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  1. The objective of this study is to analyse retrospective, observational, longitudinal growth (weight, height and BMI) data in ambulatory boys aged 5–12 years with Duchenne muscular dystrophy (DMD).

    Authors: Georgia Stimpson, Sarah Raquq, Mary Chesshyre, Mary Fewtrell, Deborah Ridout, Anna Sarkozy, Adnan Manzur, Vandana Ayyar Gupta, Ramona De Amicis, Francesco Muntoni and Giovanni Baranello

    Citation: Orphanet Journal of Rare Diseases 2022 17:20

    Content type: Research

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  2. Cerliponase alfa, an enzyme replacement therapy for neuronal ceroid lipofuscinosis type 2 (CLN2), is currently available in England through a managed access agreement (MAA). It is administered every 2 weeks vi...

    Authors: Amanda Mortensen, Eva M. Raebel and Samantha Wiseman

    Citation: Orphanet Journal of Rare Diseases 2022 17:19

    Content type: Research

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  3. Authors: Adele D’Amico, Antonella Longo, Fabiana Fattori, Michele Tosi, Luca Bosco, Maria Beatrice Chiarini Testa, Maria Giovanna Paglietti, Claudio Cherchi, Adelina Carlesi, Irene Mizzoni and Enrico Bertini

    Citation: Orphanet Journal of Rare Diseases 2022 17:18

    Content type: Correction

    Published on:

    The original article was published in Orphanet Journal of Rare Diseases 2021 16:425

  4. Lysosomal Storage Diseases (LSDs) are a group of Rare Diseases (RDs) caused by lysosomal enzyme deficiencies. Patients with LSDs suffer from a wide range of symptoms with a strong impact in their daily routine...

    Authors: Juan de Dios García-Díaz, Mónica López-Rodríguez, Montserrat Morales-Conejo and Antoni Riera-Mestre

    Citation: Orphanet Journal of Rare Diseases 2022 17:17

    Content type: Research

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  5. Protracted febrile myalgia syndrome (PFMS) is a rare complication of Familial Mediterranean fever (FMF). The diagnosis is based on clinical symptoms and is often challenging, especially when PFMS is the initia...

    Authors: Neta Aviran, Gil Amarilyo, Yaniv Lakovsky, Rotem Tal, Jenny Garkaby, Rubi Haviv, Yosef Uziel, Shiri Spielman, Hamada Mohammad Natour, Yonatan Herman, Oded Scheuerman, Yonatan Butbul Aviel, Yoel Levinsky and Liora Harel

    Citation: Orphanet Journal of Rare Diseases 2022 17:15

    Content type: Research

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  6. 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

    Content type: Review

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  7. Commonly known as Batten disease, the neuronal ceroid lipofuscinoses (NCLs) are a genetically heterogeneous group of rare pediatric lysosomal storage disorders characterized by the intracellular accumulation o...

    Authors: R. Badilla-Porras, A. Echeverri-McCandless, J. M. Weimer, A. Ulate-Campos, A. Soto-Rodríguez, A. Gutiérrez-Mata, L. Hernández-Con, S. Bogantes-Ledezma, A. Balmaceda-Meza, J. Brudvig and A. Sanabria-Castro

    Citation: Orphanet Journal of Rare Diseases 2022 17:13

    Content type: Research

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  8. The “Primary Immunodeficiencies (PIDs) principles of care” were published in 2014 as the gold standard for care of patients with PIDs, setting a common goal for stakeholders to ensure that patients with PID ha...

    Authors: Leire Solís, Julia Nordin, Johan Prevot, Nizar Mahlaoui, Silvia Sánchez-Ramón, Adli Ali, Elodie Cassignol, John W. Seymour and Martine Pergent

    Citation: Orphanet Journal of Rare Diseases 2022 17:11

    Content type: Research

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  9. Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) is a rare autosomal recessive systemic autoimmune disease caused by mutations in the autoimmune regulator (AIRE) gene. Incidence of...

    Authors: Aria Setoodeh, Samareh Panjeh-Shahi, Fariba Bahmani, Fatemeh Vand-Rajabpour, Nazanin Jalilian, Fatemeh Sayarifard, Farzaneh Abbasi, Azadeh Sayarifard, Parastoo Rostami, Nima Parvaneh, Haleh Akhavan-Niaki, Mohamadreza Ahmadifard and Mina Tabrizi

    Citation: Orphanet Journal of Rare Diseases 2022 17:10

    Content type: Research

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  10. Disease-specific patient-reported outcome measures (PROMs) are fundamental to understanding the impact on, and expectations of, patients with genetic disorders, and can facilitate constructive and educated con...

