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  1. Metachromatic leukodystrophy (MLD), a relentlessly progressive and ultimately fatal condition, is a rare autosomal recessive lysosomal storage disorder caused by a deficiency of the enzyme arylsulfatase A (ARS...

    Authors: F. Eichler, Caroline Sevin, M. Barth, F. Pang, K. Howie, M. Walz, A. Wilds, C. Calcagni, C. Chanson and L. Campbell
    Citation: Orphanet Journal of Rare Diseases 2022 17:370
  2. Autosomal recessive cerebellar ataxias (ARCA) are a group of rare inherited disorders characterized by degeneration or abnormal development of the cerebellum. Autosomal recessive spastic ataxia of Charlevoix–S...

    Authors: Marjolaine Tremblay, Laura Girard-Côté, Bernard Brais and Cynthia Gagnon
    Citation: Orphanet Journal of Rare Diseases 2022 17:369
  3. Studies regarding cognitive and mental health functioning in children with mitochondrial disease (MD) are scarce, while both are important issues given their impact on QoL. Knowledge on these aspects of functi...

    Authors: Kim F. E. van de Loo, José A. E. Custers, Lonneke de Boer, Marloes van Lieshout, Maaike C. de Vries, Mirian C. H. Janssen and Christianne M. Verhaak
    Citation: Orphanet Journal of Rare Diseases 2022 17:368
  4. Dystrophic epidermolysis bullosa (DEB) is a serious, ultra-rare, genetic blistering disease that requires a multidisciplinary care team and lifelong, proactive disease management. To organize and optimize care...

    Authors: James A. Feinstein, Anna L. Bruckner, Benjamin Chastek, Amy Anderson and Juan Roman
    Citation: Orphanet Journal of Rare Diseases 2022 17:367
  5. 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
  6. Glut1 deficiency syndrome (Glut1-DS) is a rare metabolic encephalopathy. Familial forms are poorly investigated, and no previous studies have explored aspects of Glut1-DS over the course of life: clinical pict...

    Authors: Sara Olivotto, Alessandra Duse, Stefania Maria Bova, Valeria Leonardi, Elia Biganzoli, Alberto Milanese, Cristina Cereda, Simona Bertoli, Roberto Previtali and Pierangelo Veggiotti
    Citation: Orphanet Journal of Rare Diseases 2022 17:365
  7. Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disease characterized by progressive heterotopic ossification (HO) in soft tissues due to a heterozygous mutation of the ACVR1A gene (FOP-ACVR1A), ...

    Authors: Hirotsugu Maekawa, Yonghui Jin, Megumi Nishio, Shunsuke Kawai, Sanae Nagata, Takeshi Kamakura, Hiroyuki Yoshitomi, Akira Niwa, Megumu K. Saito, Shuichi Matsuda and Junya Toguchida
    Citation: Orphanet Journal of Rare Diseases 2022 17:364
  8. Interleukin (IL)-6 is one of the key cytokines in the pathogenesis of secondary hemophagocytic lymphohistiocytosis (sHLH); however, the efficacy and safety of tocilizumab (TCZ), a monoclonal IL-6 receptor anti...

    Authors: Ju Yeon Kim, Miso Kim, Jin Kyun Park, Eun Bong Lee, Jun Won Park and Junshik Hong
    Citation: Orphanet Journal of Rare Diseases 2022 17:363
  9. Congenital hereditary endothelial dystrophy (CHED) is a rare form of corneal dystrophy caused by SLC4A11 gene variations. This study aims to find the genetic alterations in SLC4A11, in two Indian familial CHED ca...

    Authors: Mohd Salman, Anshuman Verma, Sunita Chaurasia, Deeksha Prasad, Chitra Kannabiran, Vivek Singh and Muralidhar Ramappa
    Citation: Orphanet Journal of Rare Diseases 2022 17:361
  10. Mitochondrial long-chain fatty acid oxidation and carnitine metabolism defects are a group of inherited metabolic diseases. We performed a retrospective cohort study to report on the phenotypic and genotypic s...

