Natural History Study Update

We wanted to provide everyone an update on the status of the ongoing Natural History Study at the Alfred I duPont Hospital for Children (AIDHC). We are thrilled that so many Rhizo-families have supported us with this study. To date 17 RCDP patients have completed their baseline visits at the clinical hospital, which puts us well on our way to our goal enrollment of 20 patients! The current Covid-19 situation has certainly added serious challenges to continuing with in-clinic assessments, with many families having understandable concerns about travelling. As such, the majority of participants were unable to complete their six month assessments in-person and we are now running into a similar situation with the 12-month assessments. While this is definitely not how we had planned for the study to proceed, it does not mean that all is lost! The teams at MLD and AIDHC have worked together to come up with ways of still collecting as much information as we can from trial participants remotely.

So what does that mean for families that are a part of the trial? Well, for now if you are unable or uncomfortable traveling to Delaware for scheduled visits, we ask that you still maintain regular correspondence with the clinical site. Candace and Andrea, from the AIDHC, are working to contact all families and get updated medical histories, current medication regimes, distribute surveys and complete updated consent forms. Following correspondence with the FDA late last year, we decided to start collecting detailed information about seizure frequency using a monthly seizure diary. The addition of this diary to the protocol has meant that all families must sign an updated consent form. If you have yet to be in touch with AIDHC and complete this form, please reach out either by email or phone to one of the contacts listed below.

It is important to stress that while we couldn’t be happier with the way the Rhizo-community has embraced this study, it will only be a success if participants remain engaged! The initial assessments provided a lot of great information on the clinical manifestations of RCDP, many of which had never before been systematically evaluated. However, a single time point is not enough! Staying connected to the AIDHC and completing the surveys, medical interviews, and traveling to the site when it’s safe to do so, is critical. A natural history study that is useful for therapeutic trials needs to be able to demonstrate an understanding of the progression of a condition over time. That is why we are working so hard to be able to generate whatever longitudinal data we can virtually.

Participants that do not maintain an active status in the study by maintaining regular communication with the study coordinators will be considered dropouts. We do not want to lose anyone, however we need to be sure that we are focused on families that can be relied on to provide timely medical information. Once you have been deemed a dropout from the trial, you will need to proactively contact the site if you wish to re-enroll. If you are not an active participant in the trial you will not be updated about changes to the clinical protocol, or be eligible for any potential benefits of participation including priority notification of potential future therapeutic trials.

We know that these are challenging and uncertain times and we never dreamed that we would be in this situation a year ago when study enrollment began. To the families that have stuck with us and have been in communication with the clinical site we thank you! You are the reason that this study will be successful!

Clinical Site Contacts:

Candace Muss at 302-651-5476 or Candace.Muss@nemours.org

Andrea Schelhaas at 302-651-5033 or Andrea.Schelhaas@nemours.org