scholarly journals Rare diseases under different levels of economic analysis: current activities, challenges and perspectives

RMD Open ◽  
2018 ◽  
Vol 4 (Suppl 1) ◽  
pp. e000794 ◽  
Author(s):  
Sara Cannizzo ◽  
Valentina Lorenzoni ◽  
Ilaria Palla ◽  
Salvatore Pirri ◽  
Leopoldo Trieste ◽  
...  
Keyword(s):  
Rare Diseases ◽  
Musculoskeletal Diseases ◽  
Orphan Drugs ◽  
Preliminary Review ◽  
Economic Evaluations ◽  
Reference Network ◽  
Health Technologies ◽  
European Reference Network ◽  
New Treatments ◽  
Different Levels

Rare diseases imply clinical and economic burden as well as a significant challenge for health systems. One relevant objective of the activities planned within the European Reference Network on Rare and Complex Connective Tissue and Musculoskeletal Diseases (ERN ReCONNET) is to address the economic dimensions of rare diseases to identify, develop and suggest strategies to improve research and patients’ access to orphan drugs (ODs) and highly specialised health technologies. This paper presents a preliminary review of the existing policies on rare diseases in the countries of the Network members. It also introduces and discusses the theme of how to perform health economic evaluations of rare diseases and of existing or new treatments for rare diseases. To obtain a preliminary overview aiming at defining the state of the art of rare diseases policies and initiatives in ERN ReCONNET countries, we collected and analysed the rare diseases national plans of all the eight countries of the ERN ReCONNET participants. The preliminary overview that has been performed showed that in all the ERN ReCONNET countries are in place national plans for rare diseases; however, heterogeneity exists in the reimbursement of ODs, direct provision by the healthcare system, involvement of patients’ associations in decision making and implementation of clinical practice guidelines.

scholarly journals Share your rare with care: a patient corner for the European Reference Networks on Rare Disease

2020 ◽  
Vol 30 (Supplement_5) ◽  
Author(s):  
F Rubba ◽  
E Montella ◽  
I Carannante ◽  
M C Trummolo ◽  
A Simeone ◽  
...  
Keyword(s):  
Rare Disease ◽  
Rare Diseases ◽  
Social Issues ◽  
Orphan Drugs ◽  
University Hospital ◽  
Reference Network ◽  
Disease Heterogeneity ◽  
Health Technologies ◽  
European Reference Network ◽  
Coding Systems

Abstract Background The European Reference Network on Rare Disease (ERN) is focused on providing more equitable care across Europe and creates a network of both medical specialists and patient experts. One relevant objective of the activities planned into the ERNs is to address the economic dimensions of rare diseases in order to develop strategies to improve research and patients' access to orphan drugs (ODs) and highly specialized health technologies. The themes built in these preliminary years were directed toward guidelines and policies concerning reimbursement of ODs and direct provision by the healthcare system. Methods to proceed further in humanization of care we establish involvement of patients' associations in decision making and implementation of clinical practice guidelines. We built in Federico II University Hospital where 12 ERN were aligned a front office corner shared between patients association and hospital direction in order to face the patient difficulties along the pathway. The corner is open three times a week on the morning, with a dedicated phone number. Results Main issues regarded the understanding of the disease and the diagnosis (ie, lack of familiarity with the rare disease, disease heterogeneity, lack of established diagnostic criteria, misdiagnosis,) the development of effective treatments and the need for efficacy along the path way of care (ie, geographical limitations, disease coding systems, ethical and privacy issues). Fewer concerns were about the equity of access and other social pressures. Conclusions In general, in ERN context, few people declared to work in human and social issues, including research on patient's quality of life, patient's awareness, or methods for social support. Our findings demonstrated that Patients were positively affected from the corner initiative: this may ameliorate the use of infrastructures offering services, also that rarely known as national and international biobanking platforms, registries and networks. Key messages Humanization of care issues and strategies are nowadays mandatory in rare diseases. Patients are positively affected from shared initiatives.

scholarly journals eHealth for patients with rare diseases: the eHealth Working Group of the European Reference Network on Rare Multisystemic Vascular Diseases (VASCERN)

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Alessia Paglialonga ◽  
Raffaella Gaetano ◽  
Leema Robert ◽  
Marine Hurard ◽  
Luisa Maria Botella ◽  
...  
Keyword(s):  
Rare Diseases ◽  
Working Group ◽  
Vascular Diseases ◽  
Mobile App ◽  
Reference Network ◽  
Training And Education ◽  
Digital Platforms ◽  
Patient Organizations ◽  
European Reference Network ◽  
Strategic Assets

