An Early Phase 1 interventional study of Lumbar Puncture and Blood Collection in Angelman Syndrome and Chromosome 15q Duplication (dup15q) Syndrome, sponsored by Biogen. Completed at 5 sites in United States. Open to participants aged Up to 50 Years. Per ClinicalTrials.gov, last updated 2022-01-28.
Sponsored by Biogen · Early Phase 1, Interventional, and Diagnostic
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.
48 studies on the registry are indexed under Angelman Syndrome; 16 are open to participants now.
This study's enrollment of 20 is below the median of 67 across 27 interventional studies indexed under Angelman Syndrome.
Browse Angelman Syndrome studies →Biogen is the lead sponsor of 511 studies on the registry; 24 are open to participants now.
Of its 100 completed or terminated interventional studies of FDA-regulated products, 49 (49%) have results posted.
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Key Inclusion Criteria:
Key Exclusion Criteria:
Note: Other protocol defined inclusion/exclusion criteria may apply.
Participants aged 0-6 years old with Angelman Syndrome will undergo lumbar puncture (LP) for CSF and blood collection while under general anesthesia or conscious sedation during or after a prescheduled procedure unrelated to the study.
Procedure: Lumbar Puncture · Procedure: Blood Collection
Participants aged 7-12 years old with Angelman Syndrome will undergo lumbar puncture (LP) for CSF and blood collection while under general anesthesia or conscious sedation during or after a prescheduled procedure unrelated to the study.
Procedure: Lumbar Puncture · Procedure: Blood Collection
Participants aged 13-18 years old with Angelman Syndrome will undergo lumbar puncture (LP) for CSF and blood collection while under general anesthesia or conscious sedation during or after a prescheduled procedure unrelated to the study.
Procedure: Lumbar Puncture · Procedure: Blood Collection
Participants aged 19-50 years old with Angelman Syndrome will undergo lumbar puncture (LP) for CSF and blood collection while under general anesthesia or conscious sedation during or after a prescheduled procedure unrelated to the study.
Procedure: Lumbar Puncture · Procedure: Blood Collection
Participants aged 0-6 years old with Dup15q Syndrome will undergo lumbar puncture (LP) for CSF and blood collection while under general anesthesia or conscious sedation during or after a prescheduled procedure unrelated to the study.
Procedure: Lumbar Puncture · Procedure: Blood Collection
Participants aged 7-12 years old with Dup15q Syndrome will undergo lumbar puncture (LP) for CSF and blood collection while under general anesthesia or conscious sedation during or after a prescheduled procedure unrelated to the study.
Procedure: Lumbar Puncture · Procedure: Blood Collection
Participants aged 13-18 years old with Dup15q Syndrome will undergo lumbar puncture (LP) for CSF and blood collection while under general anesthesia or conscious sedation during or after a prescheduled procedure unrelated to the study.
Procedure: Lumbar Puncture · Procedure: Blood Collection
Participants aged 19-50 years old with Dup15q Syndrome will undergo lumbar puncture (LP) for CSF and blood collection while under general anesthesia or conscious sedation during or after a prescheduled procedure unrelated to the study.
Procedure: Lumbar Puncture · Procedure: Blood Collection
Administered as specified in the treatment arm.
Administered as specified in the treatment arm.
Ubiquitin-Protein Ligase E3A (UBE3A) Protein Levels in Each Age Group
Time frame: Baseline up to Day 33
UBE3A Protein Levels in Each Genotype Group
Time frame: Baseline up to Day 33
Plan to share: Yes — In accordance with Biogen's Clinical Trial Transparency and Data Sharing Policy on http://clinicalresearch.biogen.com/
Data sharing details ↗ · vivli.org
No publications or documents are linked to this record.
This study is completed, as verified in Jan 2022. You cannot join it, but the record below documents what was studied.
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