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  1. Genetic diagnosis is often understood as a single event within the care pathway of rare disease patients. Legal, policy and ethical scholarship focusing on rare diseases and genetic information discusses quest...

    Authors: Antonia Modelhart, Dominique Sturz, Lydia Kremslehner and Barbara Prainsack
    Citation: Orphanet Journal of Rare Diseases 2024 19:68
  2. Ataxia telangiectasia (A-T) is an autosomal recessive neurodegenerative disease with widespread systemic manifestations and marked variability in clinical phenotypes. In this study, we sought to determine whet...

    Authors: Nigel S. Michki, Benjamin D. Singer, Javier V. Perez, Aaron J. Thomas, Valerie Natale, Kathryn A. Helmin, Jennifer Wright, Leon Cheng, Lisa R. Young, Howard M. Lederman and Sharon A. McGrath-Morrow
    Citation: Orphanet Journal of Rare Diseases 2024 19:67
  3. The EURO-NMD Registry collects data from all neuromuscular patients seen at EURO-NMD's expert centres. In-kind contributions from three patient organisations have ensured that the registry is patient-centred, ...

    Authors: Antonio Atalaia, Dagmar Wandrei, Nawel Lalout, Rachel Thompson, Adrian Tassoni, Peter A. C. ’t Hoen, Dimitrios Athanasiou, Suzie-Ann Baker, Paraskevi Sakellariou, Georgios Paliouras, Carla D’Angelo, Rita Horvath, Michelangelo Mancuso, Nadine van der Beek, Cornelia Kornblum, Janbernd Kirschner…
    Citation: Orphanet Journal of Rare Diseases 2024 19:66
  4. Inherited Metabolic Diseases (IMD) encompass a diverse group of rare genetic conditions that, despite their individual rarity, collectively affect a substantial proportion, estimated at as much as 1 in 784 liv...

    Authors: Yannick Moutapam-Ngamby—Adriaansen, François Maillot, François Labarthe and Bertrand Lioger
    Citation: Orphanet Journal of Rare Diseases 2024 19:65
  5. People with Xeroderma Pigmentosum (XP) have a heightened sensitivity to ultraviolet radiation (UVR) and are advised to wear photoprotective clothing including a visor covering the face and neck. Photoprotectiv...

    Authors: Tanya Graham, Sangeeta Sooriah, Yan-Shing Chang, Shaikh Hashimdeen, Turgut Meydan and Patricia Grocott
    Citation: Orphanet Journal of Rare Diseases 2024 19:64
  6. Multiple osteochondromas is genetic disorder characterized by the formation of multiple benign cartilage-capped bone tumors, named osteochondromas, during skeletal development. The most feared complication is ...

    Authors: Maria Gnoli, Marco Gambarotti, Alberto Righi, Eric Lodewijk Staals, Andrea Evangelista, Morena Tremosini, Evelise Brizola, Marina Mordenti, Manila Boarini, Manuela Locatelli, Elena Pedrini and Luca Sangiorgi
    Citation: Orphanet Journal of Rare Diseases 2024 19:63
  7. In 2017, the German Academy for Rare Neurological Diseases (Deutsche Akademie für Seltene Neurologische Erkrankungen; DASNE) was founded to pave the way for an optimized personalized management of patients wit...

    Authors: Holm Graessner, Carola Reinhard, Tobias Bäumer, Annette Baumgärtner, Knut Brockmann, Norbert Brüggemann, Eva Bültmann, Jeanette Erdmann, Kirstin Heise, Günter Höglinger, Irina Hüning, Frank J. Kaiser, Christine Klein, Thomas Klopstock, Ingeborg Krägeloh-Mann, Markus Kraemer…
    Citation: Orphanet Journal of Rare Diseases 2024 19:62
  8. Osteogenesis Imperfecta (OI) is characterised by bone fragility. Among several features, easy bruising and multiple case reports on haemorrhagic events have been reported. This paper describes the diverse mani...

