At the date of publication of this post, at least 118 patients have taken part in CURE SYNGAP1’s ProMMiS Natural History Study at Children’s Hospital of Philadelphia (CHOP), Children’s Hospital of Colorado (CHCO), and Stanford. A family from Poland visited CHOP recently. Here, we share a brief account of their trip along with details about the importance of participation.
From Poland to Philadelphia
A father and son, both named Marcin—traveled more than 4,350 miles from Warsaw to Philadelphia so the younger Marcin could participate in the ProMMiS Natural History Study at CHOP. This extraordinary journey reflects how deeply families value having their child’s genetic story included, especially when that genetic variant is rare. For this particular family, contributing Marcin’s SYNGAP1 variant to the study was not just about their own child, but about helping build the knowledge that will shape future treatments for all families affected by this condition.
In just a whirlwind three-day trip, they received a comprehensive medical evaluation, experienced the professionalism and compassion of both the medical and administrative teams, and had their most important questions answered by world-class SYNGAP1 experts. Despite the long travel and tight schedule, the family left Philadelphia feeling informed, respected, and grateful—knowing that…
…being part of ProMMiS was absolutely worth every mile traveled.
Why Participate?
The importance of participation by as many patients in every study, including the ProMMiS Natural History Study, cannot be overstated. The data collected helps establish endpoints to be used in upcoming and future clinical trials. Our SYNGAP1 ProMMiS sites also have the advantage of allowing patients to be seen and evaluated by doctors and clinicians highly experienced with our particular disease.
Some may not have time, or it might not be convenient to complete studies; it may seem repetitive to fill out all of the surveys; the thought of traveling across the country (or the world!) could be cost prohibitive or unrealistic. But…
…the future for 1,707 global Syngapians can be impacted by your efforts.
From the recent blog, “CURE SYNGAP1 Conference 2025 Science Day – Excitement and Hope on Display in Atlanta!“:
“We know how vital it is to be active, committed participants in research. Scientists can only make progress when they have strong, accurate data—and that data can only come from individuals who actually carry the mutation. We also know the industry is watching, looking to see whether our community is dedicated. (Spoiler: we absolutely are.)”
Thank you to Marcin, his son, and their family as well as numerous other families from Canada, Argentina, the UK, and across the US for traveling near and far, making the effort to go to CHOP, CHCO, or Stanford. Thank you to everyone who participates in other studies from home or in a clinic. Our community is well-known for the eager and widespread participation of our families. If you haven’t yet, we encourage you to join the SYNGAP1 ProMMiS study and all others as well.
- Helpful links to learn more about ENDD/CHOP and participation in the Study can be found here!
- Need financial assistance to get there? – ProMMiS Travel Assistance Program / Programa de Asistencia de Viaje ENDD en Espanol
- Flying with your Syngapian is difficult – consider Angel Flight as an option to a flying commercial.
