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  1. Real-world evidence (RWE) generated using real-world data (RWD) presents the potential to contextualize and/or supplement traditional clinical trials for regulatory approval of rare diseases (RDs). This system...

    Authors: Shailja Vaghela, Kaniz Afroz Tanni, Geetanjoli Banerjee and Vanja Sikirica
    Citation: Orphanet Journal of Rare Diseases 2024 19:117
  2. Very little is known about the characteristics of echocardiographic abnormalities and joint hypermobility in Chinese patients with osteogenesis imperfecta (OI). The aim of our study was to investigate the char...

    Authors: Yazhao Mei, Yunyi Jiang, Li Shen, Zheying Meng, Zhenlin Zhang and Hao Zhang
    Citation: Orphanet Journal of Rare Diseases 2024 19:116
  3. Interventions for social difficulties have not been investigated in the neurofibromatosis type 1 (NF1) population despite observations of elevated rates of social difficulties. In this pilot study, the effecti...

    Authors: Danielle M. Glad, Sara K. Pardej, Ellen Olszewski and Bonita P. Klein-Tasman
    Citation: Orphanet Journal of Rare Diseases 2024 19:115
  4. In this study we aimed to describe the morphological and pathogenetic differences between tracheal agenesis and tracheal atresia, which are not clearly distinguished from each other in the literature, and to c...

    Authors: Mateja Pfeifer, Helga Rehder, Maria Gerykova Bujalkova, Christine Bartsch, Barbara Fritz, Cordula Knopp, Björn Beckers, Frank Dohle, Matthias Meyer-Wittkopf, Roland Axt-Fliedner, Alexander V. Beribisky, Manuel Hofer, Franco Laccone and Katharina Schoner
    Citation: Orphanet Journal of Rare Diseases 2024 19:114
  5. Congenital myasthenic syndrome (CMS) is a group of neuromuscular disorders caused by abnormal signal transmission at the motor endplate. Mutations in the collagen-like tail subunit gene (COLQ) of acetylcholineste...

    Authors: Omid Hesami, Mahtab Ramezani, Aida Ghasemi, Farzad Fatehi, Ali Asghar Okhovat, Bentolhoda Ziaadini, Ariana Kariminejad and Shahriar Nafissi
    Citation: Orphanet Journal of Rare Diseases 2024 19:113
  6. Many different clinical specialists provide care to patients with Turner syndrome (TS), who have highly variable clinical manifestations. Therefore, a national TS registry is essential to inform a cohesive app...

    Authors: Sara Mansoorshahi, Cindy Scurlock, Scientific Advisory Board of the Turner Syndrome Society of the United States Research Registry and Siddharth K Prakash
    Citation: Orphanet Journal of Rare Diseases 2024 19:112
  7. Cornelia de Lange (CdLS) is a rare genetic disorder that affects most body systems. Variants in multiple genes including NIPBL and SMC1A, can cause the syndrome. To date, literature on genotype–phenotype associat...

    Authors: Rowena Ng, Julia O’Connor, Deirdre Summa and Antonie D. Kline
    Citation: Orphanet Journal of Rare Diseases 2024 19:111
  8. Approximately two-thirds of patients with mucopolysaccharidosis II (MPS II) have a severe, neuronopathic phenotype, characterized by somatic, cognitive, and behavioral issues. Current standard of care for the ...

    Authors: Karen S. Yee, Sandy Lewis, Emily Evans, Carla Romano and David Alexanderian
    Citation: Orphanet Journal of Rare Diseases 2024 19:110
  9. Hypophosphatasia (HPP) is a rare inherited disease caused by deficient activity of tissue-nonspecific alkaline phosphatase. Many adults with HPP have a high burden of disease, experiencing chronic pain, fatigu...

    Authors: Priya S. Kishnani, Gabriel Ángel Martos-Moreno, Agnès Linglart, Anna Petryk, Andrew Messali, Shona Fang, Cheryl Rockman-Greenberg, Keiichi Ozono, Wolfgang Högler, Lothar Seefried and Kathryn M. Dahir
    Citation: Orphanet Journal of Rare Diseases 2024 19:109
  10. Osteogenesis imperfecta (OI) affects dental and craniofacial development; therefore, it can influence oral health-related quality of life (OHRQoL). The objective of this study was to explore the influence of t...

