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  1. Rare diseases are a priority objective for public health systems. Given its complexity, late and misdiagnoses occur very often which causes mental and physical burden for patients and family. This would be cau...

    Authors: Enrique Ramalle-Gómara, Elena Domínguez-Garrido, María Gómez-Eguílaz, María Eugenia Marzo-Sola, José Luis Ramón-Trapero and Josefa Gil-de-Gómez

    Citation: Orphanet Journal of Rare Diseases 2020 15:18

    Content type: Research

    Published on:

  2. The low prevalence of European paediatric transplanted patients and scarcity of resources and expertise led to the need for a multidisciplinary network able to improve the quality of life of paediatric patient...

    Authors: P. Jara, A. Baker, U. Baumann, A. M. Borobia, S. Branchereu, M. Candusso, A. J. Carcas, C. Chardot, J. Cobas, L. D’Antiga, C. Ferreras, E. Fitzpatrick, E. Frauca, F. Hernández-Oliveros, P. Kaliciński, C. Lindemans…

    Citation: Orphanet Journal of Rare Diseases 2020 15:16

    Content type: Position statement

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  3. Loeys-Dietz syndrome (LDS) is a rare connective tissue disorder whose oral manifestations and dental phenotypes have not been well-characterized. The aim of this study was to explore the influence of oral mani...

    Authors: Quynh C. Nguyen, Olivier Duverger, Rashmi Mishra, Gabriela Lopez Mitnik, Priyam Jani, Pamela A. Frischmeyer-Guerrerio and Janice S. Lee

    Citation: Orphanet Journal of Rare Diseases 2019 14:291

    Content type: Research

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  4. Rare diseases (RDs) are a large number of diverse conditions with low individual prevalence, but collectively may affect up to 3.5–5.9% of the population. They have psychosocial and economic impact on patients...

    Authors: Gonzalo Encina, Carla Castillo-Laborde, Juan A. Lecaros, Karen Dubois-Camacho, Juan F. Calderón, Ximena Aguilera, Andrés D. Klein and Gabriela M. Repetto

    Citation: Orphanet Journal of Rare Diseases 2019 14:289

    Content type: Position statement

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  5. Orphan medicinal product (OMP) prices are considered by some to be a challenge to the sustainability of healthcare expenditure. These concerns are compounded by the increasing number of OMPs receiving marketin...

    Authors: Jorge Mestre-Ferrandiz, Christina Palaska, Tom Kelly, Adam Hutchings and Adam Parnaby

    Citation: Orphanet Journal of Rare Diseases 2019 14:287

    Content type: Research

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  6. Poland Syndrome (PS) is a rare congenital malformation involving functional and aesthetic impairments. Early diagnosis and timely therapeutic approaches play an important role in improving the quality of life ...

    Authors: Ilaria Baldelli, Fabio Gallo, Marco Crimi, Piero Fregatti, Lorenzo Mellini, Pierluigi Santi and Rosagemma Ciliberti

    Citation: Orphanet Journal of Rare Diseases 2019 14:269

    Content type: Research

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  7. Faces are critical social cues that must be perfectly processed in order to engage appropriately in everyday social interactions. In Prader-Willi Syndrome (PWS), a rare genetic disorder characterized by cognit...

    Authors: Jimmy Debladis, Marion Valette, Kuzma Strenilkov, Carine Mantoulan, Denise Thuilleaux, Virginie Laurier, Catherine Molinas, Pascal Barone and Maïthé Tauber

    Citation: Orphanet Journal of Rare Diseases 2019 14:262

    Content type: Research

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  8. Orphan medicinal products (OMPs) are intended for the diagnosis, prevention, management or treatment of rare diseases (RDs). Each RD affects only a small fraction of the population, and therefore, historically, i...

    Authors: Mohua Chakraborty Choudhury and Gayatri Saberwal

    Citation: Orphanet Journal of Rare Diseases 2019 14:241

    Content type: Research

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  9. Rare diseases are one of the major challenges in the era of precision medicine and reflect the social security level of minority groups. This study aimed to investigate healthcare service utilization and healt...

    Authors: Rui Min, Xiaoyan Zhang, Pengqian Fang, Biyan Wang and He Wang

    Citation: Orphanet Journal of Rare Diseases 2019 14:204

    Content type: Research

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  10. Hereditary angioedema (HAE) is a rare but serious condition characterized by unpredictable and recurrent attacks affecting the skin and mucosa. HAE has wide-ranging impacts on the health-related quality of lif...

    Authors: Shuang Liu, Xue Wang, Yingyang Xu, Qun Xu and Yuxiang Zhi

    Citation: Orphanet Journal of Rare Diseases 2019 14:191

    Content type: Research

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  11. Within the 21 APEC economies alone, there are an estimated 200 million individuals living with a rare disease. As such, health data on these individuals, and hence patient registries, are vital. However, regis...

