Christy Zigler, PhD MSEd
Duke University School of Medicine

This project really stared with the Foundation for Angelman syndrome Therapeutics (FAST), a patient advocacy organization. They came to Duke’s Center for Health Measurement in 2018 with a goal: to improve the measurement of communication ability for individuals with Angelman syndrome (AS) to set up for exciting upcoming clinical trials. After completing the initial development work, our team was struck by the demand for a caregiver-centered measure across the AS research community, but we also heard from many other rare and ultra-rare disease communities and pharmaceutical companies planning trials. We put in an application for the FDA’s Center for Drug Evaluation and Research (CDER) Pilot Grant program, which was an exciting opportunity, due to its collaboration with regulatory specialists from the FDA and its specific focus on measurement development.

So that brings us to where we are today! We’ve completed over 2 years of work on this 5-year FDA funded project, including 115 interviews with caregivers of individuals with twelve different neurodevelopmental disorders. Parents and advocates are an integral part of our study team, both on the original development work in AS, but also within this new project. They are partners and authors on our papers/abstracts and truly deserve credit for helping guide the design of this project and the measurement approach.

Based on the completed qualitative work, we have confirmed the importance and meaningfulness of communication within a family, which is not a surprise to anyone. Communication ability is tied strongly to quality of life, and having a way to communicate wants and needs is really crucial for everyone. Communication, nonverbal or verbal, also serves as a way for families to connect with their loved one. In the interviews, we’ve seen a number of topics come up as relevant across families and diagnoses, including making requests, responding to directions, and greeting others.

Currently, we are working to explore the results of the qualitative interviews, including concept elicitation and cognitive interviewing methods, in order to make changes and modifications to the current version of the measure. In the next phase of the study, we anticipate that an updated measure will be evaluated again qualitatively with caregivers, and then quantitatively tested in a larger sample.

In my opinion, there are two aspects of this project make it really unique and valuable to the field. The first is the strong stakeholder engagement component and collaborative nature of this project. Our core study team includes folks with expertise in qualitative methods, psychometrics, child development, small sample size methods, and speech/language/communication disorders. This core team meets every two weeks with the parents and patient-advocates who make up our partners in COMBINEDBrain. We also meet monthly with a team of folks from the FDA. Finally, we also have an External Technical Advisory Committee that includes many specialists, including future users of measures for rare disease clinical trials and industry stakeholders. The second piece of this project that makes it really exciting is the opportunity to develop a measurement strategy across rare diseases. Individuals with rare diseases desperately need high-quality clinical trials, but the traditional approach to measurement development that occurs in silos (usually one-by-one in a target population) is not getting us to a place where we can feel confident about our understanding of treatment effects. This is even more salient due to the smaller sample sizes and heterogeneity of experiences for patients with rare conditions. Our team has the opportunity to refine the measurement of this one meaningful health concept, but we also have a chance to look at the efficiency of developing measures for rare disease communities when the concept is important and relevant to many different families, regardless of their child’s genetic mutation.


Author Disclosure

The study team members have developed the technology being discussed. If it is commercially successful in the future, the developers and Duke University may benefit financially. This project is supported by the Food and Drug Administration (FDA) of the U.S. Department of Health and Human Services (HHS) as part of a financial assistance award totaling $4,098.898.00 with 100 percent funded by FDA/HHS. The contents are those of the author(s) and do not necessarily represent the official views of, nor an endorsement, by FDA/HHS, or the U.S. Government. (1UG3FD007304-01).

Abstract will be presented in Thursday Poster Session II on Thursday, 19 October, 3:20 pm – 4:00 pm. 

This newsletter editorial represents the views of the author and does not necessarily reflect the views of ISOQOL. 

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