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  1. X-linked hypophosphatemia (XLH) is characterized by increased serum concentrations of fibroblast growth factor 23 (FGF23), hypophosphatemia and insufficient endogenous synthesis of calcitriol. Beside rickets, ...

    Authors: Diana-Alexandra Ertl, Justin Le Lorier, Andreas Gleiss, Séverine Trabado, Candace Bensignor, Christelle Audrain, Volha Zhukouskaya, Régis Coutant, Jugurtha Berkenou, Anya Rothenbuhler, Gabriele Haeusler and Agnès Linglart
    Citation: Orphanet Journal of Rare Diseases 2022 17:412
  2. Extremely high prices facilitate drug development for ultra-rare diseases (ultra-orphan drugs). However, various problems arise in terms of healthcare financing and fairness, and the status of ultra-orphan dru...

    Authors: Akihiko Kawakami and Ken Masamune
    Citation: Orphanet Journal of Rare Diseases 2022 17:408
  3. Caring for a child with a chronic disease may be demanding and stressful. When a child has a rare condition, the impact of care on parents is amplified due to the rarity of the diagnosis. In order to address t...

    Authors: Charlotte von der Lippe, Ingrid Neteland and Kristin Billaud Feragen
    Citation: Orphanet Journal of Rare Diseases 2022 17:375
  4. Recessive loss-of-function variations in HINT1 cause a peculiar subtype of Charcot-Marie-Tooth disease: neuromyotonia and axonal neuropathy (NMAN; OMIM[#137200]). With 25 causal variants identified worldwide, HIN...

    Authors: Matilde Malcorps, Silvia Amor-Barris, Birute Burnyte, Ramune Vilimiene, Camila Armirola-Ricaurte, Kristina Grigalioniene, Alexandra Ekshteyn, Ausra Morkuniene, Arunas Vaitkevicius, Els De Vriendt, Jonathan Baets, Steven S. Scherer, Laima Ambrozaityte, Algirdas Utkus, Albena Jordanova and Kristien Peeters
    Citation: Orphanet Journal of Rare Diseases 2022 17:374
  5. Rare diseases are life-threatening, debilitating, or serious chronic conditions that affect < 50/100,000 people. Canadians can only access approximately 60% of drugs for rare diseases (DRDs), which is partiall...

    Authors: Richard Lech, Gideon Chow, Kamalpreet Mann, Patrick Mott, Christine Malmberg and Lindy Forte
    Citation: Orphanet Journal of Rare Diseases 2022 17:371
  6. Rare diseases are a new global health priority, requiring evidence-based estimates of the global prevalence of diseases to inform public policymakers and provide a serious challenge to the healthcare system th...

    Authors: Reza Jahanshahi, Amirreza Nasirzadeh, Mahan Farzan, Jan Domaradzki, Leila Jouybari, Akram Sanagoo, Mahour Farzan, Komeil Aghazadeh-Habashi, Ahmadreza Fallah Faraghe, Sadegh Bagheri, Marziyeh Samiee, Arina Ansari, Kimia Eskandari, Negar Namakkoobi, Fatemeh Soltanimoghadam, Hadi Mashali…
    Citation: Orphanet Journal of Rare Diseases 2022 17:366
  7. Due to their low prevalence (< 5 in 10,000), rare diseases are an important area of research, with the active participation of those affected being a key factor. In the Citizen Science project “SelEe” (Researc...

    Authors: Michaela Neff, Holger Storf, Jessica Vasseur, Jörg Scheidt, Thomas Zerr, Andreas Khouri and Jannik Schaaf
    Citation: Orphanet Journal of Rare Diseases 2022 17:357
  8. Rare diseases are associated with difficulties in addressing unmet medical needs, lack of access to treatment, high prices, evidentiary mismatch, equity, etc. While challenges facing the development of drugs f...

    Authors: Conor M. W. Douglas, Fernando Aith, Wouter Boon, Marina de Neiva Borba, Liliana Doganova, Shir Grunebaum, Rob Hagendijk, Larry Lynd, Alexandre Mallard, Faisal Ali Mohamed, Ellen Moors, Claudio Cordovil Oliveira, Florence Paterson, Vanessa Scanga, Julino Soares, Vololona Raberharisoa…
    Citation: Orphanet Journal of Rare Diseases 2022 17:344
  9. A rare disease is generally defined as a condition which affects about 1 among 2000 people and currently, there are approximately 5000–8000 rare diseases (RDs) affecting over 400 million people world-wide. Alt...

