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  1. The transient receptor potential cation channel subfamily V member 2 (TRPV2) is a stretch-sensitive calcium channel. TRPV2 overexpression in the sarcolemma of skeletal and cardiac myocytes causes calcium influ...

    Authors: Tsuyoshi Matsumura, Hiroya Hashimoto, Masahiro Sekimizu, Akiko M. Saito, Yasufumi Motoyoshi, Akinori Nakamura, Satoshi Kuru, Takayasu Fukudome, Kazuhiko Segawa, Toshiaki Takahashi, Takuhisa Tamura, Tetsuo Komori, Chigusa Watanabe, Masanori Asakura, Koichi Kimura and Yuko Iwata
    Citation: Orphanet Journal of Rare Diseases 2022 17:201
  2. Advances in genomic sequencing and genetic testing are increasingly transforming the diagnosis and treatment of diseases—specifically, rare diseases. However, the application and benefit of such technologies r...

    Authors: Lynsey Chediak, Nicola Bedlington, Ayesha Gadson, Alastair Kent, Aiedah Abdul Khalek, Luke Rosen, Malisa Rust, Mohd. Farooq Shaikh, Meng Yoe Tan, Samuel Agyei Wiafe, Gareth Baynam and Charles A. Steward
    Citation: Orphanet Journal of Rare Diseases 2022 17:191
  3. Design and analysis of clinical trials for rare and ultra-rare disease pose unique challenges to the practitioners. Meeting conventional power requirements is infeasible for diseases where sample sizes are inh...

    Authors: Kelley M. Kidwell, Satrajit Roychoudhury, Barbara Wendelberger, John Scott, Tara Moroz, Shaoming Yin, Madhurima Majumder, John Zhong, Raymond A. Huml and Veronica Miller
    Citation: Orphanet Journal of Rare Diseases 2022 17:186
  4. Rare disease patients face many challenges including diagnostic delay, misdiagnosis and lack of therapies. However, early access to diagnosis and therapies can modify the management and the progression of dise...

    Authors: Galliano Zanello, Chun-Hung Chan and David A. Pearce
    Citation: Orphanet Journal of Rare Diseases 2022 17:181
  5. Ågrenska, a Swedish national centre for rare diagnoses and health conditions, has arranged courses for families of children with rare diagnoses for over thirty years, and has experienced that the conditions of...

    Authors: Gunilla Jaeger, AnnCatrin Röjvik, Erland Hjelmquist, André Hansla and Kerstin W. Falkman
    Citation: Orphanet Journal of Rare Diseases 2022 17:165
  6. To provide a comprehensive assessment of the total economic burden of rare diseases (RD) in the United States (U.S.) in 2019. We followed a prevalence-based approach that combined the prevalence of 379 RDs wit...

    Authors: Grace Yang, Inna Cintina, Anne Pariser, Elisabeth Oehrlein, Jamie Sullivan and Annie Kennedy
    Citation: Orphanet Journal of Rare Diseases 2022 17:163
  7. The small patient populations inherent to rare genetic diseases present many challenges to the traditional drug development paradigm. One major challenge is generating sufficient data in early phase studies to...

    Authors: Lingshan Wang, Jie Wang, Ji Feng, Mary Doi, Salvatore Pepe, Michael Pacanowski and Robert N. Schuck
    Citation: Orphanet Journal of Rare Diseases 2022 17:156
  8. Most craniofacial manifestations of neurofibromatosis type 1 (NF1) are considered as a result of tumor compression. We sought to determine salivary changes, caries, and periodontal complications in NF1 patient...

    Authors: Eshwar Thota, John Jims Veeravalli, Sai Krishna Manchala, Bhargavi Priya Lakkepuram, Jayasurya Kodapaneni, Yi-Wen Chen, Li-Tzu Wang and Kevin Sheng-Kai Ma
    Citation: Orphanet Journal of Rare Diseases 2022 17:93
  9. Prader-Willi syndrome (PWS), is a genetically determined neurodevelopmental disorder, associated with intellectual disabilities and a high incidence of obesity, diabetes mellitus, and respiratory disorders. We...

    Authors: J. E. Whittington, A. J. Holland, D. J. Driscoll, N. Hodebeck-Stuntebeck and A. Hoctor
    Citation: Orphanet Journal of Rare Diseases 2022 17:69
  10. In individuals suffering from a rare disease the diagnostic process and the confirmation of a final diagnosis often extends over many years. Factors contributing to delayed diagnosis include health care profes...

    Authors: Helge Hebestreit, Cornelia Zeidler, Christopher Schippers, Martina de Zwaan, Jürgen Deckert, Peter Heuschmann, Christian Krauth, Monika Bullinger, Alexandra Berger, Mark Berneburg, Lilly Brandstetter, Anna Deibele, Jan Dieris-Hirche, Holm Graessner, Harald Gündel, Stephan Herpertz…
    Citation: Orphanet Journal of Rare Diseases 2022 17:47
  11. Experienced fatigue is an under-recognized and under-researched feature in persons with many different rare diseases. A better overview of the characteristics of existing research on experienced fatigue in chi...

    Authors: Trine Bathen, Heidi Johansen, Hilde Strømme and Gry Velvin
    Citation: Orphanet Journal of Rare Diseases 2022 17:14
  12. The development of new therapies may rely on the conduct of human experimentation as well as later clinical trials of therapeutic interventions. Ethical considerations seek to protect the patient from risk but...

