2022 February: Community Webinar about Natural History Study and Clinical Trials progress
The webinar provided an update on the Natural History Study and clinical trials progress for Angelman Syndrome. The Natural History Study aims to understand the natural progression of the syndrome and identify objective outcome measures and biomarkers. The study has already started and is recruiting participants of any age and genotype. The clinical trials focus on treatments that aim to address the root cause of Angelman Syndrome, the UBE3A deficiency. These treatments include antisense oligonucleotides and gene therapies. The trials are in early phases and primarily focus on safety and dosage. The webinar emphasized the importance of community involvement and support in advancing research and development for Angelman Syndrome.
The FAST UK Board of Trustees would like to thank everyone for joining the webinar. The purpose of this webinar is to provide an update on the Natural History Study and the clinical trials that are currently underway in Oxford. The speakers for this webinar are Theodora Markati, Laurent Servais, Irina Karaseva, and Katie Cunnea.
Natural History Study
Theodora Markati begins by discussing the Natural History Study that has already started in Oxford. She explains that the study aims to understand the natural progression of Angelman Syndrome and identify objective outcome measures and biomarkers. The study also aims to facilitate the design of clinical trials and patient recruitment. The study is a two-year prospective observational study and aims to recruit 40 participants from all around the UK. So far, 15 participants have been recruited, with an age range of 2 to 13 years.
The study involves various assessments and questionnaires to assess different domains affected by Angelman Syndrome. It also includes the use of the ActiMyo device, a watch-like device that monitors movement continuously. Blood samples are collected for proteomic analysis and an EEG is conducted to analyze brain activity. The study also aims to create a DNA biobank for future research on genetic assays for newborn screening methods.
The Natural History Study contributes to the development of endpoints and biomarkers, health economic analysis, and understanding the current deficiencies and needs of the Angelman Syndrome community in the UK.
Laurent Servais then discusses the clinical trials that are starting or have started in Oxford. He explains that there are several different trials in progress, each with its own specific criteria and objectives. He mentions the GTX 102 trial, which has already started and aims to include a total of 18 patients. He also mentions the HALOS trial, which is an antisense oligonucleotide trial and is expected to start before the summer. The HALOS trial includes patients aged 2 to 50 years old and with various genotypes.
Servais emphasizes that the trials focus on safety and dose determination. He also mentions the importance of natural history studies in identifying suitable patients for clinical trials and supporting the approval and reimbursement processes.
During the Q&A session, the speakers address various questions from the audience. They discuss the burden of general anesthesia in the trials, the inclusion of older patients in the natural history study, the differences between the clinical trials, and the benefits of the natural history study beyond therapeutics development.
The speakers also provide their contact information for further inquiries and offer support to parents who are considering participating in the natural history study.
The webinar concludes with a reminder to follow FAST UK on social media for updates and to participate in fundraising events. The speakers express their gratitude for the support of the Angelman Syndrome community and emphasize the importance of working together to advance research and improve the lives of individuals with Angelman Syndrome.
- Title: 2022 February: Community Webinar about Natural History Study and Clinical Trials progress
- Author(s): Theodora Markati, Laurent Servais, Irina Karaseva, Katie Cunnea
- Author(s)’ affiliation: University of Oxford; FAST UK; AngelmanUK
- Publication date: 2022-03-06
- Collection: FAST UK Webinars