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Additional file 4: Table 3. Serum calcium levels.

Additional file 3: Table 2. Wound areas.

Additional file 1: Fig. 1. Flow diagram for crossover study.

Additional file 2: Table 1. Information on patients.

Additional file 5: Supplementary Fig. 5. Main sources of knowledge about clinical studies. The main sources of knowledge about clinical studies in this study cohort were the EB-newsletter ( https://www.debra-austria.org/newsletter ) 63.9%, n = 23), the patient groups DEBRA Austria and Italy (61.1%, n = 22), the EB House Salzburg (47.2%, n = 17), internet (41.7%, n = 15), and annual DEBRA Austria meetings (13.9%, n = 3). Three participants (8.3%) stated to have lacked any sources.

Additional file 1: Supplementary Fig. 1. Patient questionnaire (translated into English, original version in German).

Additional file 3: Supplementary Fig. 3a-c. Subgroup results - young (0–17 years of age) versus old (≥18 years of age). Graphical representation of the responses of age-subgroups (patients 0–17 years and patients 18 years of age or older). The numbers in the columns represent respondents for each option. By combining Likert scala points 1 and 2 as well as 4 and 5, we found that younger patients had a significant higher desire for better treatment options (75.0% vs 35.3%, p = 0.041), were significantly less averse to participate (8.3% [1/12] vs 44.4% [8/18], p = 0.040) and rated “the failure to meet inclusion criteria” a significantly less important barrier (10.0% vs 62.5%, p = 0.011)(*).

Additional file 2: Supplementary Fig. 2a-c. Subgroup results – mild versus severe. Graphical representation of subgroup responses referring to diseases severity (patients with mild EB versus patients with severe EB). The numbers in the columns represent respondents for each option. By combining Likert scala points 1 and 2 as well as 4 and 5 we identified significant relations between disease severity and responses to three questions (*): a) The “desire for better treatment options” was higher in the severe group (73.3% vs 30.8%, p = 0.030); b) “Study visits can be organized via telemedicine or telephone” is more important for the mild group (90.0% vs 46.7%, p = 0.024); c) The “extent of scheduled invasive investigations (e.g. blood taking, biopsy)” that is a more important argument against participation for the severe subgroup (46.7% vs 7.7%, 0 = 0.029). Arguments for and against participation in a study were sorted by the subgroup’s total mean values in descending order.

Summary Accurately addressing the diverse and complex issues of rare diseases (RD) in terms of prevention, recognition, diagnosis, treatment, care and research along key RD specificities, such as great heterogeneity, a limited number of patients, scarcity of relevant knowledge and expertise as well as enormous costs for patient care is a challenging task for healthcare providers and authorities that makes a supranational approach particularly feasible. The European Union has acknowledged RD matters by several initiatives, including efforts to implement national centres of expertise and European reference networks as well as a cross-border referral mechanism to foster access to expert services and to boost dissemination of clinical expertise and research activities. Exemplified by the EB House Austria, a centre of expertise for epidermolysis bullosa cross-linked with international reference partner institutions, this strategy proves its potential to be translated into optimized patient care and to meet the major medical, scientific, social and health-economic impact of RD.

