As a parent of a non-verbal, non-ambulatory child I am forced to make decisions for her on a daily basis—what clothes will she wear, when and with what toys will she play, and the list goes on. While some of these decisions are trivial, others could have a major impact on her quality of life. Currently we are debating on whether or not to have a major surgery to correct her severely curved spine.
Another decision we must make is whether our children will participate in research. With several SCN2A focused treatments in development and clinical trials on the horizon, this is a very exciting time for our community. For families dealing with rare disease, time seems to stand still when it comes to research and drug development. You hear about a promising research project or a potential new treatment, only to have your hopes dashed when funding falls through, results of a study are inconclusive or a treatment is stalled in the regulatory process. Most recently, the Huntington’s Disease community was hit hard with the failure of a promising treatment. This is the harsh reality of the rare disease world.
When we as parents are asked to complete another survey, our child is asked to provide another sample of some bodily fluid or forced to endure another test, it can be exhausting and seemingly futile. At some point I’m sure we have all thought to ourselves, “is it all worth it?” Despite the frustration that can come with participating in research, I have come to appreciate that in doing so, I am taking action. I am doing something to move the dial. In the rare disease world there are so many things that are out of our control; that we can do nothing about. Participating in research is one area where we as families can make a difference.
In early January, after months of coordination (thanks COVID), we went to our local hospital and were able to get a skin punch so that my daughter’s cells could be sent to Nationwide Children’s and the research teams in the Meyer/Wein Labs. I was nervous about the procedure beforehand, wondering if I was putting Eliana through unnecessary pain, but my fears were quickly alleviated. The whole procedure took less than 10 minutes, Eliana smiled through the whole thing and within 24 hours, we received notification that the cells had reached their final destination. To learn more about the research that is being done at Nationwide, visit the foundation website. If you are interested in having your child participate in this crucial research, please contact Leah Schust Myers (firstname.lastname@example.org) for more information.
Frequently Asked Questions
Drugs typically have to clear multiple clinical trial hurdles in order to support approval. The typical trial phases are 1, 2, and 3 with lower number being earlier trials and larger numbers being more advanced trials.
Phase 1 trials are typically in healthy volunteers and are evaluating initial safety, and dosing in humans. These trials help ensure that the drug is safe enough to be evaluated in patients and also are used to identify an appropriate dosing range for subsequent trials.
Phase 2 trials are typically used to provide proof of concept (that the drug has an efficacy signal, is providing a benefit to patients) and also tests safety in the patient population. These trials often are used to help design and power registrational phase 3 trials.
Phase 3 trials are often the trials used to support the approval of the agent and may be the final clinical hurdle a drug needs to pass in order to be approved by the FDA.
This is a designation granted by the FDA when a drug is being developed to treat a pediatric condition that is serious and life-threatening and occurs in under 200k people in the US.
This is a program used by the US government to incentivize drug development for pediatric rare diseases. If a drug is approved that has been granted the rare pediatric disease designation, then the developing company receives a voucher that grants priority review of a future drug (which can accelerate the developmental time of a drug by ~4 months; for example: if drug#1 is approved and had been granted the rare pediatric disease designation then said company would receive a priority review voucher that they could use on drug#2 ).
This is a designation granted by the FDA when a drug is being developed to treat a rare disease (occurs in under 200k people in the US).
This is a program used by the US government to incentivize drug development for rare diseases. Drugs awarded this designation received a number of incentives by the FDA including: 1. Market exclusivity for 7 years post approval, 2. A waiver of application of user-fees, and 3. A 50% tax credit for clinical testing expenses