What Can Patient Registries Tell Clinicians About Possible Treatments?

Leaders in Genetic Autism Patient Registries Discuss Common Goals at Workshop

In the genetic autism community, there are dozens of patient registries that have been set up over the last decade. Each of these online databases contains a goldmine of information from thousands, or even tens of thousands, of patients. In the rare disease space, where so little is known or understood, patient registries may be the key to answering some of the most pressing questions about the genes that cause certain forms of autism and the behaviors that characterize such disorders.

Many of these patient registries were first set up by non-profit foundations and advocacy groups, such as the Dup15q Alliance or Phelan-McDermid Syndrome Foundation (PMSF), as a way to connect families and help them better understand the characteristics, or phenotypes, of a specific form of autism. Other databases were developed to accelerate scientific discovery and facilitate new treatments by research groups and government agencies like the National Institutes of Health, the Broad Institute, and Simons Foundation.

All of these registries have the same end goal: to benefit patients and their families. But is there a way these separate registries can help each other—and would it be beneficial to share knowledge by linking them together? Those were the questions foundation leaders, scientists, pharmaceutical representatives, and government officials came together to discuss on October 24th at a workshop hosted by the Alliance for Genetic Etiologies in Neurodevelopmental Disorders and Autism (AGENDA) and the Simons Foundation Autism Research Initiative (SFARI) in New York City.

“The goal today was to gather subject matter experts to help advise these groups in designing the next generation of registries to make them useful for both the patients and researchers,” says Jennifer Tjernagel, MS, senior project manager for SFARI and the Simons Variation in Individuals Project (Simons VIP). “We need to spend time defining the purpose of these registries—answer the what and why rather than jumping into the how.”

“We also want to get feedback from external users in order to shape the kind of data that is needed by stakeholders,” she added. “Then we will be well-positioned to start discussing technical considerations for designing these platforms.”

There is a need to engage more individuals with autism in research. Nearly one in 68 children has autism spectrum disorder (ASD) in the United States. ASD can be difficult to diagnose because it is associated with a wide range of cognitive and behavioral phenotypes. It is estimated that hundreds of genes contribute to ASD, and only about 20 percent of them have been discovered. Furthermore, there are no drugs currently on the market to treat the core symptoms of the disorder.

“We want to help each other and share the wealth,” says Russell Bromley, founder of Translational Research Acceleration Consulting. “We have common issues and differentiating issues. How can we go about integrating data as it relates to patient registries? Wouldn’t it be nice if we had an interoperable database where we could collect and deposit data that was relevant to all of us in a standardized way?”

What is a Registry?

First, the working group had to take a step back and define the purpose of patient registries. They seemed to fall into three basic groups: foundation registries (including contact registries and research databases), clinician-researcher databases (including natural history studies), and industry-initiated programs. As a result, the goals of these patient registries were identified as threefold: to accelerate scientific research, inform clinical trial design for new therapies, and connect patients and families who live with rare diseases.

“If we build something that is open source and flexible, and works for those three groups, it would be transformative,” says Stephan Sanders, PhD, a pediatrician and geneticist at University of California, San Francisco.

For end users in the research and drug development setting, patient registries offer access to large swaths of data and enable detailed analysis. They also inform clinical trial design and help with patient recruitment. Each entry contains a general description of the unidentified patient. If the subject fits into their inclusion criteria, the study coordinator can then contact the patient.

“A patient registry is an epidemiology tool that can be leveraged through the patient organizations. We can contact the patients who are eligible for a targeted trial and say ‘this is available for you,’” says Michelle Krishnan, PhD, translational medicine leader in rare diseases at Roche who points to Simons Simplex Collection (SSC), Simons VIP, and SPARK for Autism as examples of registries with clean, accessible and usable information for pharma.

Michelle Krishnan, PhD, of Roche speaking.