KSF Awarded Pro Bono Support to Survey Community

The Kabuki Syndrome Foundation (KSF) is thrilled to announce that we engaged in a pro bono partnership with Costello Medical, a global healthcare consulting firm specializing in medical communications, health economics, and outcomes research who proudly delivers projects, free-of-charge, to non-profits. This partnership and the resulting community survey represent a significant step forward in our ability to drive patient-centered research on behalf of the Kabuki syndrome community.

Recruitment goals for the survey were exceeded in less than two months. The survey is now closed. KSF would like to thank the more than 250 caregivers and adults with Kabuki syndrome who participated!

A Commitment to Patient-Centered Research

Addressing the healthcare needs, preferences, and priorities of people with Kabuki syndrome is at the core of our mission. As we prepare for clinical trials, it is crucial that we prioritize the development of treatments and delivery methods that align with the real-world experiences of the Kabuki syndrome community. While those of us involved in this community have some understanding of these priorities, scientifically collected data is essential to guide researchers and clinicians toward impactful solutions.

To achieve this, we partnered with Costello Medical to create a comprehensive community survey that assesses symptom impact and treatment preferences in Kabuki syndrome. The survey took approximately 15 minutes for participants to complete. It was developed by KSF, supported by Costello Medical, and validated by a roundtable of experts – including industry, academic, and patient/caregiver representatives.

Goals of the Kabuki Syndrome Patient and Caregiver Survey

This project, titled “Community Survey to assess symptom impact and treatment preferences in Kabuki syndrome” looks to address these critical areas:

• Current Symptoms with the Greatest Unmet Need
  This section asks participants to identify the symptoms that most significantly impact daily life. This data will help us prioritize symptoms that still lack effective treatments.
• Preferences Regarding Future Treatments
  The survey explores which routes (such as injections, dietary changes, and more) are most acceptable to the community. It also generates more data on risk tolerance and acceptable side effects.

We received over 250 responses, enabling us to conduct sub-analyses by type of Kabuki syndrome, age, and other factors. We also distinguished between responses from adults with Kabuki syndrome and their caregivers. 

An Institutional Review Board (IRB) reviewed the survey and determined to be exempt. The results can be published and shared widely with researchers, clinicians, and industry partners.

Building on Past Survey Successes

In 2021, our crowdsourcing survey provided invaluable data on the symptoms that have a major impact on individuals with Kabuki syndrome. These insights greatly informed the allocation of the $2.4 million that KSF has dedicated to research so far. 

In 2022, we conducted a survey focused on expanding the dietary clinical trial at the Kennedy Krieger Institute (KKI). Our community’s input was shared with KKI and then the National Institutes of Health. This data is helping guide the expansion of this clinical trial. We look forward to providing more updates this year.

These efforts underscore the power of community participation in driving meaningful change. The responses of our community members have directly influenced funding decisions, research aims, clinical priorities, and will continue to do so as we move toward clinical trials.

Join Us in Shaping the Future

We launched the survey during our Annual Research Conference in December 2024. Watch the conference and the call to action to our global community here!

This survey represents our ongoing commitment to understanding the priorities of the growing and evolving Kabuki syndrome community worldwide. Together, we can ensure that future treatments address the challenges that matter most to people impacted by Kabuki syndrome. We look forward to sharing the results widely later this year. Caregivers and adults with Kabuki syndrome, please sign up below to be notified of future opportunities and updates in treatment development.