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  1. As the first gene therapy for spinal muscular atrophy (SMA), nusinersen is supposed to be administrated via intrathecal injection regularly for a lifetime. However, for SMA patients with severe spinal deformit...

    Authors: Zhen Wang, Erwei Feng, Yang Jiao, Junduo Zhao, Xin Chen, Haozhi Zhang, Jinqian Liang, Zheng Li, Xulei Cui, Weiyun Chen and Jianxiong Shen
    Citation: Orphanet Journal of Rare Diseases 2023 18:369
    Content type: Research Published on:

  2. Compassionate use is a system that provides patients with expedited access to drugs which has not yet been approved, but currently in clinical trials. The investigational drugs have been authorized for compass...

    Authors: Jiayu Wu, Yang Yang, Jiaxin Yu, Luyao Qiao, Wei Zuo and Bo Zhang
    Citation: Orphanet Journal of Rare Diseases 2023 18:368
    Content type: Review Published on:

  3. Pseudohypoparathyroidism type 1 (PHP1) is a rare disease featuring hypocalcemia and elevated PTH level. Though disturbed calcium and phosphorus metabolism under PTH resistant have been widely studied, glucolip...

    Authors: Yi Yang, An Song, Fengying Gong, Yan Jiang, Mei Li, Weibo Xia, Xiaoping Xing, Ou Wang and Hui Pan
    Citation: Orphanet Journal of Rare Diseases 2023 18:367
    Content type: Research Published on:

  4. With the first gene therapies for haemophilia approved by the European Commission, the US Food and Drug Administration, and the Medicines and Healthcare products Regulatory Agency, it is important to consider ...

    Authors: Sara Boyce, Simon Fletcher, April Jones, Ruchika Kohli, Sarah Mangles, Min Ong, Debra Pollard, Sujan Sivasubramaniyam, David Stephensen, Nicola Stoner and Rashid Kazmi
    Citation: Orphanet Journal of Rare Diseases 2023 18:366
    Content type: Letter to the Editor Published on:

  6. Poorly coordinated care can have major impacts on patients and families affected by rare conditions, with negative physical health, psychosocial and financial consequences. This study aimed to understand how c...

    Authors: Holly Walton, Pei Li Ng, Amy Simpson, Lara Bloom, Lyn S. Chitty, Naomi J. Fulop, Amy Hunter, Jennifer Jones, Joe Kai, Larissa Kerecuk, Maria Kokocinska, Kerry Leeson-Beevers, Sharon Parkes, Angus I. G. Ramsay, Alastair Sutcliffe, Christine Taylor…
    Citation: Orphanet Journal of Rare Diseases 2023 18:364
    Content type: Research Published on:

  7. Although rare diseases (RD) are increasingly becoming a priority for healthcare activities and services around the world, developing research policy for investigating RD in public settings proves challenging d...

    Authors: Soho Yoon, Minjee Lee, Hoi-In Jung, M. Mahmud Khan, So-Yoon Kim, Hannah Kim and Sophia Wasti
    Citation: Orphanet Journal of Rare Diseases 2023 18:363
    Content type: Research Published on:

  8. Rare diseases (RD) are a heterogeneous group of diseases, sharing aspects of complexity. Prognosis is variable, even in individuals with the same disease. Real-world data on RD as a whole are scarce. The aim o...

    Authors: Monica Mazzucato, Laura Visonà Dalla Pozza, Cinzia Minichiello, Ema Toto, Andrea Vianello and Paola Facchin
    Citation: Orphanet Journal of Rare Diseases 2023 18:362
    Content type: Research Published on:

  9. The pediatric pulmonary multisystem Langerhans cell histiocytosis (PPM LCH) is associated with either low risk or high risk organ(s). The nodulo-cystic lung lesions although pathognomonic, yet are very variab...

    Authors: Mohamed Sedky, Seham Gohar, Sonia Ahmed, Iman Zaky, Asmaa Salama, Omayma Hassanein, Eslam Maher and Alaa ElHaddad
    Citation: Orphanet Journal of Rare Diseases 2023 18:361
    Content type: Research Published on:

  10. Hypoketotic hypoglycaemia with suppressed plasma fatty acids and detectable insulin suggests congenital hyperinsulinism (CHI). Severe hypoketotic hypoglycaemia mimicking hyperinsulinism but without detectable ...

