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  1. The COVID-19 pandemic is adding an unanticipated concern for those affected by genetic diseases. Most of the new treatment achievements for these patients are made possible as a result of advances in viral-bas...

    Authors: Angel Aledo-Serrano, Antonio Gil-Nagel, Julian Isla, Ana Mingorance, Fernando Mendez-Hermida and Ruben Hernandez-Alcoceba

    Citation: Orphanet Journal of Rare Diseases 2021 16:316

    Content type: Letter to the Editor

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  2. Treatments are often unavailable for rare disease patients, especially in low-and-middle-income countries. Reasons for this include lack of financial support for therapies and onerous regulatory requirements f...

    Authors: William A. Gahl, Durhane Wong-Rieger, Virginie Hivert, Rachel Yang, Galliano Zanello and Stephen Groft

    Citation: Orphanet Journal of Rare Diseases 2021 16:308

    Content type: Research

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  3. RASopathies are a group of syndromes showing clinical overlap caused by mutations in genes affecting the RAS-MAPK pathway. Consequent disruption on cellular signaling leads and is driven by phosphoproteome rem...

    Authors: Javier-Fernando Montero-Bullón, Óscar González-Velasco, María Isidoro-García and Jesus Lacal

    Citation: Orphanet Journal of Rare Diseases 2021 16:303

    Content type: Research

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  4. Tuberous sclerosis complex (TSC) is a rare multisystem autosomal dominant disorder caused by pathogenic variants in either the TSC1 or TSC2 gene. Common manifestations of TSC have been grouped into major and mino...

    Authors: Matthias Sauter, Elena Belousova, Mirjana P. Benedik, Tom Carter, Vincent Cottin, Paolo Curatolo, Maria Dahlin, Lisa D’Amato, Guillaume B. d’Augères, Petrus J. de Vries, José C. Ferreira, Martha Feucht, Carla Fladrowski, Christoph Hertzberg, Sergiusz Jozwiak, John A. Lawson…

    Citation: Orphanet Journal of Rare Diseases 2021 16:301

    Content type: Research

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  5. The number of market approvals of orphan medicinal products (OMPs) has been increasing steadily in the last 3 decades. While OMPs can offer a unique chance for patients suffering from rare diseases, they are u...

    Authors: Bettina M. Zimmermann, Johanna Eichinger and Matthias R. Baumgartner

    Citation: Orphanet Journal of Rare Diseases 2021 16:292

    Content type: Review

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  6. Orphan drug designations are a useful proxy to investigate trends in rare disease drug development. Drug developers must receive a designation before they are eligible for the economic incentives of the Orphan...

    Authors: Kathleen L. Miller, Lewis J. Fermaglich and Janet Maynard

    Citation: Orphanet Journal of Rare Diseases 2021 16:265

    Content type: Research

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  7. Rare diseases are ailments which impose a heavy burden on individual patients and global society as a whole. The rare disease management landscape is not a smooth one—a rare disease is quite often hard to diag...

    Authors: Xiaoshu Cai, Georgi Z. Genchev, Ping He, Hui Lu and Guangjun Yu

    Citation: Orphanet Journal of Rare Diseases 2021 16:262

    Content type: Research

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  8. Kaposiform lymphangiomatosis (KLA), which is a new subtype of generalized lymphatic anomaly, is a rare disease with a poor prognosis. Currently, there is no standard treatment due to the poor understanding of ...

    Authors: Jiangyuan Zhou, Kaiying Yang, Siyuan Chen and Yi Ji

    Citation: Orphanet Journal of Rare Diseases 2021 16:260

    Content type: Research

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  9. Neurofibromatosis Type 1 (NF1) is a genetic disorder that presents with physical symptoms that can negatively impact numerous areas of one’s life, including occupational and psychological functioning, with dec...

    Authors: Frank D. Buono, Matthew E. Sprong, Erina Paul, Staci Martin, Kaitlyn Larkin and Amir Garakani

    Citation: Orphanet Journal of Rare Diseases 2021 16:234

    Content type: Research

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  10. Relapsing polychondritis (RPC) is a rare autoimmune disease and its early diagnosis remains challenging. Defining the clinical patterns and disease course may help early recognition of RPC.

    Authors: Lei Zhang, Shuang Yun, Tiange Wu, Yujie He, Jinyan Guo, Lishuai Han, Jiameng Lu, Xiaojun Liu, Rui Yang, Shitao Zhang, Tianfang Li and Shengyun Liu

    Citation: Orphanet Journal of Rare Diseases 2021 16:225

    Content type: Research

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  11. In the absence of a framework designed to evaluate medicines for rare diseases in the UK, most orphan medicines are appraised by the National Institute for Health and Care Excellence (NICE) through the Single ...

