FAST, the Foundation for Angelman Syndrome Therapeutics, is excited to accelerate their mission of bringing transformative therapeutics to all individuals living with Angelman syndrome (AS), through funding critical research that supports endpoint development for ongoing and future human clinical trials. FAST and the Angelman Syndrome Biomarker and Outcome Measure (ABOM) Consortium are collaborating with the Research Triangle Institute International (RTI) and Boston Children’s Hospital to accelerate the analysis, correlation and publication of numerous data sets that have been, and will continue to be, collected on patients through an ongoing Natural History Study.
The National Institutes of Health (NIH) funded AS Natural History Study (NHS), conducted from January 2006 to July 2014, provided unique data to further understand common characteristics of Angelman syndrome over an extended period of time. Across six study sites within the United States, over 300 families who have a loved one with Angelman syndrome participated in the study. The data provided insight into key clinical features, medical complications, quality of life impact, and longevity in this population. This data allowed the team to zone in on some of the most specific symptoms that are most important to patients, families and caregivers.
In 2017, the FDA funded another prospective Natural History Study of Angelman Syndrome which was designed to increase the understanding of the most impactful symptoms in the Angelman syndrome population while focusing on the specific instruments and measurement tools that were most sensitive to those living with Angelman syndrome. By adding newly developed endpoints specific to Angelman syndrome and correlating the data analyzed over the prior eight-year study period, clinical trials can be designed to focus on what endpoints capture this population in the most sensitive and specific way. Meaningful change can be measured over time when compared to a known baseline for a particular age or genotype of Angelman syndrome.
This FAST US and FAST Canada co-funded grant will enable RTI International to expedite the analysis of this robust data in unique ways as additional information and endpoints are added to the study. The team at RTI International will collaborate with the NHS team at Boston Children’s Hospital to analyze the critical data.
RTI International’s research will be led by Anne Wheeler, Ph.D., a licensed neurodevelopmental physiologist with expertise in the developmental, socio-emotional and behavioral needs of infants and children with special needs and their families, and Angela Gwaltney, PhD, a research public health biostatistician with expertise in statistical analysis in small clinical datasets for rare disorders. Boston Children’s Hospital’s team will be led by Anjali Sadhwani, Ph.D., a pediatric psychologist and assistant professor at Harvard Medical School, and Wen- Hann Tan, MD, a clinical geneticist and associate professor of pediatrics at Harvard Medical School.
“Identifying outcome measures that accurately reflect the experiences of individuals with Angelman syndrome and their families and are also sensitive to potential treatment effects is critical for the success of clinical trials,” said Anne Wheeler, Ph.D. “Fortunately, the Angelman community has provided a wealth of information on promising outcome measures through their participation in the Natural History Study. This funding will allow us to look closely at how well these measures work to best inform the tools used to assess how well new therapeutics are working. We are thrilled to be working with FAST and ABOM to support this effort.”
FAST is fully committed to a single mission: finding meaningful and transformative treatments for all individuals living with Angelman syndrome, regardless of their age or genotype. This funding allows the data of over 450 patients to be analyzed between two Natural History Studies to support endpoints that have been prioritized for ongoing and future clinical trials.
FAST’s funding philosophy is simple: C.U.R.E.-AS. Our roadmap is to Collaborate, Uncover, Ready and Expedite the most promising therapeutic strategies to transform the lives of all individuals living with AS. As part of FAST’s collaborative efforts, ABOM fills a gap for the Angelman syndrome patient population. ABOM, which was formed in 2016, is a precompetitive collaboration of industry partners, academic researchers, clinicians, and AS advocacy organizations. Before ABOM’s establishment, there were no AS-focused tools to measure the symptoms of the population in a sensitive manner. FAST has funded the identification and development of novel outcome measures and biomarkers to help ensure the sensitive measurement of important and meaningful symptoms, like communication ability and motor function, are carefully captured.