    Authors: Alena Welters, Sarah M Leiter, Nadine Bachmann, Carsten Bergmann, Henrike Hoermann, Eckhard Korsch, Thomas Meissner, Felicity Payne, Rachel Williams, Khalid Hussain, Robert K. Semple and Sebastian Kummer
    Citation: Orphanet Journal of Rare Diseases 2023 18:360
    Content type: Research Published on:

  11. Wolfram syndrome (WS) is a rare autosomal recessive multisystem neurodegenerative disease characterized by non-autoimmune insulin-dependent diabetes mellitus, optic atrophy, sensorineural deafness, and diabete...

    Authors: Danyang Du, Aihemaitijiang Tuhuti, Yanrong Ma, Munila Abuduniyimu, Suli Li, Guoying Ma, Jazyra Zynat and Yanying Guo
    Citation: Orphanet Journal of Rare Diseases 2023 18:359
    Content type: Research Published on:

  12. Zellweger spectrum disorders (ZSD) and X-linked adrenoleukodystrophy (X-ALD) are inherited metabolic diseases characterized by dysfunction of peroxisomes, that are essential for lipid metabolism and redox bala...

    Authors: Vincenza Gragnaniello, Daniela Gueraldi, Andrea Puma, Anna Commone, Chiara Cazzorla, Christian Loro, Elena Porcù, Maria Stornaiuolo, Paolo Miglioranza, Leonardo Salviati, Ronald J. A. Wanders and Alberto Burlina
    Citation: Orphanet Journal of Rare Diseases 2023 18:358
    Content type: Research Published on:

  13. Mucopolysaccharidosis (MPS) II is a rare, X-linked lysosomal storage disease. Approximately two-thirds of patients have central nervous system involvement with some demonstrating progressive cognitive impairme...

    Authors: Joseph Muenzer, Barbara K. Burton, Hernan M. Amartino, Paul R. Harmatz, Luis González Gutiérrez-Solana, Matilde Ruiz-Garcia, Yuna Wu, David Merberg, David Alexanderian and Simon A. Jones
    Citation: Orphanet Journal of Rare Diseases 2023 18:357
    Content type: Research Published on:

  14. Limb-girdle muscular dystrophies (LGMDs) are a group of heterogeneous inherited diseases predominantly characterized by limb-girdle muscle weakness and dystrophic changes on histological analysis. The frequenc...

    Authors: Feng Lin, Kang Yang, Xin Lin, Ming Jin, Long Chen, Fu-ze Zheng, Liang-liang Qiu, Zhi-xian Ye, Hai-zhu Chen, Min-ting Lin, Ning Wang and Zhi-qiang Wang
    Citation: Orphanet Journal of Rare Diseases 2023 18:356
    Content type: Research Published on:

  15. Leigh syndrome, an inherited neurometabolic disorder, is estimated to be the most common pediatric manifestation of mitochondrial disease. No treatments are currently available for Leigh syndrome due to many h...

    Authors: Jesse D. Moreira, Karan K. Smith, Sophia Zilber, Kasey Woleben and Jessica L. Fetterman
    Citation: Orphanet Journal of Rare Diseases 2023 18:355
    Content type: Letter to the Editor Published on:

  16. Patients with the rare disease; Hereditary haemorrhagic telangiectasia (HHT) often bleed from telangiectatic lesions in mucosal surfaces. Studies suggest that impaired platelet function may also play a role in...

    Authors: Anne Lørup Lyster, Signe Hedengran Biørn, Anette Drøhse Kjeldsen, Christian Nielsen, Bibi Lange, Annette Dam Fialla and Pernille Just Vinholt
    Citation: Orphanet Journal of Rare Diseases 2023 18:354
    Content type: Research Published on:

  17. Autoimmune pulmonary alveolar proteinosis (aPAP) is a rare interstitial lung disease. COVID-19 is associated with worse prognosis in previous lung diseases patients. But the prognosis of aPAP patients after in...