    Authors: Frida Kaywanga, Mohamed Zahir Alimohamed, Aneth Bella David, Daniel Maeda, Sharifa Mbarak, Togolani Mavura, Siana Nkya and Deus S. Ishengoma
    Citation: Orphanet Journal of Rare Diseases 2022 17:343
  10. Neurofibromatosis 1 (NF1) is a common autosomal dominant syndrome with complete penetrance and highly variable expressivity. The cutaneous neurofibroma (Cnf) and plexiform neurofibroma (Pnf), café-au-lait spot...

    Authors: Diogo Lisbôa Basto, Gustavo de Souza Vieira, Raquel M. Andrade-Losso, Paula Nascimento Almeida, Vincent M. Riccardi, Rafaela Elvira Rozza-de-Menezes and Karin Soares Cunha
    Citation: Orphanet Journal of Rare Diseases 2022 17:341
  11. Prader–Willi syndrome (PWS) is a rare neurodevelopmental disorder based on a loss of paternally expressed genes in chromosome segment 15q11-13. Behavioral traits such as temper outbursts, stereotypic, and ritu...

    Authors: Maximilian Deest, Jelte Wieting, Maximilian Michael Jakob, Stephanie Deest-Gaubatz, Adrian Groh, Johanna Seifert, Sermin Toto, Stefan Bleich, Helge Frieling and Christian K. Eberlein
    Citation: Orphanet Journal of Rare Diseases 2022 17:324
  12. Neurodegeneration with brain iron accumulation (NBIA) is a group of rare neurogenetic disorders frequently associated with iron accumulation in the basal nuclei of the brain characterized by progressive spasti...

    Authors: Mónica Álvarez-Córdoba, Diana Reche-López, Paula Cilleros-Holgado, Marta Talaverón-Rey, Irene Villalón-García, Suleva Povea-Cabello, Juan M. Suárez-Rivero, Alejandra Suárez-Carrillo, Manuel Munuera-Cabeza, Rocío Piñero-Pérez and José A. Sánchez-Alcázar
    Citation: Orphanet Journal of Rare Diseases 2022 17:311
  13. The development of orphan drugs (ODs) is challenging from both development and business perspectives because of their small patient populations. To overcome such business challenges, lifecycle management (LCM)...

    Authors: Kiyoshi Seki, Hiroshi Suzuki, Seiji Abe and Chikako Saotome
    Citation: Orphanet Journal of Rare Diseases 2022 17:299
  14. Complex vascular malformations (VMs) are rare disorders that can cause pain, coagulopathy, disfigurement, asymmetric growth, and disability. Patients with complex VMs experience misdiagnosis, delayed diagnosis...

    Authors: Bryan A. Sisk, Anna Kerr and Katherine A. King
    Citation: Orphanet Journal of Rare Diseases 2022 17:271
  15. People living with rare disease often have protracted journeys towards diagnosis. In the last decade, programs have arisen around the world that are dedicated to ending this ‘diagnostic odyssey’, including the...

    Authors: Alicia Bauskis, Cecily Strange, Caron Molster and Colleen Fisher
    Citation: Orphanet Journal of Rare Diseases 2022 17:233
  16. The rich and diverse genomics of African populations is significantly underrepresented in reference and in disease-associated databases. This renders interpreting the Next Generation Sequencing (NGS) data and ...

    Authors: Aimé Lumaka, Nadia Carstens, Koenraad Devriendt, Amanda Krause, Benard Kulohoma, Judit Kumuthini, Gerrye Mubungu, John Mukisa, Melissa Nel, Timothy O. Olanrewaju, Zané Lombard and Guida Landouré
    Citation: Orphanet Journal of Rare Diseases 2022 17:230
  17. Patients’ involvement (PI) in research is recognized as a valuable strategy for increasing the quality, developing more targeted research and to speed up more innovative research dissemination. Nevertheless, p...

    Authors: Gry Velvin, Thale Hartman and Trine Bathen
    Citation: Orphanet Journal of Rare Diseases 2022 17:212
  18. 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
  19. 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
  20. 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
  21. 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
  22. 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
  23. 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
  24. 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
  25. 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
  26. Since it first started operating in 2017, the European Reference Network for Rare Neurological Diseases (ERN-RND) implemented a multi-channel communication strategy to effectively reach its target audience: he...

    Authors: Alicia Brunelle Praschberger, Annemarie E. M. Post, Sanja Hermanns and Holm Graessner
    Citation: Orphanet Journal of Rare Diseases 2022 17:89
  27. 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
  28. 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
  29. 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
  30. 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
  31. 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
  32. 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
  33. 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
  34. 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
  35. 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
  36. 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
  37. 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
  38. 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
  39. 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
  40. 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
  41. 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
  42. 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
  43. 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
  44. 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
  45. 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