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  1. Hereditary angioedema (HAE) is a rare disease with potential life-threatening risks. To study the natural course of HAE under therapy-free conditions throughout patient life is essential for practitioners and ...

    Authors: Yang Cao, Shuang Liu and Yuxiang Zhi

    Citation: Orphanet Journal of Rare Diseases 2020 15:257

    Content type: Research

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  2. The Office of Orphan Products Development (OOPD) of the United States (U.S.) Food and Drug Administration (FDA) has awarded over 700 grants to conduct clinical trials of medicals products for rare diseases sin...

    Authors: Kathleen L. Miller, Christine Mueller, Gumei Liu, Katherine I. Miller Needleman and Janet Maynard

    Citation: Orphanet Journal of Rare Diseases 2020 15:234

    Content type: Research

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  3. Pricing and reimbursement decisions for orphan drugs are faced with differences access between European countries depending on each reimbursement policies, evaluation processes and timings. In 2013, the therap...

    Authors: Xavier Badia, Tania Vico, John Shepherd, Alicia Gil, José Luis Poveda-Andrés and César Hernández

    Citation: Orphanet Journal of Rare Diseases 2020 15:224

    Content type: Research

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  4. Individuals and/or caregivers of individuals affected by spinal muscular atrophy (SMA) completed the 2019 Cure SMA Community Update Survey, online, assessing health-related quality of life (HRQoL), loss of wor...

    Authors: Lisa Belter, Rosángel Cruz and Jill Jarecki

    Citation: Orphanet Journal of Rare Diseases 2020 15:217

    Content type: Research

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  5. Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, also referred to as Müllerian aplasia, is a congenital disorder characterized by aplasia of the uterus and upper part of the vagina in females with normal second...

    Authors: Morten Krogh Herlin, Michael Bjørn Petersen and Mats Brännström

    Citation: Orphanet Journal of Rare Diseases 2020 15:214

    Content type: Review

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  6. Rare diseases are individually rare but globally affect around 6% of the population, and in over 70% of cases are genetically determined. Their rarity translates into a delayed diagnosis, with 25% of patients ...

    Authors: Antonio Atalaia, Rachel Thompson, Alberto Corvo, Leigh Carmody, Davide Piscia, Leslie Matalonga, Alfons Macaya, Angela Lochmuller, Bertrand Fontaine, Birte Zurek, Carles Hernandez-Ferrer, Carola Rheinard, David Gómez-Andrés, Jean-François Desaphy, Katherine Schon, Katja Lohmann…

    Citation: Orphanet Journal of Rare Diseases 2020 15:206

    Content type: Research

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  7. There is increasing recognition that conventional appraisal approaches may be unsuitable for assessing the value rare disease treatments (RDTs). This research examines what supplemental appraisal/reimbursement...

    Authors: Elena Nicod, Amanda Whittal, Michael Drummond and Karen Facey

    Citation: Orphanet Journal of Rare Diseases 2020 15:189

    Content type: Research

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  8. Emerging machine learning technologies are beginning to transform medicine and healthcare and could also improve the diagnosis and treatment of rare diseases. Currently, there are no systematic reviews that in...

    Authors: Julia Schaefer, Moritz Lehne, Josef Schepers, Fabian Prasser and Sylvia Thun

    Citation: Orphanet Journal of Rare Diseases 2020 15:145

    Content type: Review

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  9. Hemophilia, a high-cost disease, is the only rare disease covered by basic medical insurance in all province of China. However, very few studies have estimated the medical expenditure of patients with this rar...

    Authors: Guang-wen Gong, Ying-chun Chen, Peng-qian Fang and Rui Min

    Citation: Orphanet Journal of Rare Diseases 2020 15:137

    Content type: Research

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    The Correction to this article has been published in Orphanet Journal of Rare Diseases 2020 15:239

  10. Behavioral problems are an important issue for people with CHARGE syndrome. The similarity of their behavioral traits with those of people with autism raises questions. In a large national cross-sectional stud...