    Authors: Amira Ahmed Elfituri, Manuel Joaquín De Nova and Mohammadamin Najirad
    Citation: Orphanet Journal of Rare Diseases 2024 19:108

    The Correction to this article has been published in Orphanet Journal of Rare Diseases 2024 19:166

  11. Pallister-Killian syndrome (PKS) is a rare genetic disorder caused by mosaic tetrasomy of 12p with wide neurological involvement. Intellectual disability, developmental delay, behavioral problems, epilepsy, sl...

    Authors: Anna Fetta, Francesco Toni, Ilaria Pettenuzzo, Emilia Ricci, Alessandro Rocca, Caterina Gambi, Luca Soliani, Veronica Di Pisa, Silvia Martini, Giacomo Sperti, Valeria Cagnazzo, Patrizia Accorsi, Emanuele Bartolini, Domenica Battaglia, Pia Bernardo, Maria Paola Canevini…
    Citation: Orphanet Journal of Rare Diseases 2024 19:107
  12. Tuberous sclerosis complex (TSC) is a rare inherited disease with the potential to affect virtually every organ system. Clinical presentation is age- and partly sex-dependent and varies broadly with respect to...

    Authors: Matthias Sauter, Lea Weber, Dominik Jung, Michael Weremko, Dorothea Bachmann, Michael Fischereder and Hagen Sjard Bachmann
    Citation: Orphanet Journal of Rare Diseases 2024 19:106
  13. This study aimed to assess medication adherence and demographic, clinical, and psychopathological parameters such as quality of life, depression, and anxiety levels that can affect pediatrics with Wilson’s Dis...

    Authors: Mehmet Akif Göktaş and Nadir Yalcin
    Citation: Orphanet Journal of Rare Diseases 2024 19:105
  14. Mucopolysaccharidosis type II (MPS II), or Hunter syndrome, is a rare X-linked metabolic disorder predominantly affecting males. Pabinafusp alfa, an iduronate-2-sulfatase enzyme designed to cross the blood-bra...

    Authors: Kimitoshi Nakamura, Norio Sakai, Mohammad Arif Hossain, Julie B Eisengart, Tatsuyoshi Yamamoto, Kazunori Tanizawa, Sairei So, Mathias Schmidt and Yuji Sato
    Citation: Orphanet Journal of Rare Diseases 2024 19:104
  15. As the most common subtype of adult muscular dystrophy worldwide, large cohort reports on myotonic dystrophy type I (DM1) in China are still lacking. This study aims to analyze the genetic and clinical charact...

    Authors: Huahua Zhong, Li Zeng, Xuefan Yu, Qing Ke, Jihong Dong, Yan Chen, Lijun Luo, Xueli Chang, Junhong Guo, Yiqi Wang, Hui Xiong, Rongrong Liu, Changxia Liu, Jibao Wu, Jie Lin, Jianying Xi…
    Citation: Orphanet Journal of Rare Diseases 2024 19:103
  16. Recently, the safety and efficacy of gene therapy were evaluated in patients with Crigler-Najjar syndrome (CNS). Although it is a promising curative option for CNS, many doubts still persist about its long-ter...

    Authors: Fabiola Di Dato, Giuseppe D’Uonno and Raffaele Iorio
    Citation: Orphanet Journal of Rare Diseases 2024 19:102
  17. Congenital stationary night blindness (CSNB) is an inherited retinal disorder. Most of patients have myopia. This study aims to describe the clinical and genetic characteristics of fifty-nine patients with CSN...

    Authors: Lijuan Huang, Xueqing Bai, Yan Xie, Yunyu Zhou, Jin Wu and Ningdong Li
    Citation: Orphanet Journal of Rare Diseases 2024 19:101
  18. Poor fetal and perinatal outcomes in fetuses associated with umbilical artery thrombosis (UAT), such as severe intrauterine growth restriction (IUGR) and intrauterine asphyxia have been reported by some case s...

    Authors: Peng Tu, Xiaohang Zhang, Chunyan Zhong, Qian Ran and Suzhen Ran
    Citation: Orphanet Journal of Rare Diseases 2024 19:100
  19. Most genetic skeletal disorders (GSD) were complex, disabling and life-threatening without effective diagnostic and treatment methods. However, its impacts on health system have not been well studied. The stud...