    Authors: Anastasia Ambrose, Melissa Sheehan, Shalini Bahl, Taryn Athey, Shailly Ghai-Jain, Alicia Chan and Saadet Mercimek-Andrews
    Citation: Orphanet Journal of Rare Diseases 2022 17:360
  11. Alström syndrome (ALMS) is a rare autosomal recessive genetic disorder that is caused by homozygous or compound heterozygous mutation in the ALMS1 gene. Dilated cardiomyopathy (DCM) is one of the well-recognized ...

    Authors: Savas Dedeoglu, Elif Dede, Funda Oztunc, Asuman Gedikbasi, Gozde Yesil and Reyhan Dedeoglu
    Citation: Orphanet Journal of Rare Diseases 2022 17:359
  12. FLNC is one of the few genes associated with all types of cardiomyopathies, but it also underlies neuromuscular phenotype. The combination of concomitant neuromuscular and cardiac involvement is not often observe...

    Authors: A. Muravyev, T. Vershinina, P. Tesner, G. Sjoberg, Yu. Fomicheva, N. Novák Čajbiková, A. Kozyreva, S. Zhuk, E. Mamaeva, S. Tarnovskaya, J. Jornholt, P. Sokolnikova, T. Pervunina, E. Vasichkina, T. Sejersen and A. Kostareva
    Citation: Orphanet Journal of Rare Diseases 2022 17:358
  13. 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
  14. Rett Syndrome (RTT) is a severe, neurodevelopmental disorder mainly caused by mutations in the MECP2 gene, affecting around 1 in 10,000 female births. Severe physical, language, and social impairments impose a...

    Authors: Rosa Angela Fabio, Liliana Chiarini and Virginia Canegallo
    Citation: Orphanet Journal of Rare Diseases 2022 17:356
  15. Facial angiofibroma is the most predominant cutaneous manifestation of tuberous sclerosis complex (TSC), a rare autosomal dominant genetic disorder impacting the mechanistic target of rapamycin (mTOR). Facial ...

    Authors: Sreedevi Boggarapu, Steven L. Roberds, JoAnne Nakagawa and Eric Beresford
    Citation: Orphanet Journal of Rare Diseases 2022 17:355
  16. Rare disease research is hampered in part by the fact that patients are geographically dispersed. Rare disease patient communities are recognized for their use of the internet to learn about their condition an...

    Authors: Andrew A. Dwyer, Melissa Uveges, Samantha Dockray and Neil Smith
    Citation: Orphanet Journal of Rare Diseases 2022 17:354
  17. Congenital gastrointestinal malformation (CGIM) require neonatal surgical treatment and may lead to disease-specific sequelae, which have a potential psychological impact on parents. The aim of this study is t...

    Authors: D. Roorda, A. F. W. van der Steeg, M. van Dijk, J. P. M. Derikx, R. R. Gorter, J. Rotteveel, J. B. van Goudoever, L. W. E. van Heurn, J. Oosterlaan and L. Haverman
    Citation: Orphanet Journal of Rare Diseases 2022 17:353
  18. There are about 7000 rare diseases worldwide, of which only 5% of the diseases can be treated with medicines, showing that it’s important to improve patient access to orphan drugs. Recently, China has actively...

    Authors: Luyao Qiao, Xin Liu, Junmei Shang, Wei Zuo, Tingting Xu, Jinghan Qu, Jiandong Jiang, Bo Zhang and Shuyang Zhang
    Citation: Orphanet Journal of Rare Diseases 2022 17:352
  19. Heterotaxy (HTX) is a rare condition of abnormal thoraco-abdominal organ arrangement across the left–right axis of the body. The pathogenesis of HTX includes a derangement of the complex signaling at the left–...

    Authors: Thomas G. Saba, Gabrielle C. Geddes, Stephanie M. Ware, David N. Schidlow, Pedro J. del Nido, Nathan S. Rubalcava, Samir K. Gadepalli, Terri Stillwell, Anne Griffiths, Laura M. Bennett Murphy, Andrew T. Barber, Margaret W. Leigh, Necia Sabin and Adam J. Shapiro
    Citation: Orphanet Journal of Rare Diseases 2022 17:351
  20. Children’s interstitial and diffuse lung disease (chILD) is a complex heterogeneous group of lung disorders. Gene panel approaches have a reported diagnostic yield of ~ 12%. No data currently exist using trio ...

    Authors: Suzanna E. L. Temple, Gladys Ho, Bruce Bennetts, Kirsten Boggs, Nada Vidic, David Mowat, John Christodoulou, André Schultz, Thet Gayagay, Tony Roscioli, Ying Zhu, Sebastian Lunke, David Armstrong, Joanne Harrison, Nitin Kapur, Tim McDonald…
    Citation: Orphanet Journal of Rare Diseases 2022 17:350
  21. Pulmonary lymphangiomyomatosis (PLAM) is a rare interstitial lung disease characterized by diffuse cystic changes caused by the destructive proliferation of smooth muscle-like cells or LAM cells. PLAM is more ...

    Authors: Yahong Shi, Chuqiao Jiao, Xi Lu, Yifeng Nie, Xiang Li and Dong Han
    Citation: Orphanet Journal of Rare Diseases 2022 17:349
  22. Fibrodysplasia ossificans progressiva (FOP) is an ultrarare condition and one of the most impactful disorders associated with progressive heterotopic ossification events. It is estimated that there are 120–150...

    Authors: Alessandro Rozim Zorzi, Patricia R. Delai, Henrique L. C. Rosa, Wander E. Brito, Victor A. M. Montalli, Juliana C. Napimoga, Marcelo H. Napimoga and Francisco H. Nociti Jr.
    Citation: Orphanet Journal of Rare Diseases 2022 17:348
  23. Behçet’s disease is a rare, chronic, incurable, multisystemic disease. It causes significant morbidity, with patients experiencing symptoms including mucous membrane ulcers, and joint pain and swelling. It is ...

    Authors: Annie Ashman, David Tucker, Ceri Williams and Llion Davies
    Citation: Orphanet Journal of Rare Diseases 2022 17:347
  24. Dystrophic epidermolysis bullosa (EB) is a family of rare genetic dermatological conditions. Recent evidence indicated that in addition to its detrimental implications on patient health-related quality of life...

    Authors: A. Angelis, J. E. Mellerio and P. Kanavos
    Citation: Orphanet Journal of Rare Diseases 2022 17:346
  25. Novel developmental mutations associated with disease are a continuous challenge in medicine. Clinical consequences caused by these mutations include neuron and cognitive alterations that can lead to epilepsy ...

    Authors: Jesús Galán-Vidal, Paula G. Socuéllamos, María Baena-Nuevo, Lizbeth Contreras, Teresa González, María S. Pérez-Poyato, Carmen Valenzuela, Domingo González-Lamuño and Alberto Gandarillas
    Citation: Orphanet Journal of Rare Diseases 2022 17:345
  26. 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
  27. 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
  28. Niemann–Pick disease type C1 (NPC1) is a rare autosomal recessive disease characterized by endolysosomal accumulation of unesterified cholesterol with progressive deterioration in swallowing, often leading to ...

    Authors: Beth I. Solomon, Andrea M. Muñoz, Ninet Sinaii, Nicole M. Farhat, Andrew C. Smith, Simona Bianconi, An Dang Do, Michael C. Backman, Leonza Machielse and Forbes D. Porter
    Citation: Orphanet Journal of Rare Diseases 2022 17:342
  29. 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
  30. Enoyl-CoA hydratase short-chain 1 (ECHS1) is a key mitochondrial enzyme that is involved in valine catabolism and fatty acid beta-oxidation. Mutations in the ECHS1 gene lead to enzymatic deficiency, resulting in ...

    Authors: Silvia Pata, Katherine Flores-Rojas, Angel Gil, Eduardo López-Laso, Laura Marti-Sánchez, Heydi Baide-Mairena, Belén Pérez-Dueñas and Mercedes Gil-Campos
    Citation: Orphanet Journal of Rare Diseases 2022 17:340
  31. Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders caused by deficient activity of enzymes responsible for the catabolism of glycosaminoglycans (GAGs), resulting in progressive damage to va...

