Angelman Syndrome (AS) Biomarker Study
NCT04103333 · Status: COMPLETED · Phase: EARLY_PHASE1 · Type: INTERVENTIONAL · Enrollment: 20
Last updated 2022-01-28
Summary
The primary objective of this study is to measure ubiquitin-protein ligase E3A (UBE3A) protein levels in cerebrospinal fluid (CSF) and to evaluate its utility as a biomarker in support of the development of therapies for AS.
Conditions
- Angelman Syndrome
- Chromosome 15q Duplication (dup15q) Syndrome
Interventions
- PROCEDURE
-
Lumbar Puncture
Administered as specified in the treatment arm.
- PROCEDURE
-
Blood Collection
Administered as specified in the treatment arm.
Sponsors & Collaborators
- lead INDUSTRY
Principal Investigators
-
Medical Director · Biogen
Study Design
- Allocation
- NON_RANDOMIZED
- Purpose
- DIAGNOSTIC
- Masking
- NONE
- Model
- PARALLEL
Eligibility
- Max Age
- 50 Years
- Sex
- ALL
- Healthy Volunteers
- No
Timeline & Regulatory
- Start
- 2019-12-18
- Primary Completion
- 2022-01-02
- Completion
- 2022-01-02
Countries
- United States
Study Locations
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