    Authors: Luna Liu, Yingzhou Shi, Xiude Fan, Yangyang Yao, Wanhong Wu, Yang Tian, Huixiao Wu, Zongyue Li, Yanzhou Wang and Chao Xu
    Citation: Orphanet Journal of Rare Diseases 2024 19:99
  20. Patients and family caregivers living with Congenital Disorders of Glycosylation (CDG) experience a heavy burden, which can impact their resiliency and quality of life. The study’s purpose was to measure the r...

    Authors: Joana Poejo, Ana Isabel Gomes, Pedro Granjo and Vanessa dos Reis Ferreira
    Citation: Orphanet Journal of Rare Diseases 2024 19:98
  21. Although peripheral vestibular disorder is a non-fatal complication of Fabry disease, fatalities have been reported in some case reports and case series. To date, no studies have examined the relative risk of ...

    Authors: Tzong-Hann Yang, Sudha Xirasagar, Yen-Fu Cheng, Chin-Shyan Chen and Herng-Ching Lin
    Citation: Orphanet Journal of Rare Diseases 2024 19:97
  22. The conduct of rare disease clinical trials is still hampered by methodological problems. The number of patients suffering from a rare condition is variable, but may be very small and unfortunately statistical...

    Authors: Stefanie Schoenen, Johan Verbeeck, Lukas Koletzko, Isabella Brambilla, Mathieu Kuchenbuch, Maya Dirani, Georg Zimmermann, Holger Dette, Ralf-Dieter Hilgers, Geert Molenberghs and Rima Nabbout
    Citation: Orphanet Journal of Rare Diseases 2024 19:96
  23. Osteogenesis Imperfecta (OI) is a heterogeneous group of connective tissue disorders, characterized by varying degrees of skeletal fragility. Patients experience a range of comorbidities, such as obesity, card...

    Authors: Ramona De Amicis, Simona Bertoli, Amalia Bruno, Giulia De Carlo, Alberto Battezzati, Andrea Foppiani, Alessandro Leone and Antonella Lo Mauro
    Citation: Orphanet Journal of Rare Diseases 2024 19:94
  24. While health care and societal costs are routinely modelled for most diseases, there is a paucity of comprehensive data and cost-of-illness (COI) studies for inherited retinal diseases (IRDs). This lack of dat...

    Authors: Qin Xiang Ng, Clarence Ong, Clyve Yu Leon Yaow, Hwei Wuen Chan, Julian Thumboo, Yi Wang and Gerald Choon Huat Koh
    Citation: Orphanet Journal of Rare Diseases 2024 19:93
  25. Congenital disorders of the mitochondrial respiratory chain are a heterogeneous group of inborn errors of metabolism. Among them, NADH:ubiquinone oxidoreductase (complex I, CI) deficiency is the most common. B...

    Authors: Firas Abu Hanna, Yoav Zehavi, Eran Cohen-Barak, Morad Khayat, Nasim Warwar, Roni Shreter, Richard J. Rodenburg and Ronen Spiegel
    Citation: Orphanet Journal of Rare Diseases 2024 19:92
  26. Over the last twenty years of orphan drug regulation in Europe, the regulatory framework has increased its complexity, with different regulatory paths and tools engineered to facilitate the innovation and acce...

    Authors: Luísa Bouwman, Bruno Sepodes, Hubert Leufkens and Carla Torre
    Citation: Orphanet Journal of Rare Diseases 2024 19:91
  27. Familial Mediterranean Fever (FMF) is an autosomal recessive autoinflammatory disease caused by mutations in the MEFV (MEditerranean FeVer) gene that affects people originating from the Mediterranean Sea. The hig...

    Authors: Ahlam Chaaban, Zeina Salman, Louna Karam, Philippe Hussein Kobeissy and José-Noel Ibrahim
    Citation: Orphanet Journal of Rare Diseases 2024 19:90
  28. Rett syndrome (RTT) and tuberous sclerosis complex (TSC) are two rare disorders presenting with a range of different epileptic seizures. Seizure management requires careful therapy selection, thereby necessita...

    Authors: S. Amin, B. Ruban-Fell, I. Newell, J. Evans, K. Vyas, C. Nortvedt and R. F. Chin
    Citation: Orphanet Journal of Rare Diseases 2024 19:89
  29. Rare diseases present immense challenges to physicians, patients, and the healthcare system at large due to a scarcity of research and knowledge in the field. This contributes to uncertainty surrounding rare d...

    Authors: Leisha Devisetti
    Citation: Orphanet Journal of Rare Diseases 2024 19:37
  30. Metformin has been reported to inhibit the occurrence and development of colorectal cancer (CRC) by mediating changes in intestinal flora. Studies have also indicated that the occurence of familial adenomatous...

    Authors: Linxin Zhou, Linfu Zheng, Binbin Xu, Zhou Ye, Dazhou Li and Wen Wang
    Citation: Orphanet Journal of Rare Diseases 2024 19:88
  31. Metachromatic Leukodystrophy (MLD) is a rare, autosomal recessive lysosomal storage disease characterised by the progressive loss of motor function and severe decline in cognitive function. Limited information...

    Authors: Sophie Thomas, Alexandra Morrison, Georgina Morton, Pat Roberts, Vivienne Clark and Jackie Imrie
    Citation: Orphanet Journal of Rare Diseases 2024 19:87
  32. The Rare Pediatric Disease (RPD) Priority Review Voucher (PRV) Program was enacted in 2012 to support the development of new products for children. Prior to requesting a voucher, applicants can request RPD des...

    Authors: Catherine Mease, Kathleen L. Miller, Lewis J. Fermaglich, Jeanine Best, Gumei Liu and Erika Torjusen
    Citation: Orphanet Journal of Rare Diseases 2024 19:86

    The Correction to this article has been published in Orphanet Journal of Rare Diseases 2024 19:131

  33. Neurofibromatosis type 1 (NF1) is one of the most common RASopathies predisposing affected patients to melanic lesions and benign tumors. NF1 is associated with considerable esthetic and functional burden nega...

    Authors: Ana M. Cieza Rivera, Carlos Lobato Fuertes, Tania Fernández-Villa, Vicente Martín Sánchez and Isis Atallah
    Citation: Orphanet Journal of Rare Diseases 2024 19:85
  34. The determinants of early-onset obesity (< 6 years) are not completely elucidated, however eating behavior has a central role. To date no study has explored eating behavior in children with severe, early-onset...

    Authors: Lara Arnouk, Hélène Chantereau, Sophie Courbage, Patrick Tounian, Karine Clément, Christine Poitou and Béatrice Dubern
    Citation: Orphanet Journal of Rare Diseases 2024 19:84
  35. Prader-Willi syndrome (PWS) is a rare, neurodevelopmental disorder caused by the lack of expression of paternally imprinted genes on chromosome 15q11-13. PWS features a complex behavioral phenotype, including ...

    Authors: Elisabeth M. Dykens, Elizabeth Roof and Hailee Hunt-Hawkins
    Citation: Orphanet Journal of Rare Diseases 2024 19:83
  36. Alpha 1 Antitrypsin Deficiency (AATD) is a largely underrecognized genetic condition characterized by low Alpha 1 Antitrypsin (AAT) serum levels, resulting from variations in SERPINA1. Many individuals affected b...

    Authors: Ilaria Ferrarotti, Marion Wencker and Joanna Chorostowska-Wynimko
    Citation: Orphanet Journal of Rare Diseases 2024 19:82
  37. One of the most relevant challenges for healthcare providers during the COVID– 19 pandemic has been assuring the continuity of care to patients with complex health needs such as people living with rare disease...

    Authors: Sara Cannizzo, Vinciane Quoidbach, Paola Giunti, Wolfgang Oertel, Gregory Pastores, Maja Relja and Giuseppe Turchetti
    Citation: Orphanet Journal of Rare Diseases 2024 19:81
  38. Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disease caused by deficiency in arylsulfatase A (ASA) activity arising primarily from ASA gene (ARSA) variants. Late-infantile, juven...

    Authors: Shun-Chiao Chang, Aurore Bergamasco, Mélanie Bonnin, Teigna Arredondo Bisonó and Yola Moride
    Citation: Orphanet Journal of Rare Diseases 2024 19:80
  39. TBL1XR1 encodes a F-box-like/WD40 repeat-containing protein that plays a role in transcription mediated by nuclear receptors and is a known genetic cause of neurodevelopmental disease of childhood (OMIM# 608628)....

    Authors: Amanda Nagy, Francine Molay, Sarah Hargadon, Claudia Brito Pires, Natalie Grant, Lizbeth De La Rosa Abreu, Jin Yun Chen, Precilla D’Souza, Ellen Macnamara, Cynthia Tifft, Catherine Becker, Claudio Melo De Gusmao, Vikram Khurana, Ann M. Neumeyer and Florian S. Eichler
    Citation: Orphanet Journal of Rare Diseases 2024 19:79
  40. The present study aimed to determine the problems, unmet needs and expectations of phenylketonuria (PKU) patients in Türkiye regarding follow-up and treatment in order to provide data for future planning and i...

    Authors: Merve Esgi, Hakan Ergun, Nazmi Yalcin Kaya, Deniz Yilmaz Atakay, Ege Erucar and Fatma Celik
    Citation: Orphanet Journal of Rare Diseases 2024 19:78
  41. Although individually rare, collectively, rare conditions are common and affect a large number of people and are often chronic, life threatening and affect multiple body systems; the majority of them have no e...

    Authors: Jennifer Jones, Marie Cruddas, Amy Simpson, Nick Meade, Daphnee Pushparajah, Michelle Peter and Amy Hunter
    Citation: Orphanet Journal of Rare Diseases 2024 19:77
  42. Fanconi-Bickel syndrome (FBS) is a rare autosomal recessive disorder characterized by impaired glucose and galactose utilization as well as proximal renal tubular dysfunction.

    Authors: Taozi Du, Yu Xia, Chengkai Sun, Zhuwen Gong, Lili Liang, Zizhen Gong, Ruifang Wang, Deyun Lu, Kaichuang Zhang, Yi Yang, Yuning Sun, Manqing Sun, Yu Sun, Bing Xiao and Wenjuan Qiu
    Citation: Orphanet Journal of Rare Diseases 2024 19:75
  43. To date, real-world evidence around the clinical and economic burden related to von Hippel-Lindau (VHL) disease is limited. Therefore, this study characterized the prevalence, healthcare resource utilization (...

    Authors: Eric Jonasch, Yan Song, Jonathan Freimark, Richard Berman, Ha Nguyen, James Signorovitch and Murali Sundaram
    Citation: Orphanet Journal of Rare Diseases 2024 19:73
  44. Late-onset multiple acyl-CoA dehydrogenase deficiency (MADD) is the most common lipid storage myopathy. There are sex differences in fat metabolism and it is not known whether late-onset MADD affects men and w...

    Authors: Jing Ma, Huiqiu Zhang, Feng Liang, Guanxi Li, Xiaomin Pang, Rongjuan Zhao, Juan Wang, Xueli Chang, Junhong Guo and Wei Zhang
    Citation: Orphanet Journal of Rare Diseases 2024 19:72
  45. Gaucher disease (GD) is a rare autosomal recessive condition associated with clinical features such as splenomegaly, hepatomegaly, anemia, thrombocytopenia, and bone abnormalities. Three clinical forms of GD h...

    Authors: Shoshana Revel-Vilk, Varda Shalev, Aidan Gill, Ora Paltiel, Orly Manor, Avraham Tenenbaum, Liat Azani and Gabriel Chodick
    Citation: Orphanet Journal of Rare Diseases 2024 19:71
  46. Parents of individuals with rare neurodevelopmental conditions and intellectual disabilities (ID) are vulnerable to mental health difficulties, which vary between parents and within parents over time. The unde...

    Authors: Zhaotian Chi, Rory T. Devine, Jeanne Wolstencroft, David Skuse, Claire Hughes and Kate Baker
    Citation: Orphanet Journal of Rare Diseases 2024 19:70
  47. Prader–Willi syndrome (PWS) is a rare and complex neurodevelopmental disorder resulting from absent paternal expression of maternally imprinted genes at chromosomal locus 15q11-13. This absence of expression o...

    Authors: Lucie C. S. Aman, Suzannah D. Lester, Anthony J. Holland and Paul C. Fletcher
    Citation: Orphanet Journal of Rare Diseases 2024 19:69