    Authors: Koert Gooijer, Gabriëla Heidsieck, Arjan Harsevoort, Daniëlle Bout, Guus Janus and Anton Franken
    Citation: Orphanet Journal of Rare Diseases 2024 19:61
  9. The European Reference Network for rare Inherited Congenital Anomalies, ERNICA, guidelines for gastroschisis cover perinatal period to help teams to improve care.

    Authors: Carmen Mesas Burgos, Willemijn Irvine, Alexandre Vivanti, Peter Conner, Egle Machtejeviene, Nina Peters, Joan Sabria, Ana Sanchez Torres, Costanza Tognon, Alberto Sgró, Antti Kouvisalo, Hester Langeveld-Benders, Rony Sfeir, Marc Miserez, Nils Qvist, Ausra Lokosiute-Urboniene…
    Citation: Orphanet Journal of Rare Diseases 2024 19:60
  10. Gene therapy has the potential to offer people with haemophilia (PwH) a life free from bleeding and the burden posed by current treatment regimens. To date, gene therapy has only been available in clinical tri...

    Authors: Simon Fletcher, Kathryn Jenner, Michael Holland and Kate Khair
    Citation: Orphanet Journal of Rare Diseases 2024 19:59
  11. Amyloidosis represents a rare yet heterogeneous multi-system disorder associated with a grave prognosis and an enormous psycho-emotional strain on patients, relatives, and caregivers. We here present the overa...

    Authors: Sandra Michaela Ihne-Schubert, Teresa Radovic, Saskia Fries, Stefan Frantz, Hermann Einsele, Stefan Störk and Silke Neuderth
    Citation: Orphanet Journal of Rare Diseases 2024 19:58
  12. Progressive familial intrahepatic cholestasis type 2 (PFIC2) is an ultra-rare disease caused by mutations in the ABCB11 gene. This study aimed to understand the course of PFIC2 during the native liver period.

    Authors: Hiroki Kondou, Satoshi Nakano, Tadahaya Mizuno, Kazuhiko Bessho, Yasuhiro Hasegawa, Atsuko Nakazawa, Ken Tanikawa, Yoshihiro Azuma, Tatsuya Okamoto, Ayano Inui, Kazuo Imagawa, Mureo Kasahara, Yoh Zen, Mitsuyoshi Suzuki and Hisamitsu Hayashi
    Citation: Orphanet Journal of Rare Diseases 2024 19:57
  13. Pathogenic (P) copy number variants (CNVs) may be associated with second-trimester ultrasound soft markers (USMs), and noninvasive prenatal screening (NIPS) can enable interrogate the entire fetal genome to sc...

    Authors: Yunyun Liu, Sha Liu, Jianlong Liu, Ting Bai, Xiaosha Jing, Cechuan Deng, Tianyu Xia, Jing Cheng, Lingling Xing, Xiang Wei, Yuan Luo, Quanfang Zhou, Dan Xie, Yueyue Xiong, Ling Liu, Qian Zhu…
    Citation: Orphanet Journal of Rare Diseases 2024 19:56
  14. Rare diseases affect approximately 400 million people worldwide. Many of them suffer from delayed diagnosis. Among them, NPHP1-related renal ciliopathies need to be diagnosed as early as possible as potential tre...

    Authors: Carole Faviez, Marc Vincent, Nicolas Garcelon, Olivia Boyer, Bertrand Knebelmann, Laurence Heidet, Sophie Saunier, Xiaoyi Chen and Anita Burgun
    Citation: Orphanet Journal of Rare Diseases 2024 19:55
  15. Patients with relapsing polychondritis (RP) sometimes experience upper airway collapse or lower airway stenosis, and bronchoscopy may provide a valuable typical image to confirm the diagnosis. This study aimed...

    Authors: Shao-Ting Wang, Jinglan Wang, Xiaoxing Gao, Keqi Chen, Kai-Feng Xu and Xinlun Tian
    Citation: Orphanet Journal of Rare Diseases 2024 19:54
  16. Cerebrotendinous Xanthomatosis (CTX) is a rare autosomal recessive lipid storage disorder caused by loss of function variants in the CYP27A1 gene which encodes sterol 27-hydroxylase, on chromosome 2q35. Although ...

