Angelman Syndrome (AS) Biomarker Study

January 27, 2022 updated by: Biogen

A Study to Explore Cerebrospinal Fluid and Blood Biomarkers in Participants With Angelman Syndrome

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.

Study Overview

Status

Completed

Conditions

Intervention / Treatment

Study Type

Interventional

Enrollment (Actual)

20

Phase

  • Early Phase 1

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • United States
    • California
      • San Diego, California, United States, 92123
        • Rady Childrens Hospital
    • Illinois
      • Chicago, Illinois, United States, 60612
        • Rush Medical College
    • Massachusetts
      • Boston, Massachusetts, United States, 02115
        • Boston Children's Hospital
    • North Carolina
      • Carolina, North Carolina, United States, 27514
        • University of North Carolina Hospital
    • Tennessee
      • Nashville, Tennessee, United States, 37235
        • Vanderbilt University Medical Center

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

No older than 48 years (Child, Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Description

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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: Diagnostic
  • Allocation: Non-Randomized
  • Interventional Model: Parallel Assignment
  • Masking: None (Open Label)

Arms and Interventions

Participant Group / Arm
Intervention / Treatment
Experimental: 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.
Procedure: Lumbar Puncture
Administered as specified in the treatment arm.
Procedure: Blood Collection
Administered as specified in the treatment arm.
Experimental: 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.
Procedure: Lumbar Puncture
Administered as specified in the treatment arm.
Procedure: Blood Collection
Administered as specified in the treatment arm.
Experimental: 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.
Procedure: Lumbar Puncture
Administered as specified in the treatment arm.
Procedure: Blood Collection
Administered as specified in the treatment arm.
Experimental: 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.
Procedure: Lumbar Puncture
Administered as specified in the treatment arm.
Procedure: Blood Collection
Administered as specified in the treatment arm.
Experimental: 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.
Procedure: Lumbar Puncture
Administered as specified in the treatment arm.
Procedure: Blood Collection
Administered as specified in the treatment arm.
Experimental: 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.
Procedure: Lumbar Puncture
Administered as specified in the treatment arm.
Procedure: Blood Collection
Administered as specified in the treatment arm.
Experimental: 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.
Procedure: Lumbar Puncture
Administered as specified in the treatment arm.
Procedure: Blood Collection
Administered as specified in the treatment arm.
Experimental: 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.
Procedure: Lumbar Puncture
Administered as specified in the treatment arm.
Procedure: Blood Collection
Administered as specified in the treatment arm.

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Time Frame
Ubiquitin-Protein Ligase E3A (UBE3A) Protein Levels in Each Age Group
Time Frame: Baseline up to Day 33
Baseline up to Day 33
UBE3A Protein Levels in Each Genotype Group
Time Frame: Baseline up to Day 33
Baseline up to Day 33

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Biogen

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

December 18, 2019

Primary Completion (Actual)

January 2, 2022

Study Completion (Actual)

January 2, 2022

Study Registration Dates

First Submitted

September 24, 2019

First Submitted That Met QC Criteria

September 24, 2019

First Posted (Actual)

September 25, 2019

Study Record Updates

Last Update Posted (Actual)

January 28, 2022

Last Update Submitted That Met QC Criteria

January 27, 2022

Last Verified

January 1, 2022

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 992AN001

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

Yes

IPD Plan Description

In accordance with Biogen's Clinical Trial Transparency and Data Sharing Policy on http://clinicalresearch.biogen.com/

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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