Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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COMPLETED
EARLY_PHASE1
20 participants
INTERVENTIONAL
2019-12-18
2022-01-02
Brief Summary
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Detailed Description
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Conditions
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Study Design
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NON_RANDOMIZED
PARALLEL
DIAGNOSTIC
NONE
Study Groups
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Angelman Syndrome: Group 1
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.
Lumbar Puncture
Administered as specified in the treatment arm.
Blood Collection
Administered as specified in the treatment arm.
Angelman Syndrome: Group 2
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.
Lumbar Puncture
Administered as specified in the treatment arm.
Blood Collection
Administered as specified in the treatment arm.
Angelman Syndrome: Group 3
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.
Lumbar Puncture
Administered as specified in the treatment arm.
Blood Collection
Administered as specified in the treatment arm.
Angelman Syndrome: Group 4
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.
Lumbar Puncture
Administered as specified in the treatment arm.
Blood Collection
Administered as specified in the treatment arm.
Dup15q Syndrome: Group 1
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.
Lumbar Puncture
Administered as specified in the treatment arm.
Blood Collection
Administered as specified in the treatment arm.
Dup15q Syndrome: Group 2
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.
Lumbar Puncture
Administered as specified in the treatment arm.
Blood Collection
Administered as specified in the treatment arm.
Dup15q Syndrome: Group 3
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.
Lumbar Puncture
Administered as specified in the treatment arm.
Blood Collection
Administered as specified in the treatment arm.
Dup15q Syndrome: Group 4
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.
Lumbar Puncture
Administered as specified in the treatment arm.
Blood Collection
Administered as specified in the treatment arm.
Interventions
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Lumbar Puncture
Administered as specified in the treatment arm.
Blood Collection
Administered as specified in the treatment arm.
Eligibility Criteria
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Inclusion Criteria
* Must have genetically confirmed diagnosis of AS (UBE3A deletion, UBE3A mutation, paternal uniparental disomy, or imprinting center defect) or dup15q syndrome (with number and size of duplications of 15q specified) provided by the Investigator
* Must be scheduled for a procedure unrelated to the study that will involve administration of general anesthesia or conscious sedation.
Exclusion Criteria
* Any contraindications to having an LP
* The blood and CSF collection will, in the opinion of the Investigator, inhibit, in some way, the prescheduled procedure that requires anesthesia or sedation
* Current enrollment or past enrollment in an interventional clinical study in which an investigational gene therapy or antisense oligonucleotide (ASO) is/was administered
* Enrollment in an interventional clinical study in which an investigational small molecule/antibody treatment or approved small molecule/antibody therapy is administered within 1 month (or 5 half-lives of study agent, whichever is longer) prior to the Sampling Visit which, under the judgement of the Investigator and/or Sponsor would affect UBE3A and other CSF biomarker levels. Use of approved or investigational small molecule therapies which would not impact the biomarkers above will be eligible with Sponsor approval prior to enrollment (e.g., anti-epileptic drugs being studied in alternative formulation, other derivatives of benzodiazepines, or other same class drugs as those already permitted as part of the study).
50 Years
ALL
No
Sponsors
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Biogen
INDUSTRY
Responsible Party
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Principal Investigators
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Medical Director
Role: STUDY_DIRECTOR
Biogen
Locations
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Rady Childrens Hospital
San Diego, California, United States
Rush Medical College
Chicago, Illinois, United States
Boston Children's Hospital
Boston, Massachusetts, United States
University of North Carolina Hospital
Carolina, North Carolina, United States
Vanderbilt University Medical Center
Nashville, Tennessee, United States
Countries
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Other Identifiers
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992AN001
Identifier Type: -
Identifier Source: org_study_id
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