Abstract Background The European Reference Network on Rare Multisystemic Vascular Diseases (VASCERN) was launched in 2017 and involves, to date, 35 highly specialised multidisciplinary expert centres (from the 30 full Healthcare Provider members) coming from 11 countries and more than 70 patient organizations from 16 countries. The eHealth Working Group (WG) of VASCERN was set up to develop practical, patient-centred solutions and strategies for effective use of eHealth tools to answer the needs of patients with multisystemic vascular rare diseases. The eHealth WG Following the identified patients’ needs and following the guiding principles of collaboration and patient-centredness, the eHealth WG was created with the following aims: to develop a mobile app to help patients find expert centres and patient organizations, and to develop resources (Pills of Knowledge, PoK) for training and education via digital platforms (eLearning). The mobile app includes, to date, functionalities that allow users to find expert centres and patient organizations across Europe in the area of rare multisystemic vascular diseases. Discussed app developments include personalized digital patient passports, educational material, emergency management guidelines and remote consultations. Regarding training and education, a variety of PoK have been developed. The PoK cover several topics, target several user groups, and are delivered in various formats so that they are easy-to-use, easy-to-understand, informative, and viable for delivery and sharing through digital platforms (eLearning) including, e.g., the VASCERN YouTube™ channel. Conclusion Overall, the work carried out by the eHealth WG of VASCERN can be seen as a pilot experience that may serve as a basis to for collaborative development of patient-centred eHealth tools that answer the needs of patients with various rare diseases, not limited to rare multisystemic vascular diseases. By expanding the multidisciplinary approach here described, clinical and research networks can take advantage of eHealth services and use them as strategic assets in achieving the ultimate goal of ensuring equity of access to prevention programs, timely and accurate diagnosis and specialized care for patients with rare diseases throughout Europe.

Exploring patient education unmet needs for rare and complex connective tissue and musculoskeletal diseases: A survey of health care providers’ and patients’ expectations in Europe

2020 ◽  
pp. 174239532096861
Author(s):  
Meryem-Maud Farhat ◽  
Alain Cornet ◽  
Charissa Frank ◽  
Ilaria Galetti ◽  
Juergen Grunert ◽  
...  
Keyword(s):  
Health Care ◽  
Patient Education ◽  
Connective Tissue ◽  
Health Care Providers ◽  
Unmet Needs ◽  
Musculoskeletal Diseases ◽  
Connective Tissue Diseases ◽  
Reference Network ◽  
Care Providers ◽  
European Reference Network

Objective The European Reference Network on Rare and Complex Connective Tissue and Musculoskeletal Diseases involves health care providers (HCPs) from 8 European countries and 7 patients’ representatives of European Patient Advocacy Groups. The objective was to evaluate current practice and unmet needs for patient education (PE) in Europe. Methods A questionnaire was sent to HCP members asking about the PE practices and another, to enquire about their needs, was sent to patients’ associations in the different countries. Results The questionnaire was completed by 33 HCPs. Half had no specific staff members dedicated to PE. For HCPs with dedicated staff, 83.3% (n = 11) considered that care providers were insufficient to meet patients’ needs. Most of HCPs would like to see the practice of PE standardized. Sixty eight percent (n = 1093) of patients suffering from connective tissue diseases completed the questionnaire had never heard about PE. Most of them were interested in taking part in a PE program. Discussion Our survey revealed a strong interest in PE among patients and HCP and heterogeneity of practice. PE appeared important for both HCPs and patients. An online course for medical students in Europe will be developed in partnership with EULAR to respond to these unmet needs.

scholarly journals Systemic sclerosis: state of the art on clinical practice guidelines

RMD Open ◽  
2018 ◽  
Vol 4 (Suppl 1) ◽  
pp. e000782 ◽  
Author(s):  
Vanessa Smith ◽  
Carlo Alberto Scirè ◽  
Rosaria Talarico ◽  
Paolo Airo ◽  
Tobias Alexander ◽  
...  
Keyword(s):  
Clinical Practice ◽  
Systemic Sclerosis ◽  
Clinical Practice Guidelines ◽  
Practice Guidelines ◽  
Musculoskeletal Diseases ◽  
Reference Network ◽  
High Morbidity ◽  
Internal Organs ◽  
European Reference Network ◽  
Loss Of Self

Systemic sclerosis (SSc) is an orphan disease characterised by autoimmunity, fibrosis of the skin and internal organs, and vasculopathy. SSc may be associated with high morbidity and mortality. In this narrative review we summarise the results of a systematic literature research, which was performed as part of the European Reference Network on Rare and Complex Connective Tissue and Musculoskeletal Diseases project, aimed at evaluating existing clinical practice guidelines or recommendations. Only in the domains ‘Vascular & Ulcers’ (ie, non-pharmacological approach to digital ulcer), ‘PAH’ (ie, screening and treatment), ‘Treatment’ and ‘Juveniles’ (ie, evaluation of juveniles with Raynaud’s phenomenon) evidence-based and consensus-based guidelines could be included. Hence there is a preponderance of unmet needs in SSc referring to the diagnosis and (non-)pharmacological treatment of several SSc-specific complications. Patients with SSc experience significant uncertainty concerning SSc-related taxonomy, management (both pharmacological and non-pharmacological) and education. Day-to-day impact of the disease (loss of self-esteem, fatigue, sexual dysfunction, and occupational, nutritional and relational problems) is underestimated and needs evaluation.

