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  1. The aims of this paper is to search and explore publications in the field of pharmacovigilance for rare diseases and to visualize general information, research hotspots, frontiers and future trends in the fiel...

    Authors: Mengdan Xu, Guozhi Li, Jiazhao Li, Huiyu Xiong and Suzhen He
    Citation: Orphanet Journal of Rare Diseases 2023 18:303
  2. Imerslund-Gräsbeck syndrome (IGS) is a rare autosomal recessive disorder characterized by vitamin B12 malabsorption. Most patients present with non-specific symptoms attributed to vitamin B12 deficiency, and p...

    Authors: Sandra D.K. Kingma, Julie Neven, An Bael, Marije E.C. Meuwissen and Machiel van den Akker
    Citation: Orphanet Journal of Rare Diseases 2023 18:291
  3. Notwithstanding two decades of policy and legislation in Europe, aimed to foster research and development in rare conditions, only 5–6% of rare diseases have dedicated treatments. Given with the huge number of...

    Authors: Victoria Hedley, Matt Bolz-Johnson, Ines Hernando, Rosalind Kenward, Rima Nabbout, Clara Romero, Franz Schaefer and Sheela Upadhyaya
    Citation: Orphanet Journal of Rare Diseases 2023 18:272
  4. Rare diseases (RDs) are life-threatening or chronically debilitating and offer a high level of complexity. The aim of this study is to assess medical students’ knowledge and awareness of RDs as well as their p...

    Authors: Eleonora Hristova-Atanasova, Georgi Iskrov, Ivan Atanasov, Atilla Genc and Rumen Stefanov
    Citation: Orphanet Journal of Rare Diseases 2023 18:213
  5. Rare diseases affect more than 30 million Americans. The passage of the Orphan Drug Act (ODA) in the United States in 1983 represented a launching point for a rare disease drug development revolution for these...

    Authors: Lewis J. Fermaglich and Kathleen L. Miller
    Citation: Orphanet Journal of Rare Diseases 2023 18:163
  6. The Mechanism of Coordinated Access to Orphan Medicinal Products (MoCA) was established in 2013 with the intention of developing a coordinated mechanism between volunteering EU stakeholders and developers of O...

    Authors: Maria Cavaller-Bellaubi, Wills Hughes-Wilson, Šárka Kubinová, Marc Van de Casteele, Evert Jan Van Lente, Emanuele Degortes, Johan Pontén, Hans-Georg Eichler, Yann Le Cam, Simone Boselli and Anna Bucsics
    Citation: Orphanet Journal of Rare Diseases 2023 18:144
  7. Rare diseases (RDs) may impose a considerable financial burden on patients and their families. Public acceptance is essential to ensure sustainable public systems supporting RDs, especially in countries with u...

    Authors: Haruka Nakada, Saori Watanabe, Kyoko Takashima, Shohei Suzuki, Yuki Kawamura, Yutori Takai, Kenji Matsui and Keiichiro Yamamoto
    Citation: Orphanet Journal of Rare Diseases 2023 18:143
  8. Rare diseases present a challenge to guideline implementation due to a low prevalence in the general population and the unfamiliarity of healthcare professionals. Existing literature in more common diseases re...

    Authors: Matthew Gittus, Jiehan Chong, Anthea Sutton, Albert C. M. Ong and James Fotheringham
    Citation: Orphanet Journal of Rare Diseases 2023 18:140
  9. Rare diseases are a particular field of public health that is characterized by scattered, often insufficient knowledge and infrastructure. The scarcity of specialized knowledge often forces clinicians and pati...

    Authors: Victoria Antoniadou and Adamos Hadjipanayis
    Citation: Orphanet Journal of Rare Diseases 2023 18:97
  10. The transition process from paediatric/adolescent to adult medical care settings is of utmost importance for the future health of adolescents with chronic diseases and poses even more difficulties in the conte...