    Authors: Deborah Elstein, Nadia Belmatoug, Patrick Deegan, Özlem Göker-Alpan, Derralynn A. Hughes, Ida Vanessa D. Schwartz, Neal Weinreb, Nicola Bonner, Charlotte Panter, Donna Fountain, Andrew Lenny, Louise Longworth, Rachael Miller, Koonal Shah, Jörn Schenk, Rohini Sen…

    Citation: Orphanet Journal of Rare Diseases 2022 17:9

    Content type: Research

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  11. Hereditary Haemorrhagic Telangiectasia (HHT) is an autosomal dominant disorder characterized by several clinical symptoms including epistaxis, arteriovenous malformations (AVM), and telangiectasia. In 2018, Eu...

    Authors: Troels Hvelplund, Bibi Lange, Susanne Djernes Bird, Malene Korsholm and Anette Drøhse Kjeldsen

    Citation: Orphanet Journal of Rare Diseases 2022 17:8

    Content type: Research

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  12. Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder with progressive motor system impairment, and recent evidence has identified the extra-motor involvement. Small fiber neuropathy reflec...

    Authors: Jiayu Fu, Ji He, Yixuan Zhang, Ziyuan Liu, Haikun Wang, Jiameng Li, Lu Chen and Dongsheng Fan

    Citation: Orphanet Journal of Rare Diseases 2022 17:7

    Content type: Research

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  13. Fabry disease (FD) is a treatable X-linked condition leading to progressive cardiac disease, arrhythmia and premature death. We aimed to increase awareness of the arrhythmogenicity of Fabry cardiomyopathy, by ...

    Authors: Ravi Vijapurapu, William Bradlow, Francisco Leyva, James C. Moon, Abbasin Zegard, Nigel Lewis, D. Kotecha, Ana Jovanovic, Derralynn A. Hughes, Peter Woolfson, Richard P. Steeds and Tarekegn Geberhiwot

    Citation: Orphanet Journal of Rare Diseases 2022 17:6

    Content type: Research

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  14. Recent advances in technology and expanding therapeutic opportunities in neuromuscular disorders has resulted in greater interest in and development of remote assessments. Over the past year, the rapid and abr...

    Authors: Jacqueline Montes, Katy J. Eichinger, Amy Pasternak, Cara Yochai and Kristin J. Krosschell

    Citation: Orphanet Journal of Rare Diseases 2022 17:5

    Content type: Position statement

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  15. Achondroplasia (ACH), the most common form of disproportionate short stature, is caused by a pathogenic variant in the fibroblast growth factor receptor 3 gene. Recent advances in drug therapy for ACH have hig...

    Authors: Virginia Fano, Chong A. Kim, Pablo Rosselli, Regina El Dib, Renée Shediac, Tatiana Magalhães, Debora Mesojedovas and Juan Llerena Jr

    Citation: Orphanet Journal of Rare Diseases 2022 17:4

    Content type: Review

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  16. Information about the specific regulatory environment of orphan drugs is scarce and inconsistent. Uncertainties surrounding the postmarketing long-term safety of orphan drugs remain. This study aimed to evalua...

    Authors: Min Fan, Adrienne Y. L. Chan, Vincent K. C. Yan, Xinning Tong, Lauren K. W. Lau, Eric Y. F. Wan, Eliza Y. T. Tam, Patrick Ip, Terry Y. Lum, Ian C. K. Wong and X. Li

    Citation: Orphanet Journal of Rare Diseases 2022 17:3

    Content type: Research

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  17. The belief that genetics plays a major role in the pathogenesis of congenital heart defects (CHD) has grown popular among clinicians. Although some studies have focused on the genetic testing of foetuses with ...

    Authors: Fengying Lu, Peng Xue, Bin Zhang, Jing Wang, Bin Yu and Jianbin Liu

    Citation: Orphanet Journal of Rare Diseases 2022 17:2

    Content type: Research

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  18. 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

    Content type: Research

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  19. 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

    Content type: Letter to the Editor

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  20. Achondroplasia is the most common genetic skeletal disorder causing disproportionate short stature/dwarfism. Common additional features include spinal stenosis, midface retrusion, macrocephaly and a generalize...

    Authors: Julie E. Hoover-Fong, Kerry J. Schulze, Adekemi Y. Alade, Michael B. Bober, Ethan Gough, S. Shahrukh Hashmi, Jacqueline T. Hecht, Janet M. Legare, Mary Ellen Little, Peggy Modaff, Richard M. Pauli, David F. Rodriguez-Buritica, Maria E. Serna, Cory Smid, Chengxin Liu and John McGready

    Citation: Orphanet Journal of Rare Diseases 2021 16:522

    Content type: Research

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  21. Real-world studies of the burden of severe haemophilia B in the context of recent therapeutic advances such as extended half-life (EHL) factor IX (FIX) products are limited. We analysed data from the recent CH...