    Authors: Muhammed Köroğlu, Mustafa Karakaplan, Enes Gündüz, Betül Kesriklioğlu, Emre Ergen, Okan Aslantürk and Zeynep Maraş Özdemir
    Citation: Orphanet Journal of Rare Diseases 2024 19:53
  17. We aimed to develop a validated patient-reported Gastrointestinal Health Scale (GHS) specific to MECP2 Duplication Syndrome (MDS) to be used in clinical trials.

    Authors: Davut Pehlivan, Sukru Aras, Daniel G. Glaze, Muharrem Ak, Bernhard Suter and Kathleen J. Motil
    Citation: Orphanet Journal of Rare Diseases 2024 19:52
  18. Pitt–Hopkins syndrome (PTHS) is a neurodevelopmental disorder that remains underdiagnosed and its clinical presentations and mutation profiles in a diverse population are yet to be evaluated. This retrospectiv...

    Authors: Tingting Zhao, Shengnan Wu, Yiping Shen, Jing Leng, Georgi Z. Genchev, Hui Lu and Jincai Feng
    Citation: Orphanet Journal of Rare Diseases 2024 19:51
  19. Reducing delayed diagnosis is a significant healthcare priority for individuals with rare diseases. Fibrous Dysplasia/ McCune Albright Syndrome (FD/MAS) is a rare bone disease caused by somatic activation muta...

    Authors: Kaiyang Song, Roshi Shrestha, Heather Delaney, Rohit Vijjhalwar, Alison Turner, Maria Sanchez and Muhammad Kassim Javaid
    Citation: Orphanet Journal of Rare Diseases 2024 19:50
  20. Fahr’s disease and syndrome are rare disorders leading to calcification of the small arteries in the basal ganglia of the brain, resulting in a wide range of symptoms comprising cognitive decline, movement dis...

    Authors: Birgitta MG Snijders, Gini Mathijssen, Mike JL Peters, Marielle H Emmelot-Vonk, Pim A de Jong, Susan Bakker, Heleen A Crommelin, Ynte M Ruigrok, Eva H Brilstra, Vera PM Schepers, Wilko Spiering, Evelien van Valen and Huiberdina L Koek
    Citation: Orphanet Journal of Rare Diseases 2024 19:49
  21. Prader-Willi syndrome (PWS) is a complex genetic neurodevelopmental condition characterised by a range of debilitating and lifelong symptoms. The many physical and behavioural challenges that arise with adults...

    Authors: Brian M. Hughes, Anthony Holland, Norbert Hödebeck-Stuntebeck, Lynn Garrick, Anthony P. Goldstone, Mark Lister, Craig Moore and Marguerite Hughes
    Citation: Orphanet Journal of Rare Diseases 2024 19:48
  22. Health technology assessment (HTA) decisions for pharmaceuticals are complex and evolving. New rare disease treatments are often approved more quickly through accelerated approval schemes, creating more uncert...

    Authors: Victoria W. Dayer, Michael F. Drummond, Omar Dabbous, Mondher Toumi, Peter Neumann, Sean Tunis, Nelson Teich, Shadi Saleh, Ulf Persson, Johann-Matthias Graf von der Schulenburg, Daniel C. Malone, Tay Salimullah and Sean D. Sullivan
    Citation: Orphanet Journal of Rare Diseases 2024 19:47
  23. For decades, early allogeneic stem cell transplantation (HSCT) has been used to slow neurological decline in metachromatic leukodystrophy (MLD). There is lack of consensus regarding who may benefit, and guidel...

    Authors: Daphne H. Schoenmakers, Fanny Mochel, Laura A. Adang, Jaap-Jan Boelens, Valeria Calbi, Erik A. Eklund, Sabine W. Grønborg, Francesca Fumagalli, Samuel Groeschel, Caroline Lindemans, Caroline Sevin, Ludger Schöls, Dipak Ram, Ayelet Zerem, Holm Graessner and Nicole I. Wolf
    Citation: Orphanet Journal of Rare Diseases 2024 19:46
  24. Protein phosphatase 2 regulatory subunit B’ Delta (PPP2R5D)-related neurodevelopmental disorder is a rare genetic condition caused by pathogenic variants in the PPP2R5D gene. Clinical signs include hypotonia, gro...

