FAST AS CSF Collection Study Community Presentation
Biogen and the Foundation for Angelman Syndrome Therapeutics provided an update on the Angelman CSF Collection Study during a community presentation. The study aims to investigate the use of UBE3A protein as a biomarker for Angelman syndrome and identify other potential biomarkers for the disease. The study involves collecting cerebral spinal fluid (CSF) samples through a lumbar puncture procedure in individuals with genetically confirmed Angelman syndrome who are scheduled for a procedure requiring anesthesia or conscious sedation. The study has been conducted at five centers in the US, with enrollment expected to close in August 2021. Participants will not directly benefit from the study, but their involvement will contribute to improving the understanding of Angelman syndrome and identifying biomarkers for future clinical trials. Priority screening may be offered to participants for future investigational studies, but it does not guarantee enrollment. The study results will not be shared with caregivers, as participant details will be pseudo-anonymized for confidentiality.
Authors: Andrew Traube-Childs, Rob Komorowski
Publication Date: 2021-07-14
Hello everyone, thank you so much for joining us. I’m Kelly David from the Foundation for Angelman Syndrome Therapeutics. I’m here with Rob Komorowski and Andrew Traube-Childs from Biogen. They’ll be providing an update on the Angelman CSF Collection Study. I will now turn it over to them to get started.
Biogen is a global biotechnology company based in Cambridge, Massachusetts. Their mission is to be pioneers in neuroscience. They discover, develop, and deliver innovative therapies for people living with serious neurologic and neurodegenerative diseases. Biogen has a leading portfolio of medicines for multiple sclerosis, spinal muscular atrophy, and other diseases. They are also focused on advancing research programs in various neurological disorders.
The AS CSF Collection Study
Biogen, Ionis, and Roche have formed a collaborative research partnership. As part of this partnership, Biogen is leading the AS CSF Collection Study. This study aims to investigate if UBE3A protein can be used as a biomarker for Angelman syndrome and if there are other biomarkers for the disease. Biomarkers are important for drug development as they help select drug doses, monitor safety, and assess drug effectiveness.
Angelman syndrome is caused by a problem in the UBE3A gene, resulting in low levels of UBE3A protein in the brain. The CSF Collection Study will measure UBE3A levels in the cerebrospinal fluid (CSF) of people with Angelman syndrome. This information will provide valuable insights into the disease and aid in future drug development clinical trials.
The CSF Collection Study was launched in December 2019 and is expected to close enrollment in August 2021. The study is being conducted at five centers in the US and aims to enroll approximately 20 Angelman participants. Due to the impact of the COVID-19 pandemic, enrollment was delayed, but as of now, four participants have been enrolled, and 16 more are being sought.
To be eligible for the study, participants must have a genetically confirmed Angelman syndrome diagnosis, be 50 years old or younger, and have a planned procedure that requires general anesthesia or conscious sedation within the first two weeks of the study. The study will also include other procedures unrelated to the study that require anesthesia, such as dentistry, GI tube fitting, and MRIs.
Participants will undergo screening assessments to confirm eligibility. If eligible, they will have a sampling visit where a CSF sample will be collected through a lumbar puncture procedure. Blood samples will also be taken for biomarker and DNA assessments. Participants will be monitored for any side effects and will have follow-up contact after the sampling visit.
Participants in the CSF Collection Study have the opportunity to opt-in for priority screening. This means they may have the opportunity to screen for future investigational studies. However, priority screening does not guarantee enrollment in an interventional trial. IQVIA is assisting Biogen in conducting the study and will maintain a list of eligible participants for priority screening across all sites.
If you are interested in learning more about the study and possible involvement, please contact the location that is most convenient for you. The study hospitals conducting the CSF Collection Study are:
- Hospital A
- Hospital B
- Hospital C
- Hospital D
- Hospital E
During the community presentation, a Q&A session was held. Here are some of the questions and answers discussed:
Q: What is a priority screening?
A: Priority screening allows participants to be considered for future investigational studies. However, it does not guarantee enrollment, as specific requirements must be fulfilled.
Q: Can priority screening be transferred from one patient or family to another participant if they’re not eligible for interventional trials?
A: No, priority screening is only available to participants in the CSF Collection Study.
Q: If I participate at one location for the study, can I apply my priority screening at a different location for the next study?
A: Yes, all future study locations will honor the priority screening status.
Q: Is there an age limit for the trial?
A: Participants must not be over 50 years old at the time of informed consent to the study.
Q: If I don’t live near a study site, but the person I represent is having a procedure which requires anesthesia, can we still participate?
A: Yes, as long as the insurance covers the pre-scheduled procedure at one of the study sites and the person meets all eligibility criteria, they can participate.
Q: Will I, as the caregiver, receive the results from the participant’s sample?
A: Specific results will not be shared with caregivers. Participant details will be pseudo-anonymized for confidentiality purposes.
Q: Why is spinal fluid necessary? Couldn’t you just take a blood sample?
A: Spinal fluid may provide important information about Angelman syndrome that cannot be seen in blood, urine, or saliva samples. It allows for testing potential biomarkers.
Q: If the person I represent is not scheduled for a procedure, can they still take part?
A: No, participation requires a pre-scheduled procedure that requires anesthesia or conscious sedation.
The CSF Collection Study is an important research effort to investigate biomarkers for Angelman syndrome. Biogen, in collaboration with Ionis and Roche, is conducting this study to improve the understanding of the disease and aid in future drug development. Participants in the study have the opportunity for priority screening in future investigational studies. For more information and involvement, please contact the study hospitals listed
- Title: FAST AS CSF Collection Study Community Presentation
- Author(s): Andrew Traube-Childs, Rob Komorowski
- Author(s)’ affiliation: Biogen
- Publication date: 2021-07-14