We are thrilled to announce that the Angelman Syndrome community has reached one of the most significant advancements in the field of Angelman Syndrome (AS) to date: representatives from six pharmaceutical companies, scientists, clinicians, therapists, parents, private industry, the Foundation for Angelman Syndrome Therapeutics (FAST), the Foundation for Angelman Syndrome Therapeutics Australia (FAST AU), and the Angelman Syndrome Foundation (ASF) came together on March 7th, 2016 at the University of South Florida to form a consortium and hold the inaugural meeting on the Development of Biomarkers and Outcome Measures for clinical trials in Angelman Syndrome.
Organized by Dr. Jodi Cook of Agilis Pharmaceuticals, the objective of the meeting was to encourage discussions among all relevant stakeholders on clinical development strategy, evidence-based outcome measures, biomarkers, and patient-relevant outcome measures to help bring clinical trials to our loved ones with AS. The various areas of discussion included lessons learned from previous clinical trials, development of objective biomarkers, and investigation of assessments in various important areas like communication/vocalization, seizure, sleep, and others pertinent to identifying measurable changes we can see in those with AS before and after any treatments.
This is all in preparation for novel therapeutics being identified, developed, and evaluated for efficacy.
Just as families have played a critical role in bringing Angelman Syndrome to this crossroads of awareness and research, our Angelman community is now in a position to proactively assist as we move closer to the initiation of multiple clinical trials. Meagan Cross, the Chairperson of FAST Australia, discussed the development and impending launch of a new, powerful, and comprehensive Global Angelman Syndrome Registry collection (AS Registry). The Registry will be a repository for patient information that will provide a resource for Angelman Syndrome researchers. The online Registry is patient driven, meaning the caregiver inputs the individual with Angelman Syndrome’s personal information, medical history, test results, etc. in a series of online modules. The information will then need to be validated by the individual with Angelman Syndrome’s medical provider. Data collected is held under the highest levels of security and identified data (Names, addresses etc) is only accessible to approved applicants. The AS Registry will serve as an organized data system used prospectively to quickly identify patient eligibility for clinical trials and to potentially retrospectively analyze the effectiveness of an intervention. Additionally, the AS Registry will demonstrate that we are active participants in this quest for treatments.
The unity, vision, and hard work of our Angelman community have brought us this far. We are now joined by researchers and pharmaceutical companies in the shared belief that a cure is not only possible, but probable. As a team, we are all invested in the healthy future of our loved ones. Participation in the AS Registry is now our responsibility and provides us with the opportunity to play a very critical role in moving AS therapeutics forward from the laboratories into the clinics where our children so desperately need them.
We encourage the community to celebrate in this momentous event, and now is the time to make sure that you register your loved one in this comprehensive registry.
The next few weeks will see input into the AS Registry from attendees of the consortium to ensure that not only is there an elevated understanding of what is being collected but also that the needs of different stakeholders are met. We expect the roll out to follow quickly once this final stage is complete.
Stay tuned, as we will continue to update you on the progress of this consortium and let the community know how and where help will be needed.