    Authors: Matthew I. Bellgard, Tom Snelling and James M. McGree

    Citation: Orphanet Journal of Rare Diseases 2019 14:176

    Content type: Position statement

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  12. The needs and benefits of sharing health data to advance scientific research and improve clinical benefits have been well documented in recent years, specifically in the field of rare diseases where knowledge ...

    Authors: Sandra Courbier, Rebecca Dimond and Virginie Bros-Facer

    Citation: Orphanet Journal of Rare Diseases 2019 14:175

    Content type: Research

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  13. According to rough estimates, there are approximately 150,000 rare disease patients in Slovenia (out of a total population of 2 million). Despite the absence of accurate epidemiological data on their status, t...

    Authors: Dalibor Stanimirovic, Eva Murko, Tadej Battelino and Urh Groselj

    Citation: Orphanet Journal of Rare Diseases 2019 14:172

    Content type: Research

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  14. There are many public health issues to resolve regarding rare diseases, including a lack of data from large-scale studies. The objective of this study was to explore fundamental data for a list of rare disease...

    Authors: Xinmiao Shi, Hui Liu, Siyan Zhan, Zhaoxia Wang, Lin Wang, Chongya Dong, Yanfang Wang, Chen Yao, Jie Ding and Yan Li

    Citation: Orphanet Journal of Rare Diseases 2019 14:160

    Content type: Research

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  15. Given the inherent complexity of rare paediatric diseases and the sensitive emotional context of the situations they create (due to the patients’ age and the tense uncertainty surrounding the progression of th...

    Authors: Beni Gómez-Zúñiga, Rafael Pulido Moyano, Modesta Pousada Fernández, Alicia García Oliva and Manuel Armayones Ruiz

    Citation: Orphanet Journal of Rare Diseases 2019 14:159

    Content type: Research

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  16. Orphan medicines show some characteristics that hinder the evaluation of their clinical added value. The often low level of evidence available for orphan drugs, together with a high budget impact and an increm...

    Authors: Laura Guarga, Xavier Badia, Mercè Obach, Manel Fontanet, Alba Prat, Atonio Vallano, Josep Torrent and Caridad Pontes

    Citation: Orphanet Journal of Rare Diseases 2019 14:157

    Content type: Research

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  17. In Canada, reimbursement recommendations on drugs for common and rare diseases are overseen by the Canadian Agency for Drugs and Technologies in Health (CADTH) and made through the pan-Canadian Oncology Drug R...

    Authors: Fernanda Naomi Inagaki Nagase, Tania Stafinski, Jian Sun, Gian Jhangri and Devidas Menon

    Citation: Orphanet Journal of Rare Diseases 2019 14:127

    Content type: Research

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  18. Rare diseases affecting the teeth, the oral cavity and the face are numerous, each of them present specific characteristics, and is a life-long condition. The aim of the study was to assess the association bet...

    Authors: Lisa Friedlander, Ariane Berdal, Priscilla Boizeau, Brigitte Alliot Licht, Marie-Cécile Manière, Arnaud Picard, Olivier Azzis, Marie-Paule Vazquez, Corinne Alberti and Muriel De La Dure Molla

    Citation: Orphanet Journal of Rare Diseases 2019 14:124

    Content type: Research

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  19. Rare diseases are an important public health issue with high unmet need. The introduction of the EU Regulation on orphan medicinal products (OMP) has been successful in stimulating investment in the research a...

    Authors: Lieven Annemans, Ségolène Aymé, Yann Le Cam, Karen Facey, Penilla Gunther, Elena Nicod, Michele Reni, Jean-Louis Roux, Michael Schlander, David Taylor, Carlo Tomino, Josep Torrent-Farnell, Sheela Upadhyaya, Adam Hutchings and Lugdivine Le Dez

    Citation: Orphanet Journal of Rare Diseases 2017 12:50

    Content type: Position statement

    Published on:

  20. Sapropterin dihydrochloride, a synthetic formulation of BH4, the cofactor for phenylalanine hydroxylase (PAH, EC 1.14.16.1), was initially approved in Europe only for patients ≥4 years with BH4-responsive phenylk...

    Authors: Ania C. Muntau, Alberto Burlina, François Eyskens, Peter Freisinger, Corinne De Laet, Vincenzo Leuzzi, Frank Rutsch, H. Serap Sivri, Suresh Vijay, Milva Orquidea Bal, Gwendolyn Gramer, Renata Pazdírková, Maureen Cleary, Amelie S. Lotz-Havla, Alain Munafo, Diane R. Mould…

    Citation: Orphanet Journal of Rare Diseases 2017 12:47

    Content type: Research

    Published on:

  21. Since the introduction of the orphan drugs legislation in Europe, it has been suggested that the general method of assessing drugs for reimbursement is not necessarily suitable for orphan drugs. The National I...

    Authors: C. Schey, P. F. M. Krabbe, M. J. Postma and M. P. Connolly

    Citation: Orphanet Journal of Rare Diseases 2017 12:10

    Content type: Research

    Published on:

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