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  1. Research priorities are best defined through engagement with communities who will be impacted by the research and have lived experience of the topics to be studied. We aimed to establish a pediatric rare disea...

    Authors: Courtney Berrios, Macy McBeth, Andrea Bradley-Ewing, Nikolaus Schuetz, Annette Campbell, Zohreh Talebizadeh, Jeremy R. Garrett, Tamara Falicov, Francisco Martinez and Emily A. Hurley
    Citation: Orphanet Journal of Rare Diseases 2024 19:23
  2. Combined methylmalonic acidemia and homocystinuria, cblC type is an inborn error of intracellular cobalamin metabolism and the most common one. The age of onset ranges from prenatal to adult. The disease is ch...

    Authors: Loredana Arhip, Noemi Brox-Torrecilla, Inmaculada Romero, Marta Motilla, Clara Serrano-Moreno, María Miguélez and Cristina Cuerda
    Citation: Orphanet Journal of Rare Diseases 2024 19:20
  3. Oral prednisone has been recognized as the first-line therapy for the treatment of ocular myasthenia gravis (OMG). However, its long-term use is complicated by numerous adverse effects and is ineffective for s...

    Authors: Kai-Yue Zhang, Wei-Wei Duan, Yue-Bei Luo, Yi Li, Jue Hu and Huan Yang
    Citation: Orphanet Journal of Rare Diseases 2024 19:19
  4. Vascular anomalies (VAs) are rare congenital disorders that can cause pain, disfigurement, coagulopathy, asymmetric growth, and disability. Patients with complex VAs experience multiple barriers to accessing e...

    Authors: Bryan Sisk, Sunny Lin and Anna M. Kerr
    Citation: Orphanet Journal of Rare Diseases 2024 19:18
  5. Aromatic l-amino acid decarboxylase (AADC) deficiency is a rare genetic disorder of monoamine neurotransmitter synthesis that presents with a range of symptoms, including motor dysfunction and limited attainment ...

    Authors: Hui-Min Lee, Saadet Mercimek-Andrews, Gabriella Horvath, Diana Marchese, Richard E. Poulin III, Alexis Krolick, Kati-Lyn Tierney, Jasmine Turna, Judy Wei and Wuh-Liang Hwu
    Citation: Orphanet Journal of Rare Diseases 2024 19:17
  6. Fabry disease (FD) is a rare, X-linked lysosomal storage disorder affecting both males and females caused by genetic abnormalities in the gene encoding the enzyme α-galactosidase A. FD-affected patients repres...

    Authors: Michał Nowicki, Stanisława Bazan-Socha, Beata Błażejewska-Hyżorek, Mariusz M. Kłopotowski, Monika Komar, Mariusz A. Kusztal, Tomasz Liberek, Jolanta Małyszko, Katarzyna Mizia-Stec, Zofia Oko-Sarnowska, Krzysztof Pawlaczyk, Piotr Podolec and Jarosław Sławek
    Citation: Orphanet Journal of Rare Diseases 2024 19:16

    The Correction to this article has been published in Orphanet Journal of Rare Diseases 2024 19:139

  7. Multiple acyl-CoA dehydrogenase deficiency (MADD) is an autosomal recessive disorder resulting from pathogenic variants in three distinct genes, with most of the variants occurring in the electron transfer fla...

    Authors: Michelle Bisschoff, Izelle Smuts, Marli Dercksen, Maryke Schoonen, Barend C. Vorster, George van der Watt, Careni Spencer, Kireshnee Naidu, Franclo Henning, Surita Meldau, Robert McFarland, Robert W. Taylor, Krutik Patel, Mahmoud R. Fassad, Jana Vandrovcova, Ronald J. A. Wanders…
    Citation: Orphanet Journal of Rare Diseases 2024 19:15
  8. Clinical trials for rare diseases often include multiple endpoints that capture the effects of treatment on different disease domains. In many rare diseases, the primary endpoint is not standardized across tri...

    Authors: Matthias Boentert, Kenneth I. Berger, Jordi Díaz-Manera, Mazen M. Dimachkie, Alaa Hamed, Lionel Riou França, Nathan Thibault, Pragya Shukla, Jack Ishak and J. Jaime Caro
    Citation: Orphanet Journal of Rare Diseases 2024 19:14
  9. Fabry disease is a rare inherited disorder resulting from deficient α-galactosidase A enzyme activity. Common disease manifestations are sweating abnormalities, neuropathic pain, gastrointestinal symptoms and ...

    Authors: Simona D’Amore, Mark Mckie, Andrew Fahey, David Bleloch, Giuseppina Grillo, Michael Hughes and Uma Ramaswami
    Citation: Orphanet Journal of Rare Diseases 2024 19:13
  10. Hereditary fructose intolerance (HFI) is a rare metabolic disease caused by aldolase B deficiency. The aim of our study was to analyse excipient tolerability in patients with HFI and other related diseases and...