    Authors: Sophie Clarke, Michelle Ellis and Jack Brownrigg

    Citation: Orphanet Journal of Rare Diseases 2021 16:218

    Content type: Research

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  12. Patient access to orphan medicinal products (OMPs) is limited and varies between countries, reimbursement decisions on OMPs are complex, and there is a need for more transparent processes to know which criteri...

    Authors: Fernando de Andrés-Nogales, Encarnación Cruz, Miguel Ángel Calleja, Olga Delgado, Maria Queralt Gorgas, Jaime Espín, Jorge Mestre-Ferrándiz, Francesc Palau, Alba Ancochea, Rosabel Arce, Raquel Domínguez-Hernández and Miguel Ángel Casado

    Citation: Orphanet Journal of Rare Diseases 2021 16:186

    Content type: Research

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  13. In traditional clinical trial design, efficacy is typically assessed using a single primary endpoint in a randomized controlled trial to detect an expected treatment effect of a therapy in a narrowly selected ...

    Authors: P. K. Tandon and Emil D. Kakkis

    Citation: Orphanet Journal of Rare Diseases 2021 16:183

    Content type: Review

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  14. The aim of this scoping review was to overview the cost-of-illness studies conducted in rare diseases.

    Authors: Lidia García-Pérez, Renata Linertová, Cristina Valcárcel-Nazco, Manuel Posada, Inigo Gorostiza and Pedro Serrano-Aguilar

    Citation: Orphanet Journal of Rare Diseases 2021 16:178

    Content type: Review

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  15. The aim was to compare parent and child-reported health-related quality of life (HRQOL) of children born with esophageal atresia (EA) and determine factors that affect the level of parent–child agreement.

    Authors: Stefanie Witt, Michaela Dellenmark-Blom, Susanne Kuckuck, Jens Dingemann, Kate Abrahamsson, Carmen Dingemann, John Eric Chaplin, Benno Ure, Monika Bullinger, Vladimir Gatzinsky, Linus Jönsson and Julia Hannah Quitmann

    Citation: Orphanet Journal of Rare Diseases 2021 16:120

    Content type: Research

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  16. The complexity of the phenotypic characteristics and molecular bases of many rare human genetic diseases makes the diagnosis of such diseases a challenge for clinicians. A map for visualizing, locating and nav...

    Authors: Jian Yang, Cong Dong, Huilong Duan, Qiang Shu and Haomin Li

    Citation: Orphanet Journal of Rare Diseases 2021 16:101

    Content type: Research

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  17. To measure the experience of the person having a rare disease in order to identify objectives for optimal care in the health care received by these patients. Methods. A cross-sectional study was conducted in S...

    Authors: Mercedes Guilabert, Alba Martínez-García, Marina Sala-González, Olga Solas and José Joaquín Mira

    Citation: Orphanet Journal of Rare Diseases 2021 16:67

    Content type: Research

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  18. The aim of this letter to the editor is to provide a comprehensive summary of uncertainty assessment in Health Technology Assessment, with a focus on transferability to the setting of rare diseases. The author...

    Authors: Sabine E. Grimm, Xavier Pouwels, Bram L. T. Ramaekers, Ben Wijnen, Saskia Knies, Janneke Grutters and Manuela A. Joore

    Citation: Orphanet Journal of Rare Diseases 2021 16:62

    Content type: Letter to the Editor

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    The Correction to this article has been published in Orphanet Journal of Rare Diseases 2021 16:320

  19. The coronavirus disease 2019 (COVID-19) pandemic has had unprecedented impact on the provision of medical care for genetic disorders. The purpose of this study was to assess the effects of the pandemic on neur...

    Authors: Heather B. Radtke, Bonita P. Klein-Tasman, Vanessa L. Merker, Pamela Knight, Nicole J. Ullrich, Justin T. Jordan, Bruce Korf and Scott R. Plotkin

    Citation: Orphanet Journal of Rare Diseases 2021 16:61

    Content type: Letter to the Editor

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  20. 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

    Content type: Research

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  21. 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

    Content type: Research

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

  22. 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

    Content type: Review

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  23. 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

    Content type: Research

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  24. 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

    Content type: Position statement

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  25. 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

    Content type: Research

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  26. 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

    Content type: Research

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  27. 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

    Content type: Research

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  28. 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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  29. 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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  30. 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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  31. 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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  32. 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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  33. 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

    Content type: Research

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

  34. 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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  35. 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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  36. 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

  37. 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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  38. 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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  39. 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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  40. 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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  41. 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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  42. 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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  43. 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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  44. 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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  45. 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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  46. 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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  47. 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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