Paige Nues: In Rett syndrome, we’re very fortunate that the field of research is advancing, and there are clinical trials on the horizon. There are a lot of potential interventions that we hope will come our way for our children. How do families learn about clinical trials? With the International Rett Syndrome Foundation, we’ve developed a tool on our website called My Clinical Trial Finder, where families can come to our website and put in a couple of key pieces of information. We try to deliver a return result that will tell them about all of the clinical trials that are seeking enrollment that they can participate in.

But that’s not enough. When you have a child with a disorder as complex and as pervasive as Rett syndrome, you really want somebody to walk the journey with you. You want to be able to call your neurologist or your child’s pediatrician or general practitioner, whether they’re a child or an adult, and have them walk through with you what type of clinical trial might be right for your child and if they think it’s a good idea. So, families can find out about clinical trials through our website. They often talk about it on online forums and find out from other parents about things that are eligible and enrollable. But they need to have reassurance from our community, from our foundation, and from their own clinician that enrolling in a clinical trial is worthwhile, that they are safe, and they need to understand exactly what the commitment will be.

For example, families might think they need to pay to participate in a clinical trial, or they might think it will be a short duration, and they need the support and encouragement to enroll in a trial that might be pretty long term. It could be months. It could require multiple visits. It could require complex data tracking and questionnaires filled out regularly. It might require inpatient stays and laboratory testing and monitoring. They worry about, because Rett syndrome is a progressive disorder and suppose her symptoms change over time, it’s hard to tease out, is it the clinical trial medication, or is it the natural progression of the disease? Are they going to be able to get treatment for that changing symptom during the clinical trial? It’s very complex, and it feels elective. With the right supports and the right encouragement, it can feel very exciting and very hopeful, and you can feel like you are making a difference, not only for your child but for all effected by Rett syndrome.

Without that encouragement and reassurance that it’s safe and that you will be given the oversight of someone that really understands Rett syndrome, you might also be really hesitant to put your child at risk because many parents feel like she’s already suffered enough. Additionally, he might have his symptoms progress even more with an experimental medication. I think understanding the safeguards that are in place for clinical trials, and the reassurance that they can withdraw at any time creates a whole new world for parents. Once you have a diagnosis of Rett syndrome, you’ve already entered a whole new world of medications and medical relationships that you never imagined with your child, and taking that next step to enroll in clinical trials can be even more confusing and exciting. At the same time, you’re filled with a lot of fear and concern.

Encouragement is really important, and reassurance that the FDA does not let clinical trials advance without solid evidence and solid information. There are always risks, but to the best of their knowledge, these clinical trials are safe, and especially in a rare disease, participation is required. There are not enough people diagnosed with this disorder oftentimes to get the data to make it successful. So each and every enrollment is critical to the success of treatments coming closer to our children. With the proper encouragement from our foundation and our families, and especially from physicians we already know and trust, who have been with us on the journey with our child, that is the best endorsement we could ever have.

Transcript edited for clarity.