    Authors: Corinna Grasemann, Jakob Höppner, Peter Burgard, Michael M. Schündeln, Nora Matar, Gabriele Müller, Heiko Krude, Reinhard Berner, Min Ae Lee-Kirsch, Fabian Hauck, Kerstin Wainwright, Sylvana Baumgarten, Janet Atinga, Jens J. Bauer, Eva Manka, Julia Körholz…
    Citation: Orphanet Journal of Rare Diseases 2023 18:93
  11. Centers for rare diseases serve as contact points for patients with complex, often undiagnosed complaints and persistent somatic symptoms of heterogeneous origin. Little is known about psychological distress o...

    Authors: Meike Mund, Natalie Uhlenbusch, Franziska Rillig, Christina Weiler-Normann, Theresia Herget, Christian Kubisch, Bernd Löwe and Christoph Schramm
    Citation: Orphanet Journal of Rare Diseases 2023 18:82
  12. The Undiagnosed Diseases Network (UDN), a clinical research study funded by the National Institutes of Health, aims to provide answers for patients with undiagnosed conditions and generate knowledge about unde...

    Authors: Lindsay E. Rosenfeld, Kimberly LeBlanc, Anna Nagy, Braeden K. Ego and Alexa T. McCray
    Citation: Orphanet Journal of Rare Diseases 2023 18:73
  13. In many countries worldwide orphan drug regulations are installed but only the United States of America and Japan have an orphan device regulation. For many years surgeons have used off-label or self-assembled...

    Authors: M. Dooms
    Citation: Orphanet Journal of Rare Diseases 2023 18:71
  14. In recent years, significant advances have been made in the field of rare diseases (RDs). However, there is a large number of RDs without specific treatment and half of these treatments have public funding in ...

    Authors: N. Zozaya, J. Villaseca, F. Abdalla, A. Ancochea, I. Málaga, M. Trapero-Bertran, N. Martín-Sobrino, O. Delgado, P. Ferré and A. Hidalgo-Vega
    Citation: Orphanet Journal of Rare Diseases 2023 18:41
  15. Pre-clinical research and development relies heavily upon translationally valid models of disease. A major difficulty in understanding the biology of, and developing treatments for, rare disease is the lack of...

    Authors: Eric J. Vallender, Charlotte E. Hotchkiss, Anne D. Lewis, Jeffrey Rogers, Joshua A. Stern, Samuel M. Peterson, Betsy Ferguson and Ken Sayers
    Citation: Orphanet Journal of Rare Diseases 2023 18:20
  16. Cystic lymphatic malformations (LMs) are rare chronic conditions which management differs according to the type (macrocystic LMs, microcystic LMs or both). Studies are lacking due to rarity of the pathology. W...

    Authors: Nicolas Leboulanger, Annouk Bisdorff, Olivia Boccara, Anne Dompmartin, Laurent Guibaud, Christine Labreze, Jacques Lagier, Bénédicte Lebrun-Vignes, Denis Herbreteau, Aline Joly, Julie Malloizel-Delaunay, Arnaud Martel, Stéphane Munck, Frédérique Saint-Aubin and Annabel Maruani
    Citation: Orphanet Journal of Rare Diseases 2023 18:10
  17. The present study aims to assess clinical and regulatory variables that would influence pricing and reimbursement (P&R) decisions for Orphan Drugs (ODs) in Spain. ODs approved by the European Commission (EC) b...

    Authors: José Luis Poveda, Claudia Gómez, Alicia Gil and Xavier Badia
    Citation: Orphanet Journal of Rare Diseases 2023 18:4
  18. 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
  19. 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
  20. 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
  21. 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
  22. 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
  23. 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
  24. 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
  25. 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
  26. 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
  27. 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
  28. 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
  29. 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
  30. 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
  31. 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
  32. 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
  33. 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
  34. 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
  35. 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
  36. 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
  37. 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
  38. 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
  39. 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
  40. 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
  41. 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