    Authors: Chuanxin Duan, Wangji Zhou, Miaoyan Zhang, Chongsheng Cheng, Wenshuai Xu, Jinrong Dai, Shuzhen Meng, Keqi Chen, Yang Zhao, Song Liu, Shao-Ting Wang, Yanli Yang, Kai-Feng Xu and Xinlun Tian
    Citation: Orphanet Journal of Rare Diseases 2023 18:353
    Content type: Research Published on:

  18. Hereditary transthyretin amyloidosis (ATTRv) is a rare genetic disease that negatively affects patients' quality of life through the involvement of various organs and tissues. Despite a large amount of researc...

    Authors: Aina Gayà-Barroso, Juan González-Moreno, Adrián Rodríguez, Tomás Ripoll-Vera, Inés Losada-López, Margarita Gili, Milena Paneque, Sara Pérez-Martínez and Eugenia Cisneros-Barroso
    Citation: Orphanet Journal of Rare Diseases 2023 18:352
    Content type: Research Published on:

  19. Tetrahydrobiopterin (BH4) deficiency caused by 6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency is a rare disorder that is one of the major causes of hyperphenylalaninemia in Taiwan.

    Authors: Rai-Hseng Hsu, Ni-Chung Lee, Hui-An Chen, Wuh-Liang Hwu, Tung-Ming Chang and Yin-Hsiu Chien
    Citation: Orphanet Journal of Rare Diseases 2023 18:351
    Content type: Letter to the Editor Published on:

  20. Transthyretin amyloidosis (ATTR amyloidosis) is a progressive, multisystemic, life-threatening disease resulting from the deposition of variant or wild-type (ATTRwt amyloidosis) transthyretin amyloid fibrils i...

    Authors: Luca Gentile, Teresa Coelho, Angela Dispenzieri, Isabel Conceição, Márcia Waddington-Cruz, Arnt Kristen, Jonas Wixner, Igor Diemberger, Juan Gonzalez-Moreno, Eve Cariou, Mathew S. Maurer, Violaine Planté-Bordeneuve, Pablo Garcia-Pavia, Ivailo Tournev, Jose Gonzalez-Costello, Alejandra Gonzalez Duarte…
    Citation: Orphanet Journal of Rare Diseases 2023 18:350
    Content type: Research Published on:

  21. Tuberous sclerosis complex (TSC) is a rare multisystem disorder caused by mutations in the TSC1 or TSC2 gene. More than 90% of patients with TSC develop neurological and/or neuropsychiatric manifestations. The...

    Authors: D. Mammadova, J. Vecko, M. Hofmann, S. C. Schüssler, L. Deiters, A. Canda, A. K. Wieland, S. Gollwitzer, H. Hamer and Regina Trollmann
    Citation: Orphanet Journal of Rare Diseases 2023 18:349
    Content type: Research Published on:

  22. Over the last 15 years, Undiagnosed Diseases Programs have emerged to address the significant number of individuals with suspected but undiagnosed rare genetic diseases, integrating research and clinical care ...

    Authors: Ela Curic, Lisa Ewans, Ryan Pysar, Fulya Taylan, Lorenzo D. Botto, Ann Nordgren, William Gahl and Elizabeth Emma Palmer
    Citation: Orphanet Journal of Rare Diseases 2023 18:348
    Content type: Review Published on:

  23. The diagnosis and treatment of fibro-adipose vascular anomaly (FAVA) of the limb remains challenging since this entity is rare and complex. This paper is aimed to describe the clinical and imaging features, st...

    Authors: Huaijie Wang, Chong Xie, Weilong Lin, Peihua Wang, Weijia Yang and Zhengtuan Guo
    Citation: Orphanet Journal of Rare Diseases 2023 18:347
    Content type: Research Published on:

  24. Little is known about employment status, occupation, and disposable income in adults with NF1.

    Authors: Line Kenborg, Line E. Frederiksen, Michael Galanakis, Karoline Doser, Thomas T. Nielsen, Mia Aagaard Doherty, Hanne Hove, John R. Østergaard, Mette M. Handrup, Cecilie Ejerskov, John J. Mulvihill and Jeanette F. Winther
    Citation: Orphanet Journal of Rare Diseases 2023 18:346
    Content type: Research Published on:

  25. Precise data about ATTR-CM incidence rates at national level are scarce. Consequently, this study aimed to estimate the annual incidence and survival of transthyretin amyloid cardiomyopathy (ATTR-CM) in France...