    Authors: Gilbert Thomas-Black, Andrada Dumitrascu, Hector Garcia-Moreno, Julie Vallortigara, Julie Greenfield, Barry Hunt, Susan Walther, Mackenzie Wells, David R. Lynch, Hugh Montgomery and Paola Giunti
    Citation: Orphanet Journal of Rare Diseases 2022 17:1
  13. This letter discusses an initiative that considered the rights of a child living with a rare disease in the context of the United Nations Convention on the Rights of the Child (UNCRC). The aim was to inform la...

    Authors: Lisa Matthews, Vaughan Chin, Marisa Taliangis, Amanda Samanek and Gareth Baynam
    Citation: Orphanet Journal of Rare Diseases 2021 16:523
  14. Cornelia de Lange (CdLS), Fragile X (FXS) and Rubinstein–Taybi syndromes (RTS) evidence unique profiles of autistic characteristics. To delineate these profiles further, the development of early social cogniti...

    Authors: Katherine Ellis, Jo Moss, Chrysi Stefanidou, Chris Oliver and Ian Apperly
    Citation: Orphanet Journal of Rare Diseases 2021 16:488
  15. Limited knowledge and unclear underlying biology of many rare diseases pose significant challenges to patients, clinicians, and scientists. To address these challenges, there is an urgent need to inspire and e...

    Authors: Qian Zhu, Ðắc-Trung Nguyễn, Timothy Sheils, Gioconda Alyea, Eric Sid, Yanji Xu, James Dickens, Ewy A. Mathé and Anne Pariser
    Citation: Orphanet Journal of Rare Diseases 2021 16:483
  16. Individuals with Williams syndrome (WS) have an elevated risk for anxiety disorders throughout the life span, making it a research priority to identify the individual factors associated with anxiety. Most of t...

    Authors: Charlotte Willfors, Deborah M. Riby, Marcus van der Poll, Katja Ekholm, Hanna Avdic Björlin, Johan Lundin Kleberg and Ann Nordgren
    Citation: Orphanet Journal of Rare Diseases 2021 16:472
  17. Homozygous mutations in the transcription factor RFX6 are the cause of the Mitchell–Riley syndrome (MRS) associating neonatal diabetes, congenital digestive system, such as biliary atresia, pancreatic hypoplasia,...

    Authors: Valeria Calcaterra, Luigi Chiricosta, Emanuela Mazzon, Agnese Gugnandolo, Daniele Alberti, Luciano Maestri, Milena Meroni, Elettra Vestri, Elvira Verduci, Dario Dilillo, Gianvincenzo Zuccotti and Gloria Pelizzo
    Citation: Orphanet Journal of Rare Diseases 2021 16:455
  18. Evidence on determinants of prices for orphan medicines is scarce and not available for Italy. The aim of this paper is to provide an evidence on variables affecting the annual treatment cost of orphan drugs i...

    Authors: Claudio Jommi, Elisabetta Listorti, Federico Villa, Simone Ghislandi, Armando Genazzani, Agnese Cangini and Francesco Trotta
    Citation: Orphanet Journal of Rare Diseases 2021 16:439
  19. The diagnosis of the rare genetic diseases has great importance in treating multisystemic conditions, preventing potential complications, and estimating disease risk for family members. The duration of obtaini...

    Authors: Ayse B. Kolemen, Enes Akyuz, Ali Toprak, Erdem Deveci and Gozde Yesil
    Citation: Orphanet Journal of Rare Diseases 2021 16:402
  20. During their studies, future physicians are often taught that while evaluating a patient they should first consider a common diagnosis and not a rare one. Consequently, although most physicians will face the d...

    Authors: Dariusz Walkowiak and Jan Domaradzki
    Citation: Orphanet Journal of Rare Diseases 2021 16:400
  21. Transplantation is a saving therapeutic that has heavy consequences. The quality of life (QoL) of transplanted children and their parents has been little studied and should help physicians better manage these ...

    Authors: Pauline Duvant, Magali Fillat, Florentine Garaix, Bertrand Roquelaure, Caroline Ovaert, Virginie Fouilloux, Michel Tsimaratos, Pascal Auquier, Alexandre Fabre and Karine Baumstarck
    Citation: Orphanet Journal of Rare Diseases 2021 16:364
  22. During the initial 26-week SPARK (Safety Paediatric efficAcy phaRmacokinetic with Kuvan®) study, addition of sapropterin dihydrochloride (Kuvan®; a synthetic formulation of the natural cofactor for phenylalani...

    Authors: Ania C. Muntau, Alberto Burlina, François Eyskens, Peter Freisinger, Vincenzo Leuzzi, Hatice Serap Sivri, Gwendolyn Gramer, Renata Pazdírková, Maureen Cleary, Amelia S. Lotz-Havla, Paul Lane, Ignacio Alvarez and Frank Rutsch
    Citation: Orphanet Journal of Rare Diseases 2021 16:341
  23. Children with Robin sequence (RS) are at risk of growth failure, mainly due to their increased work of breathing and feeding difficulties. Various conservative and surgical treatment approaches exist, but thei...

    Authors: Cornelia Wiechers, Regina Iffländer, Rieke Gerdes, Melissa Ciuffolotti, Jörg Arand, Christina Weise, Katharina Peters, Bärbel Grandke, Siegmar Reinert, Bernd Koos and Christian F. Poets
    Citation: Orphanet Journal of Rare Diseases 2021 16:338
  24. 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
  25. 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
  26. 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
  27. 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
  28. 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
  29. 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
  30. 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
  31. 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
  32. 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
  33. 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
  34. 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
  35. 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
  36. 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
  37. 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
  38. 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
  39. 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
  40. 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
  41. 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

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

  42. 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
  43. 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
  44. 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

  45. 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
  46. 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
  47. 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