    Authors: Cara H. Kanner, David Uher, Kyle Zreibe, Gabriella Beard, Madison Patterson, Matthew Harris, Jerome Doerger, Sean Calamia, Wendy K. Chung and Jacqueline Montes
    Citation: Orphanet Journal of Rare Diseases 2024 19:45
  25. Proteus syndrome is an ultra-rare mosaic overgrowth disorder. Individuals with Proteus syndrome can develop emphysematous and cystic changes of the lung that may lead to progressive respiratory symptoms and re...

    Authors: Christopher A. Ours, Anna Buser, Mia B. Hodges, Marcus Y. Chen, Julie C. Sapp, Bernadette R. Gochuico and Leslie G. Biesecker
    Citation: Orphanet Journal of Rare Diseases 2024 19:44
  26. To describe the implementation of a registry system for patients with thyroid eye disease (TED) in Iran to obtain more information about its nature, prevalence, and annual incidence, as well as extend insight ...

    Authors: Shadi Akbarian, Abbas Sheikhtaheri, Farid Khorrami, Hossein Ghahvechian, Nasser Karimi and Mohsen Bahmani Kashkouli
    Citation: Orphanet Journal of Rare Diseases 2024 19:42
  27. Neurodevelopmental disorders (NDDs) and/or associated multiple congenital abnormalities (MCAs) represent a genetically heterogeneous group of conditions with an adverse prognosis for the quality of intellectua...

    Authors: Marketa Wayhelova, Vladimira Vallova, Petr Broz, Aneta Mikulasova, Jan Smetana, Hana Dynkova Filkova, Dominika Machackova, Kristina Handzusova, Renata Gaillyova and Petr Kuglik
    Citation: Orphanet Journal of Rare Diseases 2024 19:41
  28. Amyotrophic lateral sclerosis (ALS) is an irreversible degenerative disease. Placebo-controlled randomized trials are currently the main trial design to assess the clinical efficacy of drugs for ALS treatment....

    Authors: Ruifen Cai, Juan Yang, Lijuan Wu, Yixiao Liu, Xinrui Wang, Qingshan Zheng and Lujin Li
    Citation: Orphanet Journal of Rare Diseases 2024 19:40
  29. Congenital disorders of glycosylation (CDG) are genetic diseases caused by impaired synthesis of glycan moieties linked to glycoconjugates. Phosphomannomutase 2 deficiency (PMM2-CDG), the most frequent CDG, is...

    Authors: Lara Cirnigliaro, Fabio Pettinato, Maria Stella Valle, Antonino Casabona, Agata Fiumara, Michele Vecchio, Valerio Amico, Renata Rizzo, Jaak Jaeken, Rita Barone and Matteo Cioni
    Citation: Orphanet Journal of Rare Diseases 2024 19:39
  30. Fabry disease is a rare progressive X-linked lysosomal storage disease caused by mutations in the GLA gene that encodes α-galactosidase A. Agalsidase beta is a recombinant enzyme replacement therapy authorized...

    Authors: Renzo Mignani, Claudio Americo, Filippo Aucella, Yuri Battaglia, Vittoria Cianci, Annamaria Sapuppo, Chiara Lanzillo, Fabio Pennacchiotti, Luciano Tartaglia, Giacomo Marchi and Federico Pieruzzi
    Citation: Orphanet Journal of Rare Diseases 2024 19:38
  31. Acid Sphingomyelinase Deficiency (ASMD) is an ultra-rare autosomal recessive lysosomal storage disorder characterized by intracellular lipid accumulation resulting from reduced function of acid sphingomyelinas...

