Angelman Syndrome (AS) Biomarker Study

Brief Title

Angelman Syndrome (AS) Biomarker Study

Official Title

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

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.

Study Phase

Early Phase 1

Study Type


Primary Outcome

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


Angelman Syndrome


Lumbar Puncture

Study Arms / Comparison Groups

 Angelman Syndrome: Group 1
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.


* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information

Recruitment Status


Estimated Enrollment


Start Date

December 18, 2019

Completion Date

December 31, 2021

Primary Completion Date

December 31, 2021

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.




N/A - 50 Years

Accepts Healthy Volunteers



Medical Director, 866-633-4636, [email protected]

Location Countries

United States

Location Countries

United States

Administrative Informations



Organization ID


Responsible Party


Study Sponsor


Study Sponsor

Medical Director, Study Director, Biogen

Verification Date

September 2021