    Authors: Thibaud Damy, Guillaume Bourel, Michel Slama, Vincent Algalarrondo, Olivier Lairez, Pauline Fournier, Jérôme Costa, Françoise Pelcot, Agnès Farrugia, Isabelle Durand Zaleski, Hervé Lilliu, Caroline Rault, Mathilde Bartoli, Stéphane Fievez, Anna Granghaud, Jeremie Rudant…
    Citation: Orphanet Journal of Rare Diseases 2023 18:345
    Content type: Research Published on:

  26. In metabolic stress, the cytosolic phosphoenolpyruvate carboxykinase (PEPCK-C) enzyme is involved in energy production through the gluconeogenesis pathway. PEPCK-C deficiency is a rare childhood-onset autosoma...

    Authors: Marwa Al Busaidi, Feda E. Mohamed, Eiman Al-Ajmi, Nadia Al Hashmi, Khalid Al-Thihli, Amna Al Futaisi, Watfa Al Mamari, Fathiya Al-Murshedi and Fatma Al-Jasmi
    Citation: Orphanet Journal of Rare Diseases 2023 18:344
    Content type: Research Published on:

  27. Norm-based scores used to assess cognitive ability have clinical value when describing functioning of patients with neuronopathic disorders compared with unaffected, same-age peers. However, they have limitati...

    Authors: Karen S. Yee, Costel Chirila, Eric Davenport, Deirdre Mladsi, Christine Barnett and William G. Kronenberger
    Citation: Orphanet Journal of Rare Diseases 2023 18:343
    Content type: Research Published on:

  29. Sickle cell disease (SCD) is an inherited chronic life-threatening disorder with increasing prevalence in Europe. People living with SCD in Europe mainly belong to vulnerable minorities, have a lower level of ...

    Authors: Mariangela Pellegrini, Subarna Chakravorty, Maria del Mar Manu Pereira, Beatrice Gulbis, Catriona Gilmour-Hamilton, Sandy Hayes, Mariane de Montalembert, Baba Psalm Duniya Inusa, Raffaella Colombatti and Noémi BA Roy
    Citation: Orphanet Journal of Rare Diseases 2023 18:341
    Content type: Research Published on:

  30. Multiple epiphyseal dysplasia (MED) is a rare congenital bone dysplasia. Patients with MED develop secondary hip osteoarthritis as early as the third to the fourth decade. Currently, there is no consensus on t...

    Authors: Yao-Yuan Chang, Chia-Che Lee, Sheng-Chieh Lin, Ken N. Kuo, Jia-Feng Chang, Kuan-Wen Wu and Ting-Ming Wang
    Citation: Orphanet Journal of Rare Diseases 2023 18:340
    Content type: Research Published on:

  31. Inflammatory Bowel Diseases (IBD) are known to occur in association with Hirschsprung disease (HSCR). Most of cases are represented by Crohn Disease (CD) occurring in patients with Total Colonic Aganglionosis ...

    Authors: M Erculiani, F Poluzzi, G Mottadelli, E Felici, Novi ML, M Caraccia, A Grandi, S Casella, L Giacometti, G Montobbio, I Ceccherini, E Di Marco, C Bonaretti, R Biassoni, M Squillario, A Pietrantoni…
    Citation: Orphanet Journal of Rare Diseases 2023 18:339
    Content type: Research Published on:

  32. The Italian Medicines Agency (AIFA) demands precise information on benefit/risk profile of home-based enzyme replacement therapy (ERT) for the treatment of patients with Pompe disease and Mucopolysaccharidosis...

