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  1. Diagnosis of rare diseases remains a challenge in China. We describe our experience with Birt-Hogg-Dubé syndrome (BHDS) encountered at a Rare Lung Disease Clinic recently established in China.

    Authors: Guofeng Zhang, Jinli Liu, Yushuo Wang, Yue Wang, Xianliang Jiang, Yan Peng, Jun Xiao, Wei Wei, Bing Shen, Long Yi, Jay H. Ryu and Xiaowen Hu
    Citation: Orphanet Journal of Rare Diseases 2022 17:203
  2. 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
  3. Inherited retinal dystrophies (IRD) and optic neuropathies (ION) are the two major causes world-wide of early visual impairment, frequently leading to legal blindness. These two groups of pathologies are highl...

    Authors: Aymane Bouzidi, Hicham Charoute, Majida Charif, Ghita Amalou, Mostafa Kandil, Abdelhamid Barakat and Guy Lenaers
    Citation: Orphanet Journal of Rare Diseases 2022 17:197
  4. Research in a variety of countries indicates that healthcare access and health-related quality of life are challenged among people with a variety of rare diseases (RDs). However, there has been little systemat...

    Authors: Kathleen Bogart, Amanda Hemmesch, Erica Barnes, Thomas Blissenbach, Arthur Beisang and Patti Engel
    Citation: Orphanet Journal of Rare Diseases 2022 17:196
  5. Glycogen storage disease type Ib (GSD Ib) is a severe disorder of carbohydrate metabolism due to bi-allelic variants in SLC37A4. It is associated with neutropaenia and neutrophil dysfunction, which has recently b...

    Authors: Rebecca K. Halligan, R. Neil Dalton, Charles Turner, Katherine A. Lewis and Helen R. Mundy
    Citation: Orphanet Journal of Rare Diseases 2022 17:195
  6. There are scarce publications regarding the presentation and outcome of Becker muscular dystrophy in adulthood when idiopathic dilated cardiomyopathy is the initial disease manifestation. We performed a system...

    Authors: Gaspar Del Rio-Pertuz, Cristina Morataya, Kanak Parmar, Sarah Dubay and Erwin Argueta-Sosa
    Citation: Orphanet Journal of Rare Diseases 2022 17:194
  7. Lysosomal acid lipase deficiency (LALD) is an ultra-rare, inherited metabolic disease within the category of lysosomal storage disorders, affecting an infant’s ability to metabolise cholesterol. Developments i...

    Authors: S. Hassall, D. M. Smith, S. Rust, S. A. Jones and A. Wittkowski
    Citation: Orphanet Journal of Rare Diseases 2022 17:193
  8. Lymphatic malformations (LMs) represent a potentially life-threatening, rare disease of the lymphatic system characterized by development of abnormal vessels, outpouchings, or cysts filled with lymphatic fluid...

    Authors: Jack Ray Gallagher, J. Martini, S. Carroll, A. Small and J. Teng
    Citation: Orphanet Journal of Rare Diseases 2022 17:192
  9. 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
  10. Mucopolysaccharidosis IVA (MPS IVA), or Morquio A syndrome, is a rare inherited metabolic disorder caused by deficiency of the lysosomal enzyme N-acetylgalactosamine-6-sulfatase. A progressive systemic skeleta...

    Authors: Martin Magner, Zsuzsanna Almássy, Zoran Gucev, Beata Kieć-Wilk, Vasilica Plaiasu, Anna Tylki-Szymańska, Dimitrios Zafeiriou, Ioannis Zaganas and Christina Lampe
    Citation: Orphanet Journal of Rare Diseases 2022 17:190
  11. Relapsing polychondritis (RP) is a rare inflammatory disease characterized by recurrent inflammation and destruction of cartilaginous tissues. RP has characteristics of autoimmune disease and some reports have...

    Authors: Toshiki Nakajima, Hajime Yoshifuji, Yoshihisa Yamano, Kimiko Yurugi, Yasuo Miura, Taira Maekawa, Tsuneyasu Yoshida, Hiroshi Handa, Koichiro Ohmura, Tsuneyo Mimori and Chikashi Terao
    Citation: Orphanet Journal of Rare Diseases 2022 17:101
  12. PROS disorders are driven by somatic, gain-of-function mutations in PIK3CA that result in hyperactivation of the phosphatidylinositol-3-kinase (PI3K) signaling pathway. PROS encompasses a broad spectrum of overla...

    Authors: Lara Rodríguez-Laguna, Kristen Davis, Mellenee Finger, Dawn Aubel, Robin Vlamis and Craig Johnson
    Citation: Orphanet Journal of Rare Diseases 2022 17:189
  13. Over the past decade, a new class of drugs called CFTR (cystic fibrosis transmembrane conductance regulator) modulators have shown to be able to improve clinical outcomes in patient with Cystic Fibrosis. In th...

