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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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Angelman Syndrome: Group 1 | Experimental | 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. |
|
| Angelman Syndrome: Group 2 | Experimental | 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. |
|
| Angelman Syndrome: Group 3 | Experimental | 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. |
|
| Angelman Syndrome: Group 4 | Experimental | 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. |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Lumbar Puncture | Procedure | Administered as specified in the treatment arm. |
|
| Measure | Description | Time Frame |
|---|---|---|
| Ubiquitin-Protein Ligase E3A (UBE3A) Protein Levels in Each Age Group | Baseline up to Day 33 | |
| UBE3A Protein Levels in Each Genotype Group | Baseline up to Day 33 |
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Key Inclusion Criteria:
Key Exclusion Criteria:
Note: Other protocol defined inclusion/exclusion criteria may apply.
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| Name | Affiliation | Role |
|---|---|---|
| Medical Director | Biogen | Study Director |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Rady Childrens Hospital | San Diego | California | 92123 | United States | ||
| Rush Medical College |
In accordance with Biogen's Clinical Trial Transparency and Data Sharing Policy on http://clinicalresearch.biogen.com/
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| ID | Term |
|---|---|
| D017204 | Angelman Syndrome |
| C538040 | Chromosome 15q, trisomy |
| C563365 | Polyposis Syndrome, Hereditary Mixed, 1 |
| D013577 | Syndrome |
| ID | Term |
|---|---|
| D009069 | Movement Disorders |
| D002493 | Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
| D000015 | Abnormalities, Multiple |
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| ID | Term |
|---|---|
| D013129 | Spinal Puncture |
| D001800 | Blood Specimen Collection |
| ID | Term |
|---|---|
| D001706 | Biopsy |
| D013048 | Specimen Handling |
| D019411 | Clinical Laboratory Techniques |
| D019937 | Diagnostic Techniques and Procedures |
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| Dup15q Syndrome: Group 1 | Experimental | 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. |
|
| Dup15q Syndrome: Group 2 | Experimental | 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. |
|
| Dup15q Syndrome: Group 3 | Experimental | 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. |
|
| Dup15q Syndrome: Group 4 | Experimental | 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. |
|
| Blood Collection | Procedure | Administered as specified in the treatment arm. |
|
| Chicago |
| Illinois |
| 60612 |
| United States |
| Boston Children's Hospital | Boston | Massachusetts | 02115 | United States |
| University of North Carolina Hospital | Carolina | North Carolina | 27514 | United States |
| Vanderbilt University Medical Center | Nashville | Tennessee | 37235 | United States |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D025063 | Chromosome Disorders |
| D030342 | Genetic Diseases, Inborn |
| D000096803 | Imprinting Disorders |
| D004194 | Disease |
| D010335 | Pathologic Processes |
| D013568 | Pathological Conditions, Signs and Symptoms |
| D003933 | Diagnosis |
| D003943 | Diagnostic Techniques, Neurological |
| D011677 | Punctures |
| D013812 | Therapeutics |
| D013514 | Surgical Procedures, Operative |
| D008919 | Investigative Techniques |