Lay Abstract
Focus groups and surveys from adult patients with desmoid tumor emphasize that there is a negative impact of the disease and treatment on their daily lives. Patient-reported outcomes (PROs) assessments are questionnaire measures of patients’ symptoms, functioning, and health-related quality of life. The first PRO Tool in desmoid tumor has identified 11 symptoms and 17 psychosocial parameters as critical to the adult patient experience. This PRO tool is being tested in adult clinical trials for desmoid tumor. To our knowledge, there are no studies collecting quality of life or PROs data specifically in children with desmoid tumor. There is an important need to learn about the challenges facing pediatric patients with desmoid tumors and the effects (good or bad) of treatment on daily living that may not be obvious by routine scans. In order to address this need, we will evaluate the desmoid-specific adult PRO tool in children as well as a quality of life questionnaire for children called Patient Reported Outcomes Measurement Information System (PROMIS) in the pediatric clinical trial of the gamma secretase inhibitor nirogracestat. We plan to collect questionnaires before the study treatment starts, different times during treatment and at the end of treatment.
Scientific Abstract
For some patients, desmoid tumor is a chronic disease associated with functional impairment and pain which negatively impacts psychosocial and emotional well-being. A better understanding of the effects of the disease and interventions on quality of life in these patients, adults and pediatrics, is needed. Patient-reported outcomes (PROs) assessments are questionnaire measures of patients’ symptoms, functioning, and health-related quality of life. The first prospectively developed PRO Tool in desmoid tumor for adults has identified 11 symptoms and 17 psychosocial parameters as critical to the patient experience. Prospective validation studies of this tool are ongoing in adult trials for desmoid tumors. There are no studies collecting quality of life or PROs data specifically in children with desmoid tumor. In order to address this gap in knowledge, in the prospective pediatric clinical trial of the gamma secretase inhibitor nirogacestat, we will utilize at various time points during therapy this tool as well as a validated quality of life assessments for children called Patient Reported Outcomes Measurement Information System (PROMIS), to gain a better understanding of the challenges facing pediatric patients with symptomatic desmoid tumors and to assess whether disease outcomes (i.e., tumor response and PFS) with the study drug correlate with PROs. There is anecdotal evidence that the benefits of systemic therapies may be underestimated by imaging response in this disease. We will explore whether PROs correlate with imaging response assessments and outcome.