    Authors: Eva M. Raebel, Samantha Wiseman, Conan Donnelly, Toni Mathieson, Jackson Pountney, Joslyn Crowe and Justin Hopkin
    Citation: Orphanet Journal of Rare Diseases 2024 19:36
  32. Cronkhite-Canada syndrome (CCS) is a rare, nonhereditary disease characterized by diffuse gastrointestinal polyposis and ectodermal abnormalities. Although it has been proposed to be a chronic inflammatory con...

    Authors: Shuang Liu, Yunfei Zhi, Runfeng Zhang, Yan You, Wen You, Qiushi Xu, Jingnan Li and Ji Li
    Citation: Orphanet Journal of Rare Diseases 2024 19:35
  33. Rett syndrome (RTT) is a rare neurodevelopmental condition associated with mutations in the gene coding for the methyl-CpG-binding protein 2 (MECP2). It is primarily observed in girls and affects individuals glob...

    Authors: Komal Zade, Ciara Campbell, Snow Bach, Hazel Fernandes and Daniela Tropea
    Citation: Orphanet Journal of Rare Diseases 2024 19:34
  34. Before COVID-19, people with rare diseases (RD) experienced numerous disparities in quality of life and healthcare access and quality, yet little is known about the experiences of this underserved group during...

    Authors: Kathleen R. Bogart, Annelise Hartinger, Maggie Klaus and Elizabeth Jenkinson
    Citation: Orphanet Journal of Rare Diseases 2024 19:33
  35. Vertebral malformations (VMs) pose a significant global health problem, causing chronic pain and disability. Vertebral defects occur as isolated conditions or within the spectrum of various congenital disorder...

    Authors: Anna Szoszkiewicz, Ewelina Bukowska-Olech and Aleksander Jamsheer
    Citation: Orphanet Journal of Rare Diseases 2024 19:32
  36. The aetiology of gastroschisis is considered multifactorial. We conducted a systematic review and meta-analysis to assess whether the use of medications during pregnancy, is associated with the risk of gastros...

    Authors: Silvia Baldacci, Michele Santoro, Lorena Mezzasalma, Anna Pierini and Alessio Coi
    Citation: Orphanet Journal of Rare Diseases 2024 19:31
  37. The co-existence of meningioma and craniofacial fibrous dysplasia (CFD) is rare. Due to the similar radiological characteristics, it is challenging to differentiate such co-existence from solitary hyperostotic...

    Authors: Xiaowen Song and Zhi Li
    Citation: Orphanet Journal of Rare Diseases 2024 19:30
  38. Achondroplasia is the most common of the skeletal dysplasias that cause fatal and disabling growth and developmental disorders in children, and is caused by a mutation in the fibroblast growth factor receptor,...

    Authors: XinZhong Zhang, Shan Jiang, Rui Zhang, Siyi Guo, Qiqi Sheng, Kaili Wang, Yuanyuan Shan, Lin Liao and Jianjun Dong
    Citation: Orphanet Journal of Rare Diseases 2024 19:29
  39. In European Union countries, any disease affecting less than 5 people in 10,000 is considered rare. As expertise is scarce and rare diseases (RD) are complex, RD patients can remain undiagnosed for many years....

    Authors: Céline Angin, Monica Mazzucato, Stefanie Weber, Kurt Kirch, Waed Abdel Khalek, Houda Ali, Sylvie Maiella, Annie Olry, Anne-Sophie Jannot and Ana Rath
    Citation: Orphanet Journal of Rare Diseases 2024 19:28
  40. Approximately 50% of rare diseases have symptom onset during childhood. A high level of nursing care and an often uncertain prognosis put caregivers of the affected children at high risk for psychological dist...

    Authors: Dunja Tutus, Mandy Niemitz, Paul L. Plener, Jörg M. Fegert, Christine Lehmann, Christa Weiss, Christine Knaevelsrud, Lisa Biehl and Miriam Rassenhofer
    Citation: Orphanet Journal of Rare Diseases 2024 19:27
  41. Hereditary leiomyomatosis and renal cell cancer syndrome is a rare autosomal dominant hereditary syndrome. Previously, we published the largest cohort of FH mutation carriers in Spain and observed a highly recurr...

