I had the pleasure of attending the 15th Pediatric and Wildtype Clinic along with Becky Owens from GIST Support International as patient advocates. The Clinic was held at the National Institute of Health in Bethesda, MD on July 5-7, 2017. The Clinic is a collaboration between clinicians and researchers to collect data, investigate and develop treatments for GIST patients who do not have either c-KIT or PDGFR mutations. This includes patients with Carney’s Triad, Carney-Stratakis Dyad and what has been referred to as wildtype GIST, or Pediatric-like GIST. These tumors frequently stain negatively for a protein called Succinate Dehydrogenase, a condition referred to as being Succinate Dehydrogenase Deficient (SDH Deficient).
Inspired by the vision of Norman Scherzer, Dr. Lee Helman and others, the clinic brings patients together from around the country to have their case reviewed by an expert. While attending the clinic, they undergo a round of appointments including blood work, pathology, meeting with a social worker and have a review of their case by the consulting NIH physicians on hand.
In addition to meeting with patients, the research experts gather to discuss updates on the clinical and genetic studies at the NIH.
Specialized support services are provided for the patients and their caregivers, with seminars tailored to their needs.
Each year on the first evening, LRG ex-officio board member Ray Montague hosts an annual dinner for all attendees at a local restaurant followed by socializing, which provides time for the patients and families to network, and to realize that they are not alone.
This year, 11 new patients were seen at the clinic, bringing the total tally since the Clinic’s inception to 163.
While we were there, we had the opportunity to celebrate GIST Awareness Day with patients and families who attended this pediatric clinic. Everyone had the opportunity to meet Tommy Tissue and Dina Data, the symbols of our H.E.R.O. campaign that emphasizes the importance of donating data, tissue and funds for research. They know firsthand how important tissue and data are in finding a cure for their rare diseases. If it wasn’t for tissue and data, we would never know about a special rare type of GIST that impacts many young people. This Clinic set a precedent for collaboration among patients, NIH and multiple clinicians and researchers across institutions to identify special mutations in the succinate dehydrogenase gene that were never thought of as associated with a disease called GIST.
Posing in capes and masks brought home the idea that all our patients are “heroes.”
Becky Owens of GIST Support International has provided a summary of Dr. Lee Helman’s keynote address. The full text can be found here.
Dr. Helman summarized the landscape of treatment, and described new areas of research, including investigating a class of drugs called DNA demethytransferase inhibitors that could possibly demethylate SDH-deficient tumors.
To quote Dr. Helman, “First we have to understand it, then we have to develop treatments. That’s what we are working very hard to do and that is our hope. We’re very appreciative to see all of the Clinic patients, because the more we see you, the more we understand.”
Patients interested in participating in the NIH Pediatric and Wildtype GIST Clinic may contact: Claudia.Derse-Anthony@fnicr.nih.gov.