    Authors: Antonio Toscano, Olimpia Musumeci, Michele Sacchini, Sabrina Ravaglia, Gabriele Siciliano, Agata Fiumara, Elena Verrecchia, Melania Maione, Jennifer Gentile, Rita Fischetto, Grazia Crescimanno, Roberta Taurisano, Annalisa Sechi, Serena Gasperini, Vittoria Cianci, Lorenzo Maggi…
    Citation: Orphanet Journal of Rare Diseases 2023 18:338
    Content type: Research Published on:

  33. Authors: Lothar Seefried, Ali Alzahrani, Pedro Arango Sancho, Justine Bacchetta, Rachel Crowley, Francesco Emma, Jonathan Gibbins, Anna Grandone, Muhammad Kassim Javaid, Gabriel Mindler, Adalbert Raimann, Anya Rothenbuhler, Ian Tucker, Leonid Zeitlin and Agnès Linglart
    Citation: Orphanet Journal of Rare Diseases 2023 18(Suppl 2):333
    Content type: Meeting report Published on:

    This article is part of a Supplement: Volume 18 Supplement 2

  34. Inclusion body myositis (IBM) is the most frequent type of myositis in elder patients with a slow chronic progression and refractory to treatment. Previous cost of illness (COI) studies in IBM used claims data...

    Authors: Katja C. Senn, Simone Thiele, Karsten Kummer, Maggie C. Walter and Klaus H. Nagels
    Citation: Orphanet Journal of Rare Diseases 2023 18:337
    Content type: Research Published on:

  35. Fetal skeletal dysplasia is a diverse group of degenerative diseases of bone and cartilage disorders that can lead to movement disorder and even death. This study aims to evaluate the diagnostic yield of sonog...

    Authors: Wanlu Liu, Jing Cao, Xinwei Shi, Yuqi Li, Fuyuan Qiao and Yuanyuan Wu
    Citation: Orphanet Journal of Rare Diseases 2023 18:336
    Content type: Research Published on:

  36. 22q11.2 Deletion Syndrome (22q11DS) is a genetic disorder characterized by the deletion of adjacent genes at a location specified as q11.2 of chromosome 22, resulting in an array of clinical phenotypes includi...

    Authors: Woosub Shin, Martina Kutmon, Eleni Mina, Therese van Amelsvoort, Chris T Evelo and Friederike Ehrhart
    Citation: Orphanet Journal of Rare Diseases 2023 18:335
    Content type: Research Published on:

  37. The median arcuate ligament syndrome (MALS) is a rare disease caused by compression of the celiac artery (ORPHA: 293208). Surgical treatment of MALS aims to restore normal celiac blood flow by laparoscopic cel...

    Authors: Anna Woestemeier, Alexander Semaan, Andreas Block, Jan Arensmeyer, Jonas Dohmen, Alexander Kania, Frauke Verrel, Martin Mücke, Jörg C. Kalff and Philipp Lingohr
    Citation: Orphanet Journal of Rare Diseases 2023 18:334
    Content type: Research Published on:

  38. Pegunigalsidase alfa is a novel, PEGylated α-galactosidase-A enzyme-replacement therapy approved in the EU and US to treat patients with Fabry disease (FD).

    Authors: Aleš Linhart, Gabriela Dostálová, Kathy Nicholls, Michael L. West, Camilla Tøndel, Ana Jovanovic, Pilar Giraldo, Bojan Vujkovac, Tarekegn Geberhiwot, Einat Brill-Almon, Sari Alon, Raul Chertkoff, Rossana Rocco and Derralynn Hughes
    Citation: Orphanet Journal of Rare Diseases 2023 18:332
    Content type: Research Published on:

  39. Authors: Lucia Masárová, Roman Panovský, Martin Pešl, Luz Mojica-Pisciotti Mary, Tomáš Holeček, Vladimír Kincl, Lenka Juříková, Jan Máchal, Lukáš Opatřil and Věra Feitová
    Citation: Orphanet Journal of Rare Diseases 2023 18:331
    Content type: Correction Published on:

    The original article was published in Orphanet Journal of Rare Diseases 2023 18:283

  40. Global disease registries are critical to capturing common patient related information on rare illnesses, allowing patients and their families to provide information about their condition in a safe, accessible...

    Authors: Megan Tones, Nikolajs Zeps, Yvette Wyborn, Adam Smith, Roberto A. Barrero, Helen Heussler, Meagan Cross, James McGree and Matthew Bellgard
    Citation: Orphanet Journal of Rare Diseases 2023 18:330
    Content type: Letter to the Editor Published on:

  41. Congenital disorders of glycosylation (CDG) are a complex and heterogeneous family of rare metabolic diseases. With a clinical history that dates back over 40 years, it was the recent multi-omics advances that...

