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Angelman Syndrome (AS) Biomarker Study

Primary Purpose

Angelman Syndrome, Chromosome 15q Duplication (dup15q) Syndrome

Status
Completed
Phase
Early Phase 1
Locations
United States
Study Type
Interventional
Intervention
Lumbar Puncture
Blood Collection
Sponsored by
Biogen
About
Eligibility
Locations
Arms
Outcomes
Full info

About this trial

This is an interventional diagnostic trial for Angelman Syndrome

Eligibility Criteria

undefined - 50 Years (Child, Adult)All SexesDoes not accept healthy volunteers

Key Inclusion Criteria:

  • Ability of the participant's legally authorized representative (LAR) to understand the purpose and risks of the study and provide signed and dated informed consent and authorization to use confidential health information in accordance with national and local privacy regulations
  • 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.

Key Exclusion Criteria:

  • Lumbar Puncture (LP) procedure less than 30 days before the Sampling Visit
  • 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).

Note: Other protocol defined inclusion/exclusion criteria may apply.

Sites / Locations

  • Rady Childrens Hospital
  • Rush Medical College
  • Boston Children's Hospital
  • University of North Carolina Hospital
  • Vanderbilt University Medical Center

Arms of the Study

Arm 1

Arm 2

Arm 3

Arm 4

Arm 5

Arm 6

Arm 7

Arm 8

Arm Type

Experimental

Experimental

Experimental

Experimental

Experimental

Experimental

Experimental

Experimental

Arm Label

Angelman Syndrome: Group 1

Angelman Syndrome: Group 2

Angelman Syndrome: Group 3

Angelman Syndrome: Group 4

Dup15q Syndrome: Group 1

Dup15q Syndrome: Group 2

Dup15q Syndrome: Group 3

Dup15q Syndrome: Group 4

Arm Description

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.

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.

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.

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.

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.

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.

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.

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.

Outcomes

Primary Outcome Measures

Ubiquitin-Protein Ligase E3A (UBE3A) Protein Levels in Each Age Group
UBE3A Protein Levels in Each Genotype Group

Secondary Outcome Measures

Full Information

First Posted
September 24, 2019
Last Updated
January 27, 2022
Sponsor
Biogen
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1. Study Identification

Unique Protocol Identification Number
NCT04103333
Brief Title
Angelman Syndrome (AS) Biomarker Study
Official Title
A Study to Explore Cerebrospinal Fluid and Blood Biomarkers in Participants With Angelman Syndrome
Study Type
Interventional

2. Study Status

Record Verification Date
January 2022
Overall Recruitment Status
Completed
Study Start Date
December 18, 2019 (Actual)
Primary Completion Date
January 2, 2022 (Actual)
Study Completion Date
January 2, 2022 (Actual)

3. Sponsor/Collaborators

Responsible Party, by Official Title
Sponsor
Name of the Sponsor
Biogen

4. Oversight

Studies a U.S. FDA-regulated Drug Product
No
Studies a U.S. FDA-regulated Device Product
No
Data Monitoring Committee
No

5. Study Description

Brief 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.

6. Conditions and Keywords

Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Angelman Syndrome, Chromosome 15q Duplication (dup15q) Syndrome

7. Study Design

Primary Purpose
Diagnostic
Study Phase
Early Phase 1
Interventional Study Model
Parallel Assignment
Masking
None (Open Label)
Allocation
Non-Randomized
Enrollment
20 (Actual)

8. Arms, Groups, and Interventions

Arm Title
Angelman Syndrome: Group 1
Arm Type
Experimental
Arm Description
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.
Arm Title
Angelman Syndrome: Group 2
Arm Type
Experimental
Arm Description
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.
Arm Title
Angelman Syndrome: Group 3
Arm Type
Experimental
Arm Description
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.
Arm Title
Angelman Syndrome: Group 4
Arm Type
Experimental
Arm Description
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.
Arm Title
Dup15q Syndrome: Group 1
Arm Type
Experimental
Arm Description
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.
Arm Title
Dup15q Syndrome: Group 2
Arm Type
Experimental
Arm Description
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.
Arm Title
Dup15q Syndrome: Group 3
Arm Type
Experimental
Arm Description
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.
Arm Title
Dup15q Syndrome: Group 4
Arm Type
Experimental
Arm Description
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.
Intervention Type
Procedure
Intervention Name(s)
Lumbar Puncture
Intervention Description
Administered as specified in the treatment arm.
Intervention Type
Procedure
Intervention Name(s)
Blood Collection
Intervention Description
Administered as specified in the treatment arm.
Primary Outcome Measure Information:
Title
Ubiquitin-Protein Ligase E3A (UBE3A) Protein Levels in Each Age Group
Time Frame
Baseline up to Day 33
Title
UBE3A Protein Levels in Each Genotype Group
Time Frame
Baseline up to Day 33

10. Eligibility

Sex
All
Maximum Age & Unit of Time
50 Years
Accepts Healthy Volunteers
No
Eligibility Criteria
Key Inclusion Criteria: Ability of the participant's legally authorized representative (LAR) to understand the purpose and risks of the study and provide signed and dated informed consent and authorization to use confidential health information in accordance with national and local privacy regulations 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. Key Exclusion Criteria: Lumbar Puncture (LP) procedure less than 30 days before the Sampling Visit 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). Note: Other protocol defined inclusion/exclusion criteria may apply.
Overall Study Officials:
First Name & Middle Initial & Last Name & Degree
Medical Director
Organizational Affiliation
Biogen
Official's Role
Study Director
Facility Information:
Facility Name
Rady Childrens Hospital
City
San Diego
State/Province
California
ZIP/Postal Code
92123
Country
United States
Facility Name
Rush Medical College
City
Chicago
State/Province
Illinois
ZIP/Postal Code
60612
Country
United States
Facility Name
Boston Children's Hospital
City
Boston
State/Province
Massachusetts
ZIP/Postal Code
02115
Country
United States
Facility Name
University of North Carolina Hospital
City
Carolina
State/Province
North Carolina
ZIP/Postal Code
27514
Country
United States
Facility Name
Vanderbilt University Medical Center
City
Nashville
State/Province
Tennessee
ZIP/Postal Code
37235
Country
United States

12. IPD Sharing Statement

Plan to Share IPD
Yes
IPD Sharing Plan Description
In accordance with Biogen's Clinical Trial Transparency and Data Sharing Policy on http://clinicalresearch.biogen.com/
IPD Sharing URL
https://vivli.org/

Learn more about this trial

Angelman Syndrome (AS) Biomarker Study

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