    Authors: Ana Beatriz Sánchez-Heras, Estela Dámaso, Adela Castillejo, Mercedes Robledo, Alexandre Teulé, Conxi Lázaro, Rosario Sánchez-Martínez, Ángel Zúñiga, Adrià López-Fernández, Judith Balmaña, Luis Robles, Teresa Ramon y Cajal, M. Isabel Castillejo, Raquel Perea Ibañez, Carmen Martínez Sevila, Andrea Sánchez-Mira…
    Citation: Orphanet Journal of Rare Diseases 2024 19:26
  42. The delay in diagnosis for rare disease (RD) patients is often longer than for patients with common diseases. Machine learning (ML) technologies have the potential to speed up and increase the precision of dia...

    Authors: Georgi Iskrov, Ralitsa Raycheva, Kostadin Kostadinov, Sandra Gillner, Carl Rudolf Blankart, Edith Sky Gross, Gulcin Gumus, Elena Mitova, Stefan Stefanov, Georgi Stefanov and Rumen Stefanov
    Citation: Orphanet Journal of Rare Diseases 2024 19:25
  43. In 2017, a new treatment by nusinersen, an antisense oligonucleotide delivered by repeated intrathecal injections, became available for patients with spinal muscular atrophy (SMA), whereas clinical trials had ...

    Authors: Emmanuelle Salort-Campana, Guilhem Solé, Armelle Magot, Céline Tard, Jean-Baptiste Noury, Anthony Behin, Elisa De La Cruz, François Boyer, Claire Lefeuvre, Marion Masingue, Louise Debergé, Armelle Finet, Mélanie Brison, Marco Spinazzi, Antoine Pegat, Sabrina Sacconi…
    Citation: Orphanet Journal of Rare Diseases 2024 19:24
  44. Research priorities are best defined through engagement with communities who will be impacted by the research and have lived experience of the topics to be studied. We aimed to establish a pediatric rare disea...

    Authors: Courtney Berrios, Macy McBeth, Andrea Bradley-Ewing, Nikolaus Schuetz, Annette Campbell, Zohreh Talebizadeh, Jeremy R. Garrett, Tamara Falicov, Francisco Martinez and Emily A. Hurley
    Citation: Orphanet Journal of Rare Diseases 2024 19:23
  45. Pain is an hallmark of sickle-cell-related acute clinical manifestations as part of acute vaso-occlusive crisis (VOC). In SCD pain has different origins such as vascular or neuropathic pain, which requires mul...

    Authors: Valeria Maria Pinto, Barbara Gianesin, Salvatore Sardo, Filippo Mazzi, Giammarco Baiardi, Sofia Menotti, Fabio Piras, Sabrina Quintino, Giacomo Robello, Francesca Mattioli, Gabriele Finco, Gian Luca Forni and Lucia De Franceschi
    Citation: Orphanet Journal of Rare Diseases 2024 19:22
  46. Combined methylmalonic acidemia and homocystinuria, cblC type is an inborn error of intracellular cobalamin metabolism and the most common one. The age of onset ranges from prenatal to adult. The disease is ch...

    Authors: Loredana Arhip, Noemi Brox-Torrecilla, Inmaculada Romero, Marta Motilla, Clara Serrano-Moreno, María Miguélez and Cristina Cuerda
    Citation: Orphanet Journal of Rare Diseases 2024 19:20
  47. Oral prednisone has been recognized as the first-line therapy for the treatment of ocular myasthenia gravis (OMG). However, its long-term use is complicated by numerous adverse effects and is ineffective for s...

    Authors: Kai-Yue Zhang, Wei-Wei Duan, Yue-Bei Luo, Yi Li, Jue Hu and Huan Yang
    Citation: Orphanet Journal of Rare Diseases 2024 19:19
  48. Vascular anomalies (VAs) are rare congenital disorders that can cause pain, disfigurement, coagulopathy, asymmetric growth, and disability. Patients with complex VAs experience multiple barriers to accessing e...

    Authors: Bryan Sisk, Sunny Lin and Anna M. Kerr
    Citation: Orphanet Journal of Rare Diseases 2024 19:18