A National Spinal Muscular Atrophy Registry for Real-World Evidence.

BACKGROUND: 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. METHODS: 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. RESULTS: 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. CONCLUSION: 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.

"How do you live without a stomach?": a multiple case study examination of total gastrectomy for palliation or prophylaxis.

OBJECTIVE: 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). METHOD: 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. RESULTS: 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.

Feasibility study of a telehealth delivered, psychoeducational support group for allogeneic hematopoietic stem cell transplant patients.

OBJECTIVE: This study investigates the feasibility and efficacy of a telehealth delivered psychoeducational support group for allogeneic hematopoietic stem cell transplant (AHSCT) survivors. METHODS: All AHSCT survivors 0-3 years post-transplant from the Tom Baker Cancer Centre, Calgary, Alta., Canada were contacted over a 4-year period and invited to participate. Groups were led by trained facilitators and the didactic content included many of the concerns commonly reported by AHSCT survivors. Participants met with facilitators and other group members via videoconferencing equipment located at various community health centres across Alberta, British Columbia, and Saskatchewan. RESULTS: Of the 19 AHSCT survivors who chose to participate, 74% attended five or more of the six sessions and 100% stated that they were satisfied with the program. The groups were found to be feasible and well liked by all participants. While participants appeared to have gained a greater appreciation of life, they did not demonstrate any significant improvements in quality of life, spirituality and meaning making, distress, or positive growth as measured by the questionnaires in the pre/post-package. CONCLUSIONS: Attendance and satisfaction ratings suggest that participants gleaned some benefit from participation. Psychoeducational support groups via videoconferencing may provide a viable alternative for those with limited access to psychosocial support. Clearly, more rigorous research is required to determine the utility of these psychoeducational support groups.

Telehealth-delivered group smoking cessation for rural and urban participants: feasibility and cessation rates.

BACKGROUND: Large-group behavioral smoking cessation interventions are effective for helping people quit smoking, but have not been evaluated using videoconferencing technology for rural and remote participants who have no access to in-person cessation programs. The objectives of this study were to provide and evaluate an evidence-based group smoking cessation program for rural/remote smokers wishing to quit through a Telehealth videoconferencing link at their local Health Centre. METHODS: From September 2005 through April 2008, eight separate eight-session, 4 month long smoking cessation group programs were offered both in person to urban participants in Calgary and at up to six rural sites simultaneously via Telehealth videoconferencing. Quit rates were assessed at program completion, 6 and 12 month follow-up. Participants also provided evaluations of the program and technology. RESULTS: 554 smokers participated in the program: 370 in Calgary and 184 at various remote sites. Sixteen Telehealth sites participated from across Alberta and one site from the Northwest Territories. After program completion, continuous abstinence rates using the most conservative intent-to-treat method were 27.5% in Calgary and 25.5% for the rural Telehealth sites. Quit numbers were much higher using only Available Data at 39.2% for Calgary and 37.2% for the rural sites. Similar rates were maintained over the 12-month follow-up. Program evaluations were positive. CONCLUSIONS: It is possible to offer effective smoking cessation to small groups of patients in rural or remote locations through Telehealth videoconferencing technology, which produces quit rates similar to in-person groups.