Monday October 8th, 2018
by Julie Raskin
Since 2005, Congenital Hyperinsulinism International has been sharing the patient experience to advance the scientific understanding of congenital hyperinsulinism (HI). We have shared the patient story on our website, at meetings, and on social media with story after story of what it is like to live with the condition.
As our focus on awareness has ramped up, we have seen what we can call a boomlet in interest in our rare disease from centers of research and biotech companies. There are now many investigational research projects in the HI space with more to come. We are just thrilled about this because there are so many babies, children, and adults living with HI without an effective or desirable treatment. For many, current treatment options include adverse health effects or unwanted side effects, removal of the pancreas leading to diabetes, inadequate blood sugar level control putting patients at risk of neurologic damage, or blood sugars in control, but a family out of control because of the effort needed to keep blood sugars in a normal range. Hooray for this research activity!
We’re confident that our next step, today’s launch of the HI Global Registry (read today’s press release here), will accelerate HI research activity leading to new and better treatments.
“We know from other rare disease communities that bringing the patient voice into the research process helps makes new treatments available. And now we have a way to offer more than just anecdotes and opinions. Through the creation of a patient-reported natural history study, we can provide researchers with scientifically sound, pooled information that includes all of our HI experiences.” – Davelyn Hood, MD, MBA, Principle Investigator of the HI Global Registry
The HI Global Registry will improve the understanding of HI, and advance research for better treatments and patient care. The registry consists of a series of online surveys that asks the participant questions about the patient’s experience with HI over his or her lifetime. This information is then de-identified and combined with other de-identified patient data from around the world. These data sets have rich and unique content because they include the personal experience of living with HI.
Since the HI Global Registry is a natural history study, the perception might be that we have to wait a generation to truly understand the natural history of the disease.
“The good news is that the HI Global Registry will be a great source of information to
researchers even in its earliest stages. The registry is collecting retrospective data AND data about current experiences. The study is also longitudinal with patients coming back to report on a regular basis.” – Isabel Calderon, Co-Investigator, HI Global Registry
CHI has developed relationships with patient families going back a generation, so we expect to have very interesting data almost from the get go.
Another phenomenal aspect of the registry is its role in supporting clinical trials with potential recruits. Participants will be able to select to learn of clinical trials they may be eligible for.
In the rare disease space, finding the right candidate for a clinical trial can be one of the most challenging aspects of research design. The HI Global Registry will be an excellent tool for finding individuals who fit a study’s criteria and are interested in learning more about potentially participating.
“What’s special about the HI Global Registry approach to information and communication is that participants can set their own preferences. They can decide to ‘opt in’ to receiving information about clinical trials or networking opportunities. There is a lot of choice.” – Jacqueline Kraska, Research and HI Global Registry Director
The HI Global Registry is not only for researchers; it will be a tool for people living with HI and their families. Charts and graphs with composite information about how the entire community has responded to survey questions will be available to participants. These graphs and charts, and reports created by CHI for the patient family community, will be a powerful resource.
Finally, patient-powered HI research could have far reaching implications for the population at large. Glucose levels are of major interest to the general population because of the public health issues related to diabetes and obesity. There have been many examples of how the study of a rare disease has led to a better understanding of common health problems. We believe the HI Global Registry will also be of interest to researchers and people who are not affected by the rare condition; our research may have important implications for understanding blood sugar levels in the general population.
CHI is the sponsor of the HI Global Registry which has its own steering committee comprised of patient experts and scientist/physician experts from leading patient organizations, universities and hospitals where HI is treated and studied. These dedicated and brilliant professionals from around the world have dedicated hours of their time to get us to launch day and beyond. The HI Global Registry Steering Committee will continue to work with us on the ongoing governance and project-related activities of the Registry. The full list of the HI Global Registry Steering Committee members is available here.
With the launch of the HI Global registry, life is getting sweeter. We are confident that patient-powered research will create an HI research boom and will set us on a path to “stop the lows!”
– Julie Raskin
Executive Director, CHI