    Authors: Tom Burke, Sohaib Asghar, Jamie O’Hara, Margaret Chuang, Eileen K. Sawyer and Nanxin Li

    Citation: Orphanet Journal of Rare Diseases 2021 16:521

    Content type: Research

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  22. Recently published European Society for Phenylketonuria (ESPKU) guidelines have recommended a lifelong diet with phenylalanine (Phe) control ≤ 600 μmol/L for phenylketonuria (PKU) patients. This study aimed to...

    Authors: George Altman, Kamran Hussain, Diane Green, Boyd J. G. Strauss and Gisela Wilcox

    Citation: Orphanet Journal of Rare Diseases 2021 16:520

    Content type: Research

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  23. Gaucher disease (GD) is a rare lysosomal storage disorder, characterized by hepatosplenomegaly and pancytopenia, with or without neurologic involvement. The disorder is categorized into three phenotypes: GD ty...

    Authors: Tim Phetthong, Thipwimol Tim-Aroon, Arthaporn Khongkraparn, Saisuda Noojarern, Chulaluck Kuptanon, Khunton Wichajarn, Achara Sathienkijkanchai, Kanya Suphapeetiporn, Pimlak Charoenkwan, Adisak Tantiworawit, Naruwan Noentong and Duangrurdee Wattanasirichaigoon

    Citation: Orphanet Journal of Rare Diseases 2021 16:519

    Content type: Research

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  24. Fabry disease (FD) is a rare genetic disorder characterized by glycosphingolipid accumulation and progressive damage across multiple organ systems. Due to its heterogeneous presentation, the condition is likel...

    Authors: John L. Jefferies, Alison K. Spencer, Heather A. Lau, Matthew W. Nelson, Joseph D. Giuliano, Joseph W. Zabinski, Costas Boussios, Gary Curhan, Richard E. Gliklich and David G. Warnock

    Citation: Orphanet Journal of Rare Diseases 2021 16:518

    Content type: Research

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  25. Systemic sclerosis (SSc) is a rare detrimental disease warranting global research efforts. Evaluating how socio-economic factors impact country research output on SSc could help to identify solutions advancing...

    Authors: Wei Guo, Zeyu Zhou, Yinhe Liang, Chuanhui Xu, Lin Zeng, Zhiyong Dong and Rong Mu

    Citation: Orphanet Journal of Rare Diseases 2021 16:517

    Content type: Research

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  26. Pompe disease is an autosomal recessive inherited metabolic disorder caused by a deficiency of the acid α-glucosidase (GAA). Pompe disease manifests as an accumulation of lysosomal glycogen in the skeletal and...

    Authors: Takaaki Sawada, Jun Kido, Keishin Sugawara, Ken Momosaki, Shinichiro Yoshida, Kanako Kojima-Ishii, Takahito Inoue, Shirou Matsumoto, Fumio Endo, Shouichi Ohga, Shinichi Hirose and Kimitoshi Nakamura

    Citation: Orphanet Journal of Rare Diseases 2021 16:516

    Content type: Research

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  27. China has made tremendous progresses in serving the needs of its people living with rare diseases in the past decade, especially over the last 5 years. The Chinese government’s systematic approach included a s...

    Authors: Jian Guo, Peng Liu, Limeng Chen, Haohan Lv, Jie Li, Weichao Yu, Kaifeng Xu, Yicheng Zhu, Zhihong Wu, Zhuang Tian, Ye Jin, Rachel Yang, Weihong Gu and Shuyang Zhang

    Citation: Orphanet Journal of Rare Diseases 2021 16:515

    Content type: Research

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  28. Inherited retinal diseases (IRDs) are a diverse group of degenerative diseases of the retina that can lead to significant reduction in vision and blindness. Because of the considerable phenotypic overlap among...

    Authors: Byron L. Lam, Bart P. Leroy, Graeme Black, Tuyen Ong, Dan Yoon and Karmen Trzupek

    Citation: Orphanet Journal of Rare Diseases 2021 16:514

    Content type: Review

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  29. Thoracic aortic aneurysm and dissection (TAAD) is a hidden-onset but life-threatening disorder with high clinical variability and genetic heterogeneity. In recent years, an increasing number of genes have been...

