Introduction Timely assessment of swallowing disorders (dysphagia) by speech pathologists helps minimise patient risk, optimise quality of life, and limit healthcare costs. This study involved a multi-site implementation of a validated model for conducting adult clinical swallowing assessments via telepractice and examined its service outcomes, costs and consumer satisfaction. Methods Five hub-spoke telepractice services, encompassing 18 facilities were established across a public health service. Service implementation support, including training of the telepractice speech pathologists (T-SP) and healthcare support workers in each site, was facilitated by an experienced project officer. New referrals from spoke sites were managed by the hub T-SP as per published protocols for dysphagia assessments via telepractice. Data was collected on existing service models prior to implementation, and then patient demographics, referral information, session outcomes, costs and patient and T-SP satisfaction when using telepractice. Results The first 50 sessions were analysed. Referrals were predominantly for inpatients at spoke sites. Telepractice assessments were completed successfully, with only minor technical issues. Changes to patient management (i.e. food/fluid changes post assessment) to optimise safety or progress oral intake, was required for 64% of patients. Service and cost efficiencies were achieved with an average 2-day reduction in waiting time and an average cost benefit of $218 per session when using the telepractice service over standard care. High clinician and patient satisfaction was reported. Conclusion Telepractice services were successfully introduced across multiple sites, and achieved service and cost benefits with high consumer satisfaction.

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Purpose While research has confirmed the feasibility and validity of delivering clinical swallowing evaluations (CSEs) via telepractice, challenges exist for clinical implementation. Using an implementation framework, strategies that supported implementation of CSE services via telepractice within 18 regional/rural sites across five health services were examined. Method A coordinated implementation strategy involving remote training and support was provided to 18 sites across five health services (five hub and spoke services) that had identified a need to implement CSEs via telepractice. Experiences of all 10 speech-language pathologists involved at the hub sites were examined via interviews 1 year post implementation. Interview content was coded using the Consolidated Framework for Implementation Research (CFIR) and constructs were rated for strength and direction of influence, using published CFIR coding conventions. Results Services were established and are ongoing at all sites. Although there were site-specific differences, 10 CFIR constructs were positive influencing factors at all five sites. The telepractice model was perceived to provide clear advantages for the service, and clinicians were motivated by positive patient response. Strategies used to support implementation, including having a well-organized implementation resource and an external facilitator who worked closely with the local champions, were highly valued. Two CFIR constructs, Structural Characteristics and Available Resources , were challenges for all sites. Conclusions A complex interplay of factors influenced service implementation at each site. A strong local commitment to improving patient care, and the assistance of targeted strategies to support local implementation were viewed as central to enabling implementation.

Objectives:This study aims to explore the impact of Charcot-Marie-Tooth disease type 1A (CMT1A) and its treatment on patients in European (France, Germany, Italy, Spain, and the United Kingdom) and US real-world practice. Methods:Adults with CMT1A (n ¼ 937) were recruited to an ongoing observational study exploring the impact of CMT. Data were collected via CMT&Me, an app through which participants completed patientreported outcome measures. Results:Symptoms ranked with highest importance were weakness in the extremities, difficulty in walking, and fatigue. Almost half of participants experienced a worsening of symptom severity since diagnosis. Anxiety and depression were each reported by over one-third of participants. Use of rehabilitative interventions, medications, and orthotics/walking aids was high. Conclusions:Patient-reported burden of CMT1A is high, influenced by difficulties in using limbs, fatigue, pain, and impaired quality of life. Burden severity appears to differ across the population, possibly driven by differences in rehabilitative and prescription-based interventions, and country-specific health care variability.

Charcot-Marie-Tooth disease (CMT) is a rare, chronic, progressive motor and sensory neuropathy affecting the peripheral nervous system. This study will explore the real-world impact of CMT. The trial is a digital study of approximately 2000 people in 6 countries with CMT ≥18 years. Participants will use a smartphone application to check eligibility, provide consent and contribute data. The dataset will include a personal profile, covering demographics, lifestyle, diagnosis and treatment and a selection of validated generic and disease-specific instruments. Participants will provide data for up to 2 years. Data analysis will be conducted upon registration of the 1000th participant and at 12-month intervals from launch. This study is designed to help researchers and clinicians understand the real-world impact of CMT and the unmet needs of patients. ClinicalTrials.gov identifier: NCT03782883

