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  1. Hereditary angioedema associated to C1 inhibitor deficiency (C1-INH-HAE) is a pathological condition characterized by episodes of subcutaneous swelling and it is frequently associated with discomfort and socia...

    Authors: Livia Savarese, Maria Bova, Assunta Maiello, Angelica Petraroli, Ilaria Mormile, Mauro Cancian, Riccardo Senter, Andrea Zanichelli, Giuseppe Spadaro and Maria Francesca Freda
    Citation: Orphanet Journal of Rare Diseases 2021 16:23
  2. In 2017, the European Commission has launched the European Reference Networks (ERNs), virtual networks involving healthcare providers across Europe. The aim of the ERNs is to tackle complex and rare diseases a...

    Authors: Rosaria Talarico, Sara Cannizzo, Valentina Lorenzoni, Diana Marinello, Ilaria Palla, Salvatore Pirri, Simone Ticciati, Leopoldo Trieste, Isotta Triulzi, Enrique Terol, Anna Bucher and Giuseppe Turchetti
    Citation: Orphanet Journal of Rare Diseases 2020 15:347

    The Correction to this article has been published in Orphanet Journal of Rare Diseases 2021 16:146

  3. Rare diseases (RDs) in rheumatology as a group have a high prevalence, but randomized controlled trials are hampered by their heterogeneity and low individual prevalence. To survey the current evidence of phar...

    Authors: Tim T. A. Bender, Judith Leyens, Julia Sellin, Dmitrij Kravchenko, Rupert Conrad, Martin Mücke and Matthias F. Seidel
    Citation: Orphanet Journal of Rare Diseases 2020 15:308
  4. For patients with rare diseases (RD), misdiagnosis (or erroneous diagnosis) is one of the key issues that hinder RD patients’ accessibility to timely treatment. Yet, little is known about the main factors that...

    Authors: Dong Dong, Roger Yat-Nork Chung, Rufina H. W. Chan, Shiwei Gong and Richard Huan Xu
    Citation: Orphanet Journal of Rare Diseases 2020 15:307
  5. In the current mobility and globalization context, there is a growing need to identify potential changes on the pattern of diseases in the European Union (EU)/European Economic Area (EEA) and provide accurate ...

    Authors: Ana Requena-Méndez, Zeno Bisoffi, Joan-Lluis Vives-Corrons, Joaquim Gascon and Antoni Plasència
    Citation: Orphanet Journal of Rare Diseases 2020 15:291
  6. Rosai–Dorfman disease (RDD) and IgG4-related (IgG4-RD) disease are both rare diseases, but in some cases, RDD mimics IgG4-RD clinically and pathologically. RDD mimicking IgG4-RDs (RDD mimic IgG4-RD), referring...

    Authors: Li Wang, Wei Li, Shangzhu Zhang, Linyi Peng, Min Shen, Shuoning Song, Wei Zhang, Xinxin Cao, Ruie Feng and Wen Zhang
    Citation: Orphanet Journal of Rare Diseases 2020 15:285
  7. Each rare disease only affects a small number of population. However, a total of 7000 rare diseases may affect 10% of the population. Due to the severity and lack of rare disease awareness, rare disease repres...

    Authors: Xuefeng Li, Zijuan Lu, Jianyong Zhang, Xiangyu Zhang, Shu Zhang, Jincheng Zhou, Bingzhe Li and Li Ou
    Citation: Orphanet Journal of Rare Diseases 2020 15:282
  8. The reimbursement of orphan drugs (OD) is an increasingly important for country policymakers, and still insufficiently understood, especially in Central and Eastern Europe. The aim of this research was to prov...

    Authors: Krzysztof Piotr Malinowski, Paweł Kawalec, Wojciech Trąbka, Christoph Sowada, Guenka Petrova, Manoela Manova, Alexandra Savova, Pero Draganić, Juraj Slabý, Agnes Männik, Kristóf Márky, Zinta Rugaja, Jolanta Gulbinovic, Tomas Tesar and Marian Sorin Paveliu
    Citation: Orphanet Journal of Rare Diseases 2020 15:277
  9. 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
  10. 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
  11. 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
  12. 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
  13. 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
  14. 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 Reinhard, David Gómez-Andrés, Jean-François Desaphy, Katherine Schon, Katja Lohmann…
    Citation: Orphanet Journal of Rare Diseases 2020 15:206

    The Correction to this article has been published in Orphanet Journal of Rare Diseases 2021 16:145

  15. 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
  16. 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
  17. 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

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

  18. 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
  19. 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
  20. 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
  21. 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
  22. 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
  23. 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
  24. 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
  25. 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
  26. 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
  27. 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
  28. 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
  29. 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
  30. 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
  31. 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
  32. 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
  33. 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
  34. 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
  35. 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
  36. 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
  37. 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
  38. 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
  39. 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
  40. 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
  41. 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
  42. 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
  43. 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
  44. 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
  45. 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