    Authors: Véronique Abadie, Priscilla Hamiaux, Stéphanie Ragot, Marine Legendre, Gaelle Malecot, Alexia Burtin, Tania Attie-Bitach, Stanislas Lyonnet, Frédéric Bilan, Brigitte Gilbert-Dussardier and Laurence Vaivre-Douret

    Citation: Orphanet Journal of Rare Diseases 2020 15:136

    Content type: Research

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  11. Over the past 30 years, the healthcare industry has increasingly turned its attention to rare diseases. Regulators have emphasized the need for clinical research in this area to be patient-centered. However, t...

    Authors: Sally Lanar, Catherine Acquadro, James Seaton, Isabelle Savre and Benoit Arnould

    Citation: Orphanet Journal of Rare Diseases 2020 15:134

    Content type: Review

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  12. Many treatments developed for rare diseases will have an Orphan Medicinal Product (OMP) designation, indicating that they are likely to deliver benefit in an area of high unmet need. Their approval may be base...

    Authors: Lieven Annemans and Amr Makady

    Citation: Orphanet Journal of Rare Diseases 2020 15:127

    Content type: Position statement

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  13. Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a rare congenital disease characterized by uterovaginal agenesis. The diagnosis of MRKH syndrome generally leads to considerable emotional burdens on patients....

    Authors: Na Chen, Shuang Song, Yanping Duan, Jia Kang, Shan Deng, Hongxin Pan and Lan Zhu

    Citation: Orphanet Journal of Rare Diseases 2020 15:121

    Content type: Research

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  14. Limb-girdle muscular dystrophy recessive 1 calpain3-related (LGMDR1), previously known as LGMD2A, is a disease caused by mutations in the CAPN3 gene. It is characterized by progressive weakness and muscle degener...

    Authors: Leire Casas-Fraile, Frederique M. Cornelis, Domiziana Costamagna, Anabel Rico, Robin Duelen, Maurilio M. Sampaolesi, Adolfo López de Munain, Rik J. Lories and Amets Sáenz

    Citation: Orphanet Journal of Rare Diseases 2020 15:119

    Content type: Research

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  15. Rare diseases affect approximately 350 million people worldwide. Delayed diagnosis is frequent due to lack of knowledge of most clinicians and a small number of expert centers. Consequently, computerized diagn...

    Authors: Carole Faviez, Xiaoyi Chen, Nicolas Garcelon, Antoine Neuraz, Bertrand Knebelmann, Rémi Salomon, Stanislas Lyonnet, Sophie Saunier and Anita Burgun

    Citation: Orphanet Journal of Rare Diseases 2020 15:94

    Content type: Review

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  16. Historical controls (HCs) can be used for model parameter estimation at the study design phase, adaptation within a study, or supplementation or replacement of a control arm. Currently on the latter, there is ...

    Authors: Mercedeh Ghadessi, Rui Tang, Joey Zhou, Rong Liu, Chenkun Wang, Kiichiro Toyoizumi, Chaoqun Mei, Lixia Zhang, C. Q. Deng and Robert A. Beckman

    Citation: Orphanet Journal of Rare Diseases 2020 15:69

    Content type: Review

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  18. Neurofibromatosis type 1 is a relatively common genetic disease, with a prevalence ranging between 1/3000 and 1/6000 people worldwide. The disease affects multiple systems with cutaneous, neurologic, and ortho...

    Authors: Christina Bergqvist, Amandine Servy, Laurence Valeyrie-Allanore, Salah Ferkal, Patrick Combemale and Pierre Wolkenstein

    Citation: Orphanet Journal of Rare Diseases 2020 15:37

    Content type: Position statement

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  19. 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

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  20. 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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  21. 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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  22. 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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  23. 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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  24. 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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  25. 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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  26. 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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  27. 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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  28. 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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  29. 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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  30. 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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  31. 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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  32. 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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  33. 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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  34. 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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  37. 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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  38. 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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  40. 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

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  41. 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

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  42. 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

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172