Background Charcot-Marie-Tooth disease (CMT) is a rare, chronic, progressive motor and sensory neuropathy that affects the peripheral nervous system, leading to progressive, predominantly distal muscle weakness, atrophy, sensory loss and progressive limb dysfunction. As with many rare diseases, there is a lack of patient-reported data with which to understand and address patient needs. This study aims to explore the real-world impact of CMT from the patient perspective. Methods This is a prospective, digital lifestyle study of at least 2,000 people with CMT, >18 years, resident in the following countries: France, Germany, Italy, Spain, the UK and the USA. Participants will be recruited using community-based methods, via patient advocacy groups, social media, and word of mouth. Participants will use a smartphone application (CMT&Me) to check eligibility, provide consent, and contribute data. The dataset will include: 1) personal profile on enrolment – demographics, lifestyle characteristics, diagnosis, and current and previous treatments; 2) a selection of validated generic and disease-specific patient-reported outcome instruments: EuroQol 5 Dimensions 5 Levels (EQ-5D-5L), Brief Fatigue Inventory (BFI), Patient-Reported Outcomes Measurement Information System (PROMIS™) Pain Intensity 3a, Pain Interference 6b and Sleep Disturbance 8a, Work Limitations Questionnaire (WLQ), Falls Efficacy Scale – International (FES-I), Lower Extremity Function Scale (LEFS), and Quick Disabilities of Arm, Shoulder & Hand (QuickDASH). Descriptive data analysis will be conducted upon registration of the 1,000th participant and at 12-monthly intervals from study launch. Conclusions This digital, patient-reported study is designed to help researchers and clinicians understand the real-world impact of CMT and the unmet needs of patients.

was to define which criteria and HTA tools were applied in the decision-process on the health technology assessment process for high-cost drugs for rare genetic diseases and compare the Brazilian policies in the area with European Countries policies. Methods: All the processes carried out by CONITEC since its foundation in 2011 were evaluated those with medicines for rare genetic diseases selected, the outcomes of these processes (included in SUS or not included) and HTA tools applied. Results: Cost-benefit analysis and cost-effectiveness were the most frequent analysis applied. The indirect costs were not applied in the analysis and epidemiology was not central for the 'inclusion or not' decision. There were important differences between the evaluation processes in Brazil and in European countries. Conclusions: Despite the heterogeneity difficulties in establishing a health policy for each rare disease, it is important to create rational models to deal with this challenge. Definition of criteria and thresholds could be beneficial to the process.

Objectives: Tenosynovial giant cell tumor (TGCT) is a rare, locally aggressive neoplasm of joints and tendon sheaths. The TGCT Observational Platform Project (TOPP) assessed the health-related quality of life (HRQOL) of patients with TGCT. Methods: TOPP is an observational prospective study conducted in EU and US on adult patients with an histolgically confirmed diagnosis of TGCT, enrolled between November 2016 and March 2019. Patients were followed up for two years. Patient demographics, disease and treatment history, health care resource utilization and patient reported outcomes were collected. Patient were stratified by severity (moderate versus severe) based on magnetic resonance imaging parameters determined by investigators. EQ-5D-5L questionnaires were administered to patients at baseline, 6 months Follow UP (FU), 18 months FU and 24 months FU. A baseline snapshot was taken from patients available for this analysis. Results: 183 patients were enrolled (median age: 44 years), of which 155 completed EQ-5D-5L. 34.2% of patients experienced moderate or severe disability in mobility, 23.8% had at least slight or moderate problems in self-care, 34.2% suffered moderate or severe problems performing usual activities, 45.8% had moderate or severe pain or discomfort, and 17.4% demonstrated moderate or severe anxiety or depression. Mean (SD) EQ-5D index score was 0.75 (0.21) and mean (SD) visual analogue scale (VAS) score was 69.1 (20.57). For patients with a moderate disease extent mean index score was 0.76 and VAS score was 70, while for patients with a severe disease extent, mean index score was 0.75 and VAS score was 68.7. EQ-5D-5L index score for TGCT patients varied from 0.62 in Germany to 0.84 in France and VAS score varied from 60.38 in Germany to 75.5 in US. Conclusions: Patients with TGCT in TOPP registry reported a relatively low HRQOL compared to the general population. No significant difference according to disease severity and country was observed.