Risdiplam therapy in adults with 5q-SMA: observational study on motor function and treatment satisfaction.

BACKGROUND: We aimed to describe the experience of a single neuromuscular center in Germany in treating adult spinal muscular atrophy (SMA) patients with risdiplam and to analyze motor function and treatment satisfaction during a follow-up period up to 20 months. METHODS: Fourteen patients with type 2 or 3 SMA (seven with SMA type 2, six with SMA type 3; age range: 18-51) were included. The Revised Upper Limb Module (RULM) and the Hammersmith Functional Motor Scale Expanded (HFMSE) were recorded at baseline and at follow-up (month 4, 8, 12, 16, 20). Treatment adverse events were collected at every follow-up visit. Patients' treatment satisfaction was assessed by the Treatment Satisfaction Questionnaire for Medication (TSQM). RESULTS: Half of the patients reached the 20-month follow-up. Based on the HFMSE score, no patients had clinically meaningful improvement. Twelve remained stable (92.3%), two showed transient clinically meaningful deterioration (15.4%) and one experienced lasting clinically meaningful deterioration (7.7%). Based on the RULM scores, seven patients were either stable or demonstrated clinically meaningful improvement (53.8%) and six showed clinically meaningful deterioration (46.2%). There was no treatment withdrawal during the follow-up. The most common adverse events were skin rash/increased skin sensitivity to sunlight (n = 3), diarrhea (n = 3), aphthous ulcer (n = 3) and abdominal pain (n = 2). Most patients stated to be at least "satisfied" with the medication. CONCLUSIONS: Risdiplam was well tolerated. Half of the patients remained stable or improved after risdiplam initiation. Larger and multicentric studies are needed to better understand the long-term effects of risdiplam in adult SMA.

Physicians' view on sigmoidoscopy as an additionally offered method for colorectal cancer screening.

BACKGROUND: In Germany, colorectal cancer (CRC) screening includes a fecal blood test or colonoscopy, but not a sigmoidoscopy, which has been shown to reduce CRC incidences and mortality. Our aim was to compile physicians' experiences with sigmoidoscopy and their assessments of this procedure being an additional, possible screening method for early CRC detection. METHODS: At the end of 2015, gastroenterologists and internists in Lower Saxony and North Rhine-Westphalia who regularly perform screening colonoscopies in outpatient care were contacted per mail. Standardized telephone interviews consisting of 17 questions and lasting 10-15 minutes were conducted. RESULTS: Nearly two-thirds (56/87) of the respondents reject sigmoidoscopy as an acceptable early detection method. Compared to colonoscopy, key features of the sigmoidoscopy include more favorable patient-related aspects, while procedural aspects, except sedation, clearly rate in favor of the colonoscopy. In the instance that colonoscopy is rejected, 75 % of the physicians consider a sigmoidoscopy to be a possible alternative. CONCLUSIONS: The survey provides important practical insights into outpatient sigmoidoscopy. A majority of the physicians does not support evidence-based sigmoidoscopy for CRC screening. However, individuals who reject a colonoscopy are, in line with the current guideline, identified as a target group for a screening sigmoidoscopy. The benefit from an additionally offered sigmoidoscopy in CRC screening should be further analyzed with special consideration given to the preferences of insurees within the German healthcare system.