What is an Observational Study?
About Observational Studies
The goal of observational studies is to observe the person to learn more about a condition and how it changes (or doesn’t change) over time. This observation or assessment helps understand the condition and identify the most impacted areas of that condition, for example: communication abilities, sleep, movement, behavior, seizures, etc. This is different from interventional studies, which are also called clinical trials. In clinical trials, a specific intervention is tested to see if it helps a specific symptom, behavior, or other outcome.
A common example of an observational study is a natural history study. Natural history studies in Angelman syndrome have been conducted for many years to understand what Angelman syndrome looks like in individuals over time without a disease-modifying therapy. This helps to identify the important symptoms of the condition and whether those symptoms change over time, which then helps in designing clinical trials to test potential treatments for Angelman syndrome.
How is FAST involved in observational studies
Accelerating or preparing for clinical trials is a key part of FAST’s approach to improving the future for all individuals living with Angelman syndrome. In FAST’s Roadmap to a Cure, this is also known as Pillar 5.
As part of that effort, FAST has provided financial support for the North American Natural History Study (NANHS) as well as strategic leadership through the Angelman Syndrome Biomarkers and Outcome Measures Consortium (A-BOM), which is devoted to developing relevant and meaningful endpoints and biomarkers. The NANHS has been ongoing for more than twenty years, providing an essential, deep view into the genotypes and variability in Angelman syndrome. Participants in the NANHS complete key assessments of development and behavior over time that can then be used to understand what AS looks like over the years. The NANHS has also been used to evaluate potential new tools for measuring the impacts of Angelman syndrome, like the ORCA (Observer-Reported Communication Ability). Observational studies like the NANHS are a necessary foundation for developing effective clinical trials.
FAST also provides support for the Global Angelman Syndrome Registry, an international, caregiver-led initiative designed to collect and centralize data for Angelman syndrome, for the benefit of all individuals living with AS. Through a secure online platform, parents and caregivers from around the world contribute valuable information about diagnosis, symptoms, development, medications, and more. The Registry was developed by FAST Australia, with leadership from FAST Australia’s CEO Meagan Cross, to bring families, researchers, clinicians, and advocates together in a global effort to advance care and uncover treatments. GASR is currently the largest Angelman syndrome dataset, with more than 2000 registered participants.
Have questions about observational studies for Angelman syndrome?
Want to talk more about observational studies specifically for your loved one living with AS? Schedule an online or phone genetic counseling session with FAST’s Niki Armstrong. She can answer questions about natural history studies and direct you to resources or enrolling studies.
Interested in enrolling in an observational study?
Our new observational studies tool can help you identify studies that may be options for your loved one.
You can enter your loved one’s age, genotype, and location to see potential options for your family.
Some observational studies enroll at the site while others are virtual. You can connect directly with clinics or hospitals participating in the studies, or you can use the contact information listed in the study entry.