    Authors: Agnieszka Różdżyńska-Świątkowska, Anna Zielińska and Anna Tylki-Szymańska
    Citation: Orphanet Journal of Rare Diseases 2022 17:339
  32. Fabry disease (FD) is a rare metabolic disorder, in which a lifelong enzyme replacement therapy (ERT) constitutes the cornerstone of disease-specific therapy. In this study, we examined the effects of the COVI...

    Authors: Cebrail Karaca, Mevlut Tamer Dincer, Seyda Gul Ozcan, Betul Sarac, Saffa Ahmadzada, Selma Alagoz, Alev Bakir, Ertugrul Kiykim, Sinan Trabulus and Nurhan Seyahi
    Citation: Orphanet Journal of Rare Diseases 2022 17:338
  33. Hereditary transthyretin amyloidosis (hATTR) is a progressive and fatal disease with heterogenous clinical presentations, limited diagnosis and poor prognosis. This retrospective analysis study aimed to report...

    Authors: Xinyue He, Zhuang Tian, Hongzhi Guan and Shuyang Zhang
    Citation: Orphanet Journal of Rare Diseases 2022 17:337
  34. Natural history studies are increasingly recognized as having an important role in drug development for rare diseases. A phase 3, observational, retrospective, and non-interventional study was designed to esta...

    Authors: Brittany Hornby, William Reid Thompson, Mohammed Almuqbil, Ryan Manuel, Anthony Abbruscato, Jim Carr and Hilary J. Vernon
    Citation: Orphanet Journal of Rare Diseases 2022 17:336
  35. Children with neurodegenerative conditions (CNDC) often suffer from severe neurodisability and high symptom burden with multisystemic involvement. However, their symptom burden and health-related quality of li...

    Authors: Annie Ting Gee Chiu, Sheila Suet Na Wong, Naomi Wing Tung Wong, Wilfred Hing Sang Wong, Winnie Wan Yee Tso and Cheuk Wing Fung
    Citation: Orphanet Journal of Rare Diseases 2022 17:334
  36. Against the backdrop of the European Directive on patients’ rights in cross-border healthcare, 24 European Reference Networks (ERNs) were launched in 2017. ERNs are networks of specialised hospitals working to...

    Authors: O. Spivack and L. Gaillard
    Citation: Orphanet Journal of Rare Diseases 2022 17:333
  37. Major challenges to health care access include low health insurance literacy, prohibitive costs, and insurance barriers. Niemann–Pick disease (NPD), comprising acid sphingomyelinase deficiency (ASMD) and Niema...

    Authors: George A. Diaz, Joslyn Crowe and Justin Hopkin
    Citation: Orphanet Journal of Rare Diseases 2022 17:332
  38. Galactose epimerase (GALE) deficiency is a rare hereditary disorder of galactose metabolism with only a few cases described in the literature. This study aims to present the data of patients with GALE deficien...

    Authors: Britt Derks, Didem Demirbas, Rodrigo R. Arantes, Samantha Banford, Alberto B. Burlina, Analía Cabrera, Ana Chiesa, M. Luz Couce, Carlo Dionisi-Vici, Matthias Gautschi, Stephanie Grünewald, Eva Morava, Dorothea Möslinger, Sabine Scholl-Bürgi, Anastasia Skouma, Karolina M. Stepien…
    Citation: Orphanet Journal of Rare Diseases 2022 17:331
  39. cblC deficiency is the most common type of methylmalonic aciduria in China. Late-onset patients present with various non-specific symptoms and are usually misdiagnosed. The purpose of this study is to investig...

    Authors: Zhehui Chen, Hui Dong, Yupeng Liu, Ruxuan He, Jinqing Song, Ying Jin, Mengqiu Li, Yi Liu, Xueqin Liu, Hui Yan, Jianguang Qi, Fang Wang, Huijie Xiao, Hong Zheng, Lulu Kang, Dongxiao Li…
    Citation: Orphanet Journal of Rare Diseases 2022 17:330
  40. Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal disorder caused by mutations in the arylsulfatase A gene. Until now, there has been little information on the burden of MLD on patients an...

