Patient Advocacy Groups

We are a patient-led collaborative research initiative that began in 2022.  We are dedicated to providing critical tools to assure severely impaired individuals are meaningfully included in clinical trials. 

With the increase in genetic and other forms of precision therapies, it is essential that trial sponsors and researchers can demonstrate whether these new therapies actually make children better.  Currently, children severely impaired by DEEs and NDDs do not register on most clinical measures of motor, communication, and other outcomes that are important to the child and family.  That means clinical trials of novel therapies – like gene therapies – cannot demonstrate whether our children have gotten better with treatment.

We are dedicated first to understanding what is most important to families and thus what should be the focus for non-seizure outcomes in clinical trials.  Next, we are striving to adapt an existing measure or create new clinical assessment measures of the most important outcomes.  That measure will be developed to meet FDA and other criteria for use in clinical trials of severe rare diseases.

We began by trialing several approaches to measuring basic abilities - like communication and motor function - in a small sample of children.  This gave us critical experience in using different assessment instruments, like the Bayley Scales of Infant Development, in severely impaired individuals.  Next, we performed the “Parents Speak” survey.  Communication rose to the top as having the greatest impact and being most important to parents and affected children.  A list of our publications can be found at https://inchstoneproject.org/inchstone-results-new/#publications

We are starting work on adapting or creating a measure of communication specifically for use in people with severe neurodevelopmental disorders and that will have the range and sensitivity to identify real changes when they happen in our children

Ideally, we would have something by the end of this year (2025), but the pace of our progress is limited by our resources.

YES!  You will most definitely see the results in several ways.  First, we hold webinars hosted by DEE-P Connections where our research team members present study findings and take questions from participants. If your group has more than  17 participants, we prepare a summary of the findings from your members. See the graphic below.  This was very popular with our supporters in the Parents Speak survey. If desired by your group, one of our researchers can also present a webinar