Dr. Zigler has devoted her career to integrating patient and family voices into clinical care and research. Recently, she and her team developed the Observer-Reported Communication Ability (ORCA) assessment for use in clinical trials. The work was funded by the Foundation for Angelman syndrome Therapeutics (FAST), a patient-advocacy organization and the largest non-governmental funder of Angelman syndrome research. Angelman’s is a genetic disorder where a gene is either deleted or not working correctly. Children with the disease typically do not speak, and their functioning is severely impacted in a number of areas.
How did you decide how to arrange the hierarchy of the child’s communication ability in the Observer-Reported Communication Ability (ORCA) measurement?
Based on detailed data from our qualitative interviews with caregivers and speech-language pathologists, we developed a theoretical hierarchy of parent-observed behaviors within specific communication ‘functions’ (requesting and refusal vs story-telling). We confirmed this framework with our team’s communications experts, then went a step further and brought in a group of people who work in communication and neurodevelopmental disorders to determine if our hierarchy truly reflected the natural spectrum of communication abilities and to ensure that it matched existing knowledge of communication and child development. Essentially, the concepts of the ORCA measure were driven by the caregivers’ input and the qualitative data, then confirmed in multiple ways to verify that our interpretation was correct.
Can you talk about the next steps for ORCA?
The evidence strongly supports the validity of the ORCA measure in a clinical trial context. We’ve completed the cross-sectional study and will now focus on a longitudinal validation asking: Is the ORCA responsive? How sensitive are scores at detecting change? What does that change look like? And can we interpret that change? The ORCA is currently being used as an exploratory outcome measure in a few contexts, so we are anticipating that we will soon receive some longitudinal data.
We will also tie the ORCA measure to other commonly-used, clinician-based communication measures, such as the Bayley Scales or Vineland Assessment, and examine how the ORCA score, which is derived from caregivers, relates to these assessment tools. This will help us determine if the ORCA will stand as a primary or secondary end-point and understand how we can integrate the information from the caregiver with the clinician- and performance-based tools.
It is also important to recognize what the ORCA measure is and isn’t. It is patient and family-centered and was designed to capture what the caregiver finds important about their child’s communication, where they want the child to improve, and what areas of communication directly impact the family’s quality of life. On the other hand, it is not a performance-based test that’s directly tied to cognition or based on standardized tasks. For example, if a pharmaceutical company wants to determine the efficacy of a new drug on a child’s communication from the family’s perspective, I’m confident the ORCA would do a great job. But if someone wants to measure communication in a more standardized setting and compare it against norms from the general population, that is a very different goal, and ultimately would require a different measurement approach. I expect that both will be useful within a clinical trial.
Finally, the last piece is to expand the ORCA so that other rare, neurodevelopmental disorder populations can benefit from the measure. Potentially, the concepts can be applied to a number of similar genetic conditions, and we want to make sure that they are set-up to utilize the ORCA, since we consistently hear that communication is a high priority for families.
Why have parents/caregivers and others studying neurological disorders been so receptive to ORCA?
First, I believe that parents have been receptive because kids with Angelman, and adults for that matter, have a unique communication profile, and there just weren’t communication measures designed specifically for this population that were from a patient-centered perspective and that included parents or caregivers at every stage. So it really meets a critical need. Second, the ORCA places the child’s communication abilities on a spectrum, which means every child gets an actual score. Children with AS often score at the bottom of a performance-based test or sometimes don’t get a score at all. This causes frustration for clinicians and parents who know the score doesn’t reflect their child’s communication abilities or the parent’s experience communicating with their child. Third, we honed in and designed the measure specifically for people with Angelman syndrome and calibrated it to their range of communication abilities.
Even though our manuscripts are still in process, thirty different groups and collaborators have contacted us to use the ORCA because it fills an area of great need. Our goal is to make it as accessible as possible to anyone who needs it.