Angelman SyndromeEarly Phase 1NCT04103333
Angelman Syndrome (AS) Biomarker Study
A Early Phase 1 study testing Lumbar Puncture and Blood Collection in people with Angelman Syndrome and Chromosome 15q Duplication (dup15q) Syndrome, run by Biogen at 5 sites in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages Up to 50 years
- Conditions the study is for
- Angelman Syndrome, Chromosome 15q Duplication (dup15q) Syndrome
- What is being tested?
- Lumbar Puncture and Blood Collection
- Type of treatment
- Surgery or procedure
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 20 participants
- Where
- 5 sitesUnited States
- Study dates
- 18 Dec 2019to 2 Jan 2022
- Phase
- Early Phase 1
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Up to 50 years
- All sexes
- No healthy volunteers
- Child, Adult
Who may be able to join
- 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.
Who cannot join
- 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.
Trial locations and contacts
5 sites in 1 country.
5 sites in 1 country
United States5 sites
Boston Children's Hospital
Boston, Massachusetts, 02115
University of North Carolina Hospital
Carolina, North Carolina, 27514
Rush Medical College
Chicago, Illinois, 60612
Vanderbilt University Medical Center
Nashville, Tennessee, 37235
Rady Childrens Hospital
San Diego, California, 92123
About this study
Official title: 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.
- Being tested
- Lumbar Puncture, Blood Collection
- Medical subject headings
- Angelman Syndrome, Chromosome 15q, trisomy, Polyposis Syndrome, Hereditary Mixed, 1, Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Lumbar PunctureProcedure or surgery
Administered as specified in the treatment arm.
Blood CollectionProcedure or surgery
Administered as specified in the treatment arm.
| Study group | Role | What they receive |
|---|---|---|
| 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. Receives: Procedure: Lumbar Puncture; Procedure: Blood Collection |
| 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. Receives: Procedure: Lumbar Puncture; Procedure: Blood Collection |
| 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. Receives: Procedure: Lumbar Puncture; Procedure: Blood Collection |
| 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. Receives: Procedure: Lumbar Puncture; Procedure: Blood Collection |
| 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. Receives: Procedure: Lumbar Puncture; Procedure: Blood Collection |
| 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. Receives: Procedure: Lumbar Puncture; Procedure: Blood Collection |
| 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. Receives: Procedure: Lumbar Puncture; Procedure: Blood Collection |
| 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. Receives: Procedure: Lumbar Puncture; Procedure: Blood Collection |
What is being measured
The primary outcome is the main question the study is designed to answer.
Ubiquitin-Protein Ligase E3A (UBE3A) Protein Levels in Each Age Group
Measured: Baseline up to Day 33
UBE3A Protein Levels in Each Genotype Group
Measured: Baseline up to Day 33
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted25 Sep 2019
- Study start18 Dec 2019
- Primary completion2 Jan 2022
- Study completion2 Jan 2022
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Angelman SyndromeStudies of the same condition, open and under way.
- More trials run by BiogenThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Early Phase 1
- Primary purpose
- Diagnosis
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Enrolment
- 20 participants (actual)
Sponsor and investigators
- Lead sponsor
- Biogen
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Medical Director, Study director, Biogen
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04103333
- Sponsor's protocol ID
- 992AN001
- Status last verified
- Jan 2022
- First submitted
- 24 Sep 2019
- Last updated
- 28 Jan 2022
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: In accordance with Biogen's Clinical Trial Transparency and Data Sharing Policy on http://clinicalresearch.biogen.com/
Study at a glance
From the registry record, last updated by the sponsor on 28 Jan 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Study to Explore Cerebrospinal Fluid and Blood Biomarkers in Participants With Angelman Syndrome
- ClinicalTrials.gov ID
- NCT04103333
- Acronym / sponsor ID
- 992AN001
- Phase
- Early Phase 1
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 20 participants (actual)
- Lead sponsor
- BiogenIndustry (pharma, biotech, devices)
- Study start
- 18 Dec 2019 (actual)
- Primary completion
- 2 Jan 2022 (actual)
- Study completion
- 2 Jan 2022 (actual)
- First posted
- 25 Sep 2019 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Primary purpose
- Diagnosis
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Number of arms
- 8
| Arm | Type | Receives |
|---|---|---|
| Angelman Syndrome: Group 1 | Experimental | Procedure: Lumbar Puncture, Procedure: Blood CollectionParticipants 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 | Procedure: Lumbar Puncture, Procedure: Blood CollectionParticipants 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 | Procedure: Lumbar Puncture, Procedure: Blood CollectionParticipants 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 | Procedure: Lumbar Puncture, Procedure: Blood CollectionParticipants 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. |
| Dup15q Syndrome: Group 1 | Experimental | Procedure: Lumbar Puncture, Procedure: Blood CollectionParticipants 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 | Procedure: Lumbar Puncture, Procedure: Blood CollectionParticipants 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 | Procedure: Lumbar Puncture, Procedure: Blood CollectionParticipants 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 | Procedure: Lumbar Puncture, Procedure: Blood CollectionParticipants 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. |
Who may qualify
- Ages
- Up to 50 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
Key inclusion criteria (3 listed)
- 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 (6 listed)
- 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).
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Lumbar PunctureAdministered as specified in the treatment arm. | Procedure or surgery | 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 |
| Blood CollectionAdministered as specified in the treatment arm. | Procedure or surgery | 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 |
Primary outcome
Ubiquitin-Protein Ligase E3A (UBE3A) Protein Levels in Each Age Group
Time frame: Baseline up to Day 33
UBE3A Protein Levels in Each Genotype Group
Time frame: Baseline up to Day 33
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 28 Jan 2022.
- Individual participant dataSharing planned: Yes. In accordance with Biogen's Clinical Trial Transparency and Data Sharing Policy on http://clinicalresearch.biogen.com/
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Medical Director study director
Biogen
5 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Early Phase 1 study testing Lumbar Puncture and Blood Collection in people with Angelman Syndrome and Chromosome 15q Duplication (dup15q) Syndrome, run by Biogen at 5 sites in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 6 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 28 Jan 2022. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 5 sites in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
What does this phase mean?
Early Phase 1 (sometimes called Phase 0) studies give a very small amount of a treatment to a few people, mainly to see how the body handles it.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Ubiquitin-Protein Ligase E3A (UBE3A) Protein Levels in Each Age Group (time frame: Baseline up to Day 33). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 28 Jan 2022.