantitative profiling of biochemical biomarkers
3 Conduct a health-related quality of life survey about participants with EPM1 and CSTB-null disease to understand the impact on patients and caregivers
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None