    Authors: Enrico Costa, Silvia Girotti, Francesca Pauro, Hubert G. M. Leufkens and Marco Cipolli
    Citation: Orphanet Journal of Rare Diseases 2022 17:188
  14. In recent years, more studies have observed that patients with Prader–Willi syndrome have lower insulin levels and lower insulin resistance than body mass index-matched controls, which may suggest protected gl...

    Authors: Yanjie Qian, Fangling Xia, Yiming Zuo, Mianling Zhong, Lili Yang, Yonghui Jiang and Chaochun Zou
    Citation: Orphanet Journal of Rare Diseases 2022 17:187
  15. 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
  16. Pseudoxanthoma elasticum (PXE, OMIM# 264800) is an inborn error of metabolism causing ectopic soft tissue calcification due to low plasma pyrophosphate concentration. We aimed to assess the prevalence of PXE i...

    Authors: Saku Pelttari, Suvi Väärämäki, Olivier Vanakker, Shana Verschuere, Hannu Uusitalo, Heini Huhtala, Tero Hinkka, Ilkka Pörsti and Pasi I. Nevalainen
    Citation: Orphanet Journal of Rare Diseases 2022 17:185
  17. People with Huntington's disease (HD) have increased functional and cognitive dependence. While numerous clinical, genetic, and therapeutic management studies have been carried out, few studies have investigat...

    Authors: Luz-Estella Varela, María-Mercedes Arias, María-Antonia Martorell-Poveda, Clara V. Giraldo and Rosa A. Estrada-Acuña
    Citation: Orphanet Journal of Rare Diseases 2022 17:184
  18. Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is associated with ventricular arrhythmia, heart failure (HF), and sudden death. Thromboembolism is also an important and serious complication...

    Authors: Jia Chen, Yuting Ma, Hong Li, Zhuo Lin, Zhe Yang, Qin Zhang, Feng Wang, Yanping Lin, Zebing Ye and Yubi Lin
    Citation: Orphanet Journal of Rare Diseases 2022 17:183
  19. This study aimed to identify fit-for-purpose clinical outcome assessments (COAs) to evaluate physical function, as well as social and emotional well-being in clinical trials enrolling a pediatric population wi...

    Authors: Natalie V. J. Aldhouse, Helen Kitchen, Chloe Johnson, Chris Marshall, Hannah Pegram, Sheryl Pease, Sam Collins, Christine L. Baker, Katherine Beaverson, Chandler Crews, Jill Massey and Kathleen W. Wyrwich
    Citation: Orphanet Journal of Rare Diseases 2022 17:182
  20. 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
  21. Ceroid lipofuscinoses neuronal 6 (CLN6) disease belongs to the neuronal ceroid lipofuscinoses (NCLs), complex and genetically heterogeneous disorders with wide geographical and phenotypic variation. The first ...

    Authors: Corina-Marcela Rus, Thomas Weissensteiner, Catarina Pereira, Iuliana Susnea, Bright D. Danquah, Galina Morales Torres, Maria Eugenia Rocha, Claudia Cozma, Deepa Saravanakumar, Sumanth Mannepalli, Krishna K. Kandaswamy, Sebastiano Di Bucchianico, Ralf Zimmermann, Arndt Rolfs, Peter Bauer and Christian Beetz
    Citation: Orphanet Journal of Rare Diseases 2022 17:179
  22. Cushing’s syndrome (CS) is associated with an hypercoagulable state and an increased risk of venous thromboembolism (VTE). Evidence-based guidelines on thromboprophylaxis strategies in patients with CS are cur...

    Authors: F. M. van Haalen, M. Kaya, I. C. M. Pelsma, O. M. Dekkers, N. R. Biermasz, S. C. Cannegieter, M. V. Huisman, B. J. M. van Vlijmen, R. A. Feelders, F. A. Klok and A. M. Pereira
    Citation: Orphanet Journal of Rare Diseases 2022 17:178
  23. Pain occurs in the majority of patients with late onset Pompe disease (LOPD) and is associated with a reduced quality of life. The aim of this study was to analyse the pain characteristics and its relation to ...

    Authors: Elena K. Enax-Krumova, Iris Dahlhaus, Jonas Görlach, Kristl G. Claeys, Federica Montagnese, llka Schneider, Dietrich Sturm, Tanja Fangerau, Hannah Schlierbach, Angela Roth, Julia V. Wanschitz, Wolfgang N. Löscher, Anne-Katrin Güttsches, Stefan Vielhaber, Rebecca Hasseli, Lea Zunk…
    Citation: Orphanet Journal of Rare Diseases 2022 17:177
  24. Birt-Hogg-Dubé syndrome (BHDS) is a rare monogenic condition mostly associated with germline mutations at FLCN. It is characterized by either one or more manifestations of primary spontaneous pneumothorax (PSP), ...