    Authors: Caroline Sevin, Magalie Barth, Alexandra Wilds, Abena Afriyie, Markus Walz, Annamarie Dillon, Kenneth Howie and Francis Pang
    Citation: Orphanet Journal of Rare Diseases 2022 17:329
  41. Parents of children with a rare progressive life-limiting illness are at risk for parental posttraumatic stress disorder (PTSD). Studies on the treatment of parental PTSD with eye movement and desensitization ...

    Authors: T. Conijn, C. De Roos, H. J. I. Vreugdenhil, E. M. Van Dijk-Lokkart, F. A. Wijburg and L. Haverman
    Citation: Orphanet Journal of Rare Diseases 2022 17:328
  42. Acute hepatic porphyria (AHP) is a family of four rare genetic diseases, each involving deficiency in a hepatic heme biosynthetic enzyme. Resultant overproduction of the neurotoxic intermediates δ-aminolevulin...

    Authors: Bruce Wang, Paolo Ventura, Kei-ichiro Takase, Manish Thapar, David Cassiman, Ilja Kubisch, Shangbin Liu, Marianne T. Sweetser and Manisha Balwani
    Citation: Orphanet Journal of Rare Diseases 2022 17:327
  43. Hereditary fructose intolerance (HFI) caused by aldolase B reduction or deficiency that results in fructose metabolism disorder. The disease prevalence in the Chinese population is unknown, which impedes the f...

    Authors: Meiling Tang, Xiang Chen, Qi Ni, Yulan Lu, Bingbing Wu, Huijun Wang, Zhaoqing Yin, Wenhao Zhou and Xinran Dong
    Citation: Orphanet Journal of Rare Diseases 2022 17:326
  44. Split-hand/ foot malformation with long bone deficiency 3 (SHFLD3) is an extremely rare condition associated with duplications located on 17p13.3, which invariably encompasses the BHLHA9 gene. The disease inherit...

    Authors: Ewelina Bukowska-Olech, Anna Sowińska-Seidler, Jolanta Wierzba and Aleksander Jamsheer
    Citation: Orphanet Journal of Rare Diseases 2022 17:325
  45. 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
  46. Rare disease registries increase research accessibility for patients, while providing clinicians/investigators with a coherent data ecosystem necessary to boost research and patient care. The IRD-PT registry i...

    Authors: João Pedro Marques, Sara Vaz-Pereira, José Costa, Ana Marta, José Henriques and Rufino Silva
    Citation: Orphanet Journal of Rare Diseases 2022 17:323
  47. Newborn screening (NBS) applications are limited as they can only cover a few genetic diseases and may have false positive or false negative rates. A new detection program called newborn genetic screening (NBG...

    Authors: Xin Wang, Xian-Wei Guan, Yan-Yun Wang, Zhi-Lei Zhang, Ya-Hong Li, Pei-Ying Yang, Yun Sun and Tao Jiang
    Citation: Orphanet Journal of Rare Diseases 2022 17:322
  48. There is limited population-based data on Neurofibromatosis type 1 (NF1) in North America. We aimed to develop and validate algorithms using administrative health data and electronic medical records (EMRs) to ...

    Authors: Carolina Barnett, Elisa Candido, Branson Chen, Priscila Pequeno, Patricia C. Parkin and Karen Tu
    Citation: Orphanet Journal of Rare Diseases 2022 17:321
  49. Leber hereditary optic neuropathy (LHON) is an acute or subacute optic neuropathy that mainly affects young males. The first nationwide epidemiological survey of LHON was conducted in 2014 in Japan, and LHON w...

    Authors: Fumio Takano, Kaori Ueda, Daniel A. Godefrooij, Akiko Yamagami, Hiroto Ishikawa, Hideki Chuman, Hitoshi Ishikawa, Yasuhiro Ikeda, Taiji Sakamoto and Makoto Nakamura
    Citation: Orphanet Journal of Rare Diseases 2022 17:319