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Spinal muscular atrophy (SMA) is a devastating rare disease that affects individuals regardless of ethnicity, gender, and age. The first-approved disease-modifying therapy for SMA, nusinursen, was approved by Health Canada, as well as by American and European regulatory agencies following positive clinical trial outcomes. The trials were conducted in a narrow pediatric population defined by age, severity, and genotype. Broad approval of therapy necessitates close follow-up of potential rare adverse events and effectiveness in the larger real-world population.
The Canadian Neuromuscular Disease Registry (CNDR) undertook an iterative multi-stakeholder process to expand the existing SMA dataset to capture items relevant to patient outcomes in a post-marketing environment. The CNDR SMA expanded registry is a longitudinal, prospective, observational study of patients with SMA in Canada designed to evaluate the safety and effectiveness of novel therapies and provide practical information unattainable in trials.
The consensus expanded dataset includes items that address therapy effectiveness and safety and is collected in a multicenter, prospective, observational study, including SMA patients regardless of therapeutic status. The expanded dataset is aligned with global datasets to facilitate collaboration. Additionally, consensus dataset development aimed to standardize appropriate outcome measures across the network and broader Canadian community. Prospective outcome studies, data use, and analyses are independent of the funding partner.
Prospective outcome data collected will provide results on safety and effectiveness in a post-therapy approval era. These data are essential to inform improvements in care and access to therapy for all SMA patients.
The number of diagnosed cases of stomach cancer in Western countries is relatively small compared to prevalence rates in Eastern populations. This disparity creates a general lack of information and understanding of the experience of patients treated for this disease in North America. Surgical removal of the stomach, also called total gastrectomy (TG), is presently the only curative treatment available to patients with stomach cancer. Considering the impact such a procedure may have, very little is known about what factors influence an individual's postsurgical quality of life (QL).
This article reviews current literature and examines three unique case studies. Semi-structured interviews were analyzed using content analysis, a qualitative analytic approach for reporting combined subject responses.
Participants included one 37-year-old man with multiple polyps in his stomach and a family history of stomach cancer, one 18 year-old man with a confirmed CDH1 mutation and a family history of stomach cancer, and one 33-year-old man with confirmed metastatic gastric adenocarcinoma. Subjective patient experience was categorized into: (1) making the decision, (2) treatment impact, and (3) life after TG. Prior to surgery, all patients carefully evaluated their perceived risk compared to the treatment consequences and indicated that a certain event triggered their decision. The largest treatment impacts were learning to eat again and adjusting to the physical changes. Each patient endorsed that their experience made them appreciate and make the most of life.
Significance of results:
This currently represents the only study to investigate the lived experience of TG for prophylaxis or palliation in individuals with and without genetic risk for stomach cancer. Understanding this process will allow all members of the cancer care team, and the patients themselves, to better understand the factors involved in decision making and postoperative adjustment. Fruitful avenues for future research are discussed.
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