    Authors: Anindita Ray, Esita Chattopadhyay, Richa Singh, Saurabh Ghosh, Arnab Bera, Mridul Sarma, Mahavir Munot, Unnati Desai, Sujeet Rajan, Pralhad Prabhudesai, Ashish K. Prakash, Sushmita Roy Chowdhury, Niladri Bhowmick, Raja Dhar, Zarir F. Udwadia, Atin Dey…
    Citation: Orphanet Journal of Rare Diseases 2022 17:176
  25. Non-syndromic rod-cone dystrophy (RCD) is the most common condition in inherited retinal diseases. The aim of this study was to evaluate the research output and productivity related to RCD genetics per countri...

    Authors: Lama Jaffal, Zamzam Mrad, Mariam Ibrahim, Ali Salami, Isabelle Audo, Christina Zeitz and Said El Shamieh
    Citation: Orphanet Journal of Rare Diseases 2022 17:175
  26. Stuve-Wiedemann syndrome (SWS) is a rare and severe genetic disease characterized by skeletal anomalies and dysautonomic disturbances requiring appropriate care. Peer support is mandatory to fill the lack of c...

    Authors: Hélène Warnier, Christophe Barrea, Sarah Bethlen, Isabelle Schrouff and Julie Harvengt
    Citation: Orphanet Journal of Rare Diseases 2022 17:174
  27. Clinical outcome assessments are important tools for measuring the natural history of disease and efficacy of an intervention. The heterogenous phenotype and difficult to quantity features of Proteus syndrome ...

    Authors: Christopher A. Ours, Mia B. Hodges, Neal Oden, Julie C. Sapp and Leslie G. Biesecker
    Citation: Orphanet Journal of Rare Diseases 2022 17:173
  28. Kohlmeier-Degos (K-D) disease is a rare obliterative vasculopathy that can present as a benign cutaneous form or with potentially malignant systemic involvement. The gastrointestinal tract is most frequently i...

    Authors: Samantha S. Sattler, Cynthia M. Magro, Lee Shapiro, Jamie F. Merves, Rebecca Levy, Jesse Veenstra and Puraj Patel
    Citation: Orphanet Journal of Rare Diseases 2022 17:172
  29. Improving care coordination is particularly important for individuals with rare conditions (who may experience multiple inputs into their care, across different providers and settings). To develop and evaluate...

    Authors: Holly Walton, Amy Simpson, Angus I. G. Ramsay, Emma Hudson, Amy Hunter, Jennifer Jones, Pei Li Ng, Kerry Leeson-Beevers, Lara Bloom, Joe Kai, Larissa Kerecuk, Maria Kokocinska, Alastair G. Sutcliffe, Stephen Morris and Naomi J. Fulop
    Citation: Orphanet Journal of Rare Diseases 2022 17:171
  30. Dunnigan syndrome, or Familial Partial Lipodystrophy type 2 (FPLD2; ORPHA 2348), is a rare autosomal dominant disorder due to pathogenic variants of the LMNA gene. The objective of the French National Diagnosis a...

    Authors: H. Mosbah, B. Donadille, C. Vatier, S. Janmaat, M. Atlan, C. Badens, P. Barat, S. Béliard, J. Beltrand, R. Ben Yaou, E. Bismuth, F. Boccara, B. Cariou, M. Chaouat, G. Charriot, S. Christin-Maitre…
    Citation: Orphanet Journal of Rare Diseases 2022 17(Suppl 1):170

    This article is part of a Supplement: Volume 17 Supplement 1

  31. Authors: Paolo Cavarzere, Andrea Gastaldi, Francesca Marta Elli, Rossella Gaudino, Erika Peverelli, Milena Brugnara, Susanne Thiele, Francesca Granata, Giovanna Mantovani and Franco Antoniazzi
    Citation: Orphanet Journal of Rare Diseases 2022 17:169

    The original article was published in Orphanet Journal of Rare Diseases 2022 17:83

  32. Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare, disabling genetic disorder characterized by congenital malformations of the great toes and progressive heterotopic ossification of soft and connect...

    Authors: Robert J. Pignolo, Christopher Bedford-Gay, Amanda Cali, Michelle Davis, Patricia L. R. Delai, Kristi Gonzales, Candace Hixson, Alastair Kent, Hope Newport, Manuel Robert, Christiaan Scott and Frederick S. Kaplan
    Citation: Orphanet Journal of Rare Diseases 2022 17:168
  33. The patient voice is becoming increasingly prominent across all stages of therapeutic innovation. It pervades research domains from funding and recruitment, to translation, care, and support. Advances in genom...