Table of contents O1 The European Social Preferences Measurement (ESPM) study project: social cost value analysis, budget impact, commercial life cycle revenue management, and the economics of biopharmaceutical Research & Development (R&D) Michael Schlander, Søren Holm, Erik Nord, Jeff Richardson, Silvio Garattini, Peter Kolominsky-Rabas, Deborah Marshall, Ulf Persson, Maarten Postma, Steven Simoens, Oriol de Solà Morales, Keith Tolley, Mondher Toumi, Harry Telser O2 Newborn Screening: the potential and the challenges James R Bonham O3 Untreatable disease outcomes - how would we measure them? Helmut Hintner, Anja Diem, Martin Laimer O4 Taking Integrated Care Forward: Experiences from Canada to inspire service provision for people living with rare disease in Europe Réjean Hébert O5 Listening to the patient’s voice: social media listening for safety and benefits in rare diseases Nabarun Dasgupta, Carrie E. Pierce, Melissa Jordan O6 Via Opta: Mobile apps making visually impaired patients’ lives easier Barbara Bori, Mohanad Fors, Emilie Prazakova O7 A report of the IRDiRC “Small Population Clinical Trial” Task Force Simon Day O8 HAE patient identification and diagnosis: An innovative, ‘game changing’ collaboration Thomas J. Croce Jr. O9 Co-creating with the community: primary packaging & administration for people with haemophilia Jonas Fransson, Philip Wood O10 Go with Gaucher, taking forward the next generation. How to involve young people to create a new generation of patient advocates Anne-Grethe Lauridsen, Joanne Higgs, Vesna Stojmirova Aleksovska P1 ODAK – Orphan Drug for Acanthamoeba Keratitis Christina Olsen, Ritchie Head, Antonio Asero, Vincenzo Papa, Christa van Kan, Loic Favennec, Silvana Venturella, Michela Salvador, Alan Krol P5 Rare Navigators help people living with rare diseases to manage the social – and healthcare systems Stephanie J. Nielsen, Birthe B. Holm P6 The eAcademy for Tay-Sachs & Sandhoff disease app Daniel Lewi, Patricia Durão P10 The role of a patient organisation in driving the research agenda in a rare disease Heather Band, Andrea West P13 Expertise for rare diseases mapped Marinda J.A. Hammann, Marije C. Effing-Boele, Hanka K. Dekker P14 The hidden costs of rare diseases: a feasibility study Amy Hunter, Amy Simpson P15 FDA’s new natural history grant program: support to build a solid foundation for development of products for rare diseases Gumei Liu, Katherine Needleman, Debra Lewis, Gayatri Rao P17 Understanding the wider impact of adrenal insufficiency: patient organisation involvement in the TAIN project Amy Simpson, Amy Hunter, Martin J Whitaker P20 Bridging the gaps between medical and social care for people living with a rare disease Raquel Castro

(VLID)2704563

We aimed to develop and validate a novel rating scale for multiple system atrophy (Unified Multiple System Atrophy Rating Scale - UMSARS). The scale comprises the following components: Part I, historical, 12 items; Part II, motor examination, 14 items; Part III, autonomic examination; and Part IV, global disability scale. For validation purposes, 40 MSA patients were assessed in four centers by 4 raters per center (2 senior and 2 junior raters). The raters applied the UMSARS, as well as a range of other scales, including the Unified Parkinson's Disease Rating Scale (UPDRS) and the International Cooperative Ataxia Rating Scale (ICARS). Internal consistency was high for both UMSARS-1 (Crohnbach's alpha = 0.84) and UMSARS-II (Crohnbach's alpha = 0.90) sections. The interrater reliability of most of the UMSARS-I and -II items as well as of total UMSARS-I and -II subscores was substantial (k (w) = 0.6-0.8) to excellent (k (w) > 0.8). UMSARS-II correlated well with UPDRS-III and ICARS (rs > 0.8). Depending on the degree of the patient's disability, completion of the entire UMSARS took 30 to 45 minutes. Based on our findings, the UMSARS appears to be a multidimensional, reliable, and valid scale for semiquantitative clinical assessments of MSA patients.

Establishing the correct diagnosis in newborns presenting with blisters and erosions is not always a straightforward process. Many different disease entities including acquired (i.e., infectious, immunobullous, traumatic) and inherited disorders have to be taken into consideration. Similarities in clinical appearance, colonization and/or superinfections of preexisting skin lesions, as well as the absence of late changes in the neonate often pose significant diagnostic challenges. In this paper we discuss by giving examples the process of making an accurate diagnosis of blistering skin diseases in the neonatal period on the basis of a diagnostic algorithm. In addition, we provide an overview of the rational use and the limitations of laboratory procedures such as microbial testing, routine light microscopy, immunofluorescence antigen mapping, transmission electron microscopy, and molecular genetic analysis.