    Authors: Guoyan Zhu, Mingyao Luo, Qianlong Chen, Yinhui Zhang, Kun Zhao, Yujing Zhang, Chang Shu, Hang Yang and Zhou Zhou

    Citation: Orphanet Journal of Rare Diseases 2021 16:513

    Content type: Research

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  30. While classified as a rare condition, a congenital disorder of the corpus callosum (DCC) is one of the most commonly identified brain anomalies in newborns, occurring in 1:4000 live births. Advances in imaging...

    Authors: Maree Maxfield, Monica S. Cooper, Anne Kavanagh, Alexandra Devine and Liz Gill Atkinson

    Citation: Orphanet Journal of Rare Diseases 2021 16:512

    Content type: Research

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  31. Hereditary hemorrhagic telangiectasia (HHT) is a rare genetic disease characterized by a deregulated neo-angiogenesis. Besides a mainly vascular phenotype (muco-cutaneous telangiectases, arteriovenous malforma...

    Authors: Alexandre Guilhem, Pierre Portalès, Sophie Dupuis-Girod, Sophie Rivière and Thierry Vincent

    Citation: Orphanet Journal of Rare Diseases 2021 16:511

    Content type: Research

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  32. New opportunities have arisen for development of therapies for rare diseases with the increased focus and progress in the field. However, standardised framework integrating individual initiatives has not been ...

    Authors: Mattias Rudebeck, Ciarán Scott, Nicholas P. Rhodes, Christa van Kan, Birgitta Olsson, Mohammed Al-sbou, Anthony K. Hall, Nicolas Sireau and Lakshminarayan R. Ranganath

    Citation: Orphanet Journal of Rare Diseases 2021 16:510

    Content type: Position statement

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  33. Fabry disease (FD) remains poorly recognized, especially in children in China. Considering the diversity and nonspecific clinical manifestations accompanying with life-threatening aspect of this disease, metho...

    Authors: Qian Shen, Jialu Liu, Jing Chen, Shuizheng Zhou, Yi Wang, Lifei Yu, Li Sun, Liuhui Wang, Bingbing Wu, Fang Liu, Yun Cao, Ying Huang, Jianshe Wang, Chenhao Yang, Daqian Zhu, Yangyang Ma…

    Citation: Orphanet Journal of Rare Diseases 2021 16:509

    Content type: Research

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  34. Observational studies have suggested that telomere length is associated with amyotrophic lateral sclerosis (ALS). However, whether this association is causal remains unclear. In this study, we aimed to explore...

    Authors: Kailin Xia, Linjing Zhang, Gan Zhang, Yajun Wang, Tao Huang and Dongsheng Fan

    Citation: Orphanet Journal of Rare Diseases 2021 16:508

    Content type: Research

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  35. Wolman disease (WD), the rapidly progressive phenotype of lysosomal acid lipase (LAL) deficiency, presents in neonates with failure to thrive and hepatosplenomegaly, and leads to multi-organ failure and death ...

    Authors: Tanguy Demaret, Florence Lacaille, Camille Wicker, Jean-Baptiste Arnoux, Juliette Bouchereau, Claire Belloche, Cyril Gitiaux, David Grevent, Christine Broissand, Dalila Adjaoud, Marie-Thérèse Abi Warde, Dominique Plantaz, Soumeya Bekri, Pascale de Lonlay and Anaïs Brassier

    Citation: Orphanet Journal of Rare Diseases 2021 16:507

    Content type: Research

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  36. Authors: Junqi Feng, Chenxi Yang, Ling Zhu, Yuchen Zhang, Xiaoxu Zhao, Chi Chen, Qi-xing Chen, Qiang Shu, Pingping Jiang and Fan Tong

    Citation: Orphanet Journal of Rare Diseases 2021 16:505

    Content type: Correction

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    The original article was published in Orphanet Journal of Rare Diseases 2021 16:392

  37. FLNA Loss-of-Function (LoF) causes periventricular nodular heterotopia type 1 (PVNH1), an acknowledged cause of seizures of various types. Neurological symptoms are inconstant, and cardiovascular (CV) defects or ...

    Authors: Clarisse Billon, Salma Adham, Natalia Hernandez Poblete, Anne Legrand, Michael Frank, Laurent Chiche, Stephane Zuily, Karelle Benistan, Laurent Savale, Khaoula Zaafrane-Khachnaoui, Anne-Claire Brehin, Laurence Bal, Tiffany Busa, Mélanie Fradin, Chloé Quelin, Bertrand Chesneau…

    Citation: Orphanet Journal of Rare Diseases 2021 16:504

    Content type: Research

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  38. Primary carnitine deficiency (PCD) is an autosomal recessive disorder of carnitine transportation that leads to impaired fatty acid oxidation. Large-scale studies on newborn screening (NBS) for PCD are limited...