    Authors: Christina Q. Nguyen, Kristine Alba-Concepcion, Elizabeth E. Palmer, Jackie L. Scully, Nicole Millis and Michelle A. Farrar
    Citation: Orphanet Journal of Rare Diseases 2022 17:167
  34. Several common conditions have been widely recognised as risk factors for COVID-19 related death, but risks borne by people with rare diseases are largely unknown. Therefore, we aim to estimate the difference ...

    Authors: Huayu Zhang, Johan H. Thygesen, Ting Shi, Georgios V. Gkoutos, Harry Hemingway, Bruce Guthrie and Honghan Wu
    Citation: Orphanet Journal of Rare Diseases 2022 17:166
  35. 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
  36. To investigate the clinical features of multicentric reticulohistiocytosis (MRH).

    Authors: Xiao-juan Zou, Lin Qiao, Feng Li, Hua Chen, Yun-jiao Yang, Dong Xu, Wen-Jie Zheng, Zhen-yu Jiang, Li Wang, Qing-jun Wu and Feng-Chun Zhang
    Citation: Orphanet Journal of Rare Diseases 2022 17:164
  37. 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
  38. Rare diseases (RDs) are often complex, serious, chronic and multi-systemic conditions, associated with physical, sensory and intellectual disability. Patients require follow-up management from multiple medical...

    Authors: A. J. Ward, D. Murphy, R. Marron, V. McGrath, M. Bolz-Johnson, W. Cullen, A. Daly, O. Hardiman, A. Lawlor, S. A. Lynch, M. MacLachlan, J. McBrien, S. Ni Bhriain, J. J. O’Byrne, S. M. O’Connell, J. Turner…
    Citation: Orphanet Journal of Rare Diseases 2022 17:162
  39. Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening disorder. How to stratify high risk patients is one of the current challenges for the treatment of HLH. HLH patients usually fulfill multiple but ...

    Authors: Xun Li, Haipeng Yan, Ting Luo, Zhenghui Xiao, Ling Gong, Jiaotian Huang, Xinping Zhang, Mincui Zheng, Zhenya Yao, Ping Zang, Desheng Zhu and Xiulan Lu
    Citation: Orphanet Journal of Rare Diseases 2022 17:161
  40. Acute hepatic porphyrias (AHPs) are a family of four rare genetic diseases resulting from a deficiency in one of the enzymes involved in heme biosynthesis. AHP patients can experience potentially life-threaten...

    Authors: Matteo Marcacci, Andrea Ricci, Chiara Cuoghi, Stefano Marchini, Antonello Pietrangelo and Paolo Ventura
    Citation: Orphanet Journal of Rare Diseases 2022 17:160
  41. Deep learning methods have great potential to predict tumor characterization, such as histological diagnosis and genetic aberration. The objective of this study was to evaluate and validate the predictive perf...

    Authors: Yuhan Yang, Yin Zhou, Chen Zhou and Xuelei Ma
    Citation: Orphanet Journal of Rare Diseases 2022 17:158
  42. Conventional cost-effectiveness analysis—i.e., assessing pharmaceuticals through a cost per quality-adjusted life year (QALY) framework—originated from a societal commitment to maximize population health given...

    Authors: Maarten J. Postma, Declan Noone, Mark H. Rozenbaum, John A. Carter, Marc F. Botteman, Elisabeth Fenwick and Louis P. Garrison
    Citation: Orphanet Journal of Rare Diseases 2022 17:157
  43. 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
  44. Gorham–Stout syndrome (GSS) is a rare disorder with various presentations and unpredictable prognoses. Previous understandings of GSS mainly focused on progressive bone destruction, while we identified a group...

    Authors: Hong Di, Bingqing Zhang, Na Xu, Yue Yin, Xinxin Han, Yun Zhang and Xuejun Zeng
    Citation: Orphanet Journal of Rare Diseases 2022 17:152
  45. Haemophilia bears substantial humanistic and economic burden on children and their caregivers. Characterising the differential impact of severe versus moderate paediatric haemophilia is important for clinical ...

    Authors: Idaira Rodriguez-Santana, Pronabesh DasMahapatra, Tom Burke, Zalmai Hakimi, José Bartelt-Hofer, Jameel Nazir and Jamie O’Hara
    Citation: Orphanet Journal of Rare Diseases 2022 17:150
  46. Homozygous or compound heterozygous variants in the KLHL40 gene cause nemaline myopathy 8 (NEM8), a severe autosomal recessive muscle disorder characterized by prenatal polyhydramnios, fetal akinesia or hypokines...

    Authors: Haiming Yuan, Qingming Wang, Xiumei Zeng, Peiqing He, Wanfang Xu, Hongmei Guo, Yanhui Liu and Yangyang Lin
    Citation: Orphanet Journal of Rare Diseases 2022 17:149