scholarly journals Idiopathic inflammatory myopathies: state of the art on clinical practice guidelines

RMD Open ◽  
2019 ◽  
Vol 4 (Suppl 1) ◽  
pp. e000784 ◽  
Author(s):  
Alain Meyer ◽  
Carlo Alberto Scirè ◽  
Rosaria Talarico ◽  
Tobias Alexander ◽  
Zahir Amoura ◽  
...  
Keyword(s):  
Clinical Practice ◽  
Clinical Practice Guidelines ◽  
Practice Guidelines ◽  
Unmet Needs ◽  
Musculoskeletal Diseases ◽  
Reference Network ◽  
Idiopathic Inflammatory Myopathies ◽  
Inflammatory Myopathies ◽  
European Reference Network ◽  
Multidisciplinary Working

Idiopathic inflammatory myopathies (IIMs) encompass a heterogeneous group of rare autoimmune diseases characterised by muscle weakness and inflammation, but in antisynthetase syndrome arthritis and interstitial lung disease are more frequent and often inaugurate the disease. Clinical practice guidelines (CPGs) have been proposed for IIMs, but they are sparse and heterogeneous. This work aimed at identifying: i) current available CPGs for IIMs, ii) patients ’ and clinicians’ unmet needs not covered by CPGs. It has been performed in the framework of the European Reference Network on rare and complex connective tissue and musculoskeletal diseases (ReCONNET), a network of centre of expertise and patients funded by the European Union’s Health Programme. Fourteen original CPGs were identified, notably recommending that: i) extra-muscular involvements should be assessed; ii) corticosteroids and methotrexate or azathioprine are first-line therapies of IIMs. ii) IVIG is a treatment of resistant-DM that may be also used in other resistant-IIMs; iii) physical therapy and sun protection (in DM patients) are part of the treatment; v) tumour screening for patients with DM include imaging of chest, abdomen, pelvis and breast (in woman) along with colonoscopy (in patients over 50 years); vi) disease activity and damages should be monitor using standardised and validated tools. Yet, only half of these CPGs were evidence-based. Crucial unmet needs were identified both by patients and clinicians. In particular, there was a lack of large multidisciplinary working group and of patients ’ preferences. The following fields were not or inappropriately targeted: diagnosis; management of extra-muscular involvements other than skin; co-morbidities and severe manifestations.

scholarly journals Current Legislation and Recommended Procedures / Tvorba národného plánu starostlivosti o pacientov so zriedkavými chorobami, súčasná legislatíva a odporúčané postupy

2013 ◽  
Vol 60 (Supplementum-VIII) ◽  
pp. 6-9
Author(s):  
F. Cisarik
Keyword(s):  
Rare Disease ◽  
Rare Diseases ◽  
Reference Network ◽  
National Plan ◽  
Ministry Of Health ◽  
European Reference Network ◽  
The Creation ◽  
Centres Of Expertise

The author elaborates on the requirements for the creation of a national plan for rare disease on the basis of three fundamental parts of the problem: Centres of expertise - European reference network - European registers of rare diseases. He presents some positive examples of the latest developments and points out the difficulties of creation of registers of rare diseases in Europe, as well as in the SR. He emphasizes the role and engagement of the Ministry of Health in the implementation of partial tasks in the process of creation of the national plan and stresses the need to concentrate on a small number of fundamental tasks.

Comparison and analysis of the fda approved orphane drugs registerand the vital and essential drugs list of the Russian Federation

2020 ◽  
pp. 4-16
Author(s):  
D.S. Yurochkin ◽  
◽  
A.A. Leshkevich ◽  
Z.M. Golant ◽  
I.A. NarkevichSaint ◽  
...  
Keyword(s):  
United States ◽  
Russian Federation ◽  
Rare Diseases ◽  
Orphan Drugs ◽  
The United States ◽  
Orphan Diseases ◽  
Essential Drugs ◽  
The Russian Federation ◽  
Comparison And Analysis ◽  
The Government

The article presents the results of a comparison of the Orphan Drugs Register approved for use in the United States and the 2020 Vital and Essential Drugs List approved on October 12, 2019 by Order of the Government of the Russian Federation No. 2406-r. The comparison identified 305 international non-proprietary names relating to the main and/or auxiliary therapy for rare diseases. The analysis of the market of drugs included in the Vital and Essential Drugs List, which can be used to treat rare (orphan) diseases in Russia was conducted.

scholarly journals Pricing of orphan drugs in oncology and rare diseases

2020 ◽  
Vol 8 (1) ◽  
pp. 1838191
Author(s):  
Mark Nuijten ◽  
Stefano Capri
Keyword(s):  
Rare Diseases ◽  
Orphan Drugs
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