    Authors: Rita Francisco, Sandra Brasil, Joana Poejo, Jaak Jaeken, Carlota Pascoal, Paula A. Videira and Vanessa dos Reis Ferreira
    Citation: Orphanet Journal of Rare Diseases 2023 18:329
    Content type: Review Published on:

  42. Progressive ataxias are rare and complex neurological disorders that represent a challenge for the clinicians to diagnose and manage them. This study explored the patient pathways of individuals attending spec...

    Authors: Julie Vallortigara, Julie Greenfield, Barry Hunt, Deborah Hoffman, Carola Reinhard, Holm Graessner, Antonio Federico, Vinciane Quoidbach, Steve Morris and Paola Giunti
    Citation: Orphanet Journal of Rare Diseases 2023 18:328
    Content type: Research Published on:

  43. The purpose of this study was twofold: (i) To assess the parents’ experiences and perception of participating in a “Parental Intervention Program for Preschool children with Rare Diseases” (PIPP-RDs). (ii) To ...

    Authors: Gry Velvin, Vigdis Johnsen, Ingeborg Beate Lidal and Ellen Berg
    Citation: Orphanet Journal of Rare Diseases 2023 18:327
    Content type: Research Published on:

  44. The regimen of nivolumab plus ipilimumab (NI) has been recommended by the National Comprehensive Cancer Network Clinical Practice Guidelines in Oncology-Malignant Pleural Mesothelioma (Version 1.2022) and Chin...

    Authors: Liu Yang, Xiaobing Song, Wanxian Zeng, Zhiwei Zheng and Wenqiang Lin
    Citation: Orphanet Journal of Rare Diseases 2023 18:326
    Content type: Research Published on:

  45. A new active substance called “dersimelagon” (MT-7117) is being tested as an alternative treatment option for Erythropoietic protoporphyria (EPP). At the moment, dersimelagon is being tested both in the US and...

    Authors: Jasmin Barman-Aksözen, Mattia Andreoletti and Alessandro Blasimme
    Citation: Orphanet Journal of Rare Diseases 2023 18:325
    Content type: Position statement Published on:

  46. In the European Union, a disease is defined as rare when it affects fewer than 1 in 2000 people. Currently, there are up to 8000 described rare diseases (RDs), collectively affecting 30 million people in the E...

    Authors: Federica Pieroni, Sonia Marrucci, Linda Di Pietro, Cecilia Berni and Cristina Scaletti
    Citation: Orphanet Journal of Rare Diseases 2023 18:324
    Content type: Research Published on:

  47. Hereditary transthyretin (ATTRv) amyloidosis is a rare and autosomal dominant disorder associated with mutations in the transthyretin gene. Patients present with diverse symptoms related to sensory, motor, and...

    Authors: Yukio Ando, Marcia Waddington-Cruz, Yoshiki Sekijima, Haruki Koike, Mitsuharu Ueda, Hiroaki Konishi, Tomonori Ishii and Teresa Coelho
    Citation: Orphanet Journal of Rare Diseases 2023 18:323
    Content type: Review Published on:

  48. Fabry disease is a rare, progressive X-linked lysosomal storage disorder. It is caused by mutations in the GLA gene resulting in deficiency of α-galactosidase A (α-Gal A), leading to peripheral neuropathy, cardio...

    Authors: Ben Haycroft, Abigail Stevenson, Richard Stork, Stuart Gaffney, Philip Morgan, Karl Patterson and Ana Jovanovic
    Citation: Orphanet Journal of Rare Diseases 2023 18:322
    Content type: Review Published on:

  49. Generalized pairwise comparisons (GPC) can be used to assess the net benefit of new treatments for rare diseases. We show the potential of GPC through simulations based on data from a natural history study in ...

    Authors: Vaiva Deltuvaite-Thomas, Mickaël De Backer, Samantha Parker, Marie Deneux, Lynda E. Polgreen, Cara O’Neill, Samuel Salvaggio and Marc Buyse
    Citation: Orphanet Journal of Rare Diseases 2023 18:321
    Content type: Research Published on:
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  • ISSN: 1750-1172 (electronic)

Orphanet Journal of Rare Diseases

ISSN: 1750-1172