    Authors: Yiming Lin, Bangbang Lin, Yanru Chen, Zhenzhu Zheng, Qingliu Fu, Weihua Lin and Weifeng Zhang

    Citation: Orphanet Journal of Rare Diseases 2021 16:503

    Content type: Research

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    The Correction to this article has been published in Orphanet Journal of Rare Diseases 2022 17:21

  39. Gaucher disease (GD) is caused by reduced lysosomal enzyme β-glucocerebrosidase activity. Heterogeneous genotypes and phenotypes have been observed within GD types and across ethnicities. Enzyme replacement th...

    Authors: Rieko Sagara, Masahide Ishigaki, Manami Otsuka, Kei Murayama, Hiroyuki Ida and Jovelle Fernandez

    Citation: Orphanet Journal of Rare Diseases 2021 16:502

    Content type: Research

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  40. Mucopolysaccharidosis II (MPS II) is a rare lysosomal storage disease characterized by cognitive impairment in most patients. This post hoc analysis evaluated changes in cognitive function, adaptive behavior a...

    Authors: Karen S. Yee, Yanyu Wu, Magdalena Harrington and Susan E. Waisbren

    Citation: Orphanet Journal of Rare Diseases 2021 16:501

    Content type: Research

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  41. Research about pediatric patients’ perspective on mucopolysaccharidosis type VI (MPS VI) and its impact on daily life is limited. We aimed to identify the disease concepts of interest that most impact function...

    Authors: Beth Leiro, Dawn Phillips, Melanie Duiker, Paul Harmatz and Sharon Charles

    Citation: Orphanet Journal of Rare Diseases 2021 16:500

    Content type: Research

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  42. Bleeding anomalies have been reported in patients affected by Noonan syndrome. No study has been performed in patients with molecularly confirmed RASopathy. We aimed to characterize the frequency and types of ...

    Authors: Francesca Di Candia, Valeria Marchetti, Ferdinando Cirillo, Alessandro Di Minno, Carmen Rosano, Stefano Pagano, Maria Anna Siano, Mariateresa Falco, Antonia Assunto, Giovanni Boccia, Gerardo Magliacane, Valentina Pinna, Alessandro De Luca, Marco Tartaglia, Giovanni Di Minno, Pietro Strisciuglio…

    Citation: Orphanet Journal of Rare Diseases 2021 16:499

    Content type: Research

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  43. COVID-19 has affected our society at large, particularly vulnerable groups, such as children suffering from rare diseases and their parents. However, the psychosocial influences of COVID-19 on these have yet t...

    Authors: Mareike Fuerboeter, Johannes Boettcher, Claus Barkmann, Holger Zapf, Rojin Nazarian, Silke Wiegand-Grefe, Konrad Reinshagen and Michael Boettcher

    Citation: Orphanet Journal of Rare Diseases 2021 16:498

    Content type: Research

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  44. Rare diseases occur in early childhood and have a major impact on the quality of life of the affected children and their families. Their need for psychosocial support is considerable, but psychosocial care in ...

    Authors: Stefanie Witt, Kaja Kristensen, Silke Wiegand-Grefe, Johannes Boettcher, Janika Bloemeke, Christina Wingartz, Monika Bullinger and Julia Quitmann

    Citation: Orphanet Journal of Rare Diseases 2021 16:497

    Content type: Research

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  45. The left ventricular noncompaction cardiomyopathy (LVNC) is a rare subtype of cardiomyopathy associated with a high risk of heart failure (HF), thromboembolism, arrhythmia, and sudden cardiac death.

    Authors: Yubi Lin, Jiana Huang, Zhiling Zhu, Zuoquan Zhang, Jianzhong Xian, Zhe Yang, Tingfeng Qin, Linxi Chen, Jingmin Huang, Yin Huang, Qiaoyun Wu, Zhenyu Hu, Xiufang Lin and Geyang Xu

    Citation: Orphanet Journal of Rare Diseases 2021 16:496

    Content type: Research

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  46. Niemann-Pick disease type C (NPC) is a debilitating condition that impacts patients’ and caregivers’ quality of life (QOL) and reduces the patient’s life expectancy. Since there is little qualitative research ...

    Authors: Eugen Mengel, Marc C. Patterson, Michael Chladek, Christina Guldberg, Christine í Dali, Tara Symonds, Lucy Lloyd-Price, Toni Mathieson, Joslyn Crowe and Claire Burbridge

    Citation: Orphanet Journal of Rare Diseases 2021 16:493

    Content type: Research

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