    Authors: Elsa Izquierdo-García, Andrea Lázaro-Cebas, Berta Montero Pastor, Ana Such Díaz, Elena Alba Álvaro-Alonso, Laura López Guerra and Ismael Escobar-Rodríguez
    Citation: Orphanet Journal of Rare Diseases 2024 19:12
  11. Patients with Gaucher disease (GD), a rare lysosomal storage disorder, have reduced health-related quality of life (HRQOL). A patient-reported outcome measure (PROM) for HRQOL developed for type 1 GD (GD1) is ...

    Authors: Aya Narita, Yuta Koto, Shinichi Noto, Masafumi Okada, Midori Ono, Terumi Baba, Rieko Sagara and Norio Sakai
    Citation: Orphanet Journal of Rare Diseases 2024 19:11
  12. Lipodystrophy is a rare disease characterized by loss of adipose tissue. Natural history studies have demonstrated significant burden of disease; however, there is limited data on the impact of lipodystrophy o...

    Authors: Tevfik Demir, Ilgin Yildirim Simsir, Ozlem Kuman Tuncel, Burcu Ozbaran, Ilker Yildirim, Sebnem Pirildar, Samim Ozen and Baris Akinci
    Citation: Orphanet Journal of Rare Diseases 2024 19:10
  13. Ehlers-Danlos syndrome Type IV (aka Vascular Ehlers Danlos, or vEDS) is a dominantly inherited mutation in the Collagen 3A1 gene (COL3A1). The disease is characterized by tissue friability and age-related suscept...

    Authors: Reece Foehr, Keith Anderson, Owen Dombrowski, Anna Foehr and Erik D. Foehr
    Citation: Orphanet Journal of Rare Diseases 2024 19:9
  14. To explore the application value of hyperthermic intraperitoneal chemotherapy (HIPEC) in patients with incomplete cytoreduction for appendiceal pseudomyxoma peritonei (PMP).

    Authors: Bing Wang, Ruiqing Ma, Guanjun Shi, Xiwen Fan, Benqiang Rao and Hongbin Xu
    Citation: Orphanet Journal of Rare Diseases 2024 19:8
  15. Tuberculous meningitis (TBM) is a common central nervous system infectious disease. Polymerase chain reaction (PCR) assay is a useful method for the rapid diagnosis of TBM. The Seegene Anyplex MTB/NTM real-tim...

    Authors: Verajit Chotmongkol, Seththawut Kosallavat, Kittisak Sawanyawisuth, Sittichai Khamsai, Narongrit Kasemsap, Nisa Vorasoot, Kannikar Kongbunkiat, Somsak Tiamkao and Prajuab Chaimanee
    Citation: Orphanet Journal of Rare Diseases 2024 19:7
  16. Extracorporeal shock wave therapy (ESWT) is reportedly effective for improving spasticity and motor function in children with cerebral palsy (CP). Because late-stage Rett syndrome has a similar presentation, t...

    Authors: Ting-Yu Su, Yu-chi Huang, Jih-Yang Ko, Yi-Jung Hsin, Min-Yuan Yu and Pi-Lien Hung
    Citation: Orphanet Journal of Rare Diseases 2024 19:6
  17. Patients with tuberous sclerosis complex (TSC) face an increased risk of maternal health complications and worsening disease manifestations during pregnancy. There are no established consensus guidelines that ...

    Authors: Meredith Rose, David Ritter, Nishant Gupta, Leandra Tolusso, Paul Horn, Emily Wakefield and Jennifer Glass
    Citation: Orphanet Journal of Rare Diseases 2024 19:4
  18. Ornithine Transcarbamylase Deficiency (OTCD) is an X-linked urea cycle disorder characterized by acute hyperammonemic episodes. Hemizygous males are usually affected by a severe/fatal neonatal-onset form or, l...

    Authors: Barbara Siri, Giorgia Olivieri, Francesca Romana Lepri, Martin Poms, Bianca Maria Goffredo, Anna Commone, Antonio Novelli, Johannes Häberle and Carlo Dionisi-Vici
    Citation: Orphanet Journal of Rare Diseases 2024 19:3
  19. Hereditary spastic paraplegia (HSP) is a rare neurodegenerative disease that lacks specific and validated patient-centered outcome measures (PCOMs). We aimed to develop and validate a health-related quality of...

    Authors: Jekaterina Malina, Eva-Maria Huessler, Karl-Heinz Jöckel, Eva Boog-Whiteside, Nicole Jeschonneck, Bernadette Schröder, Rebecca Schüle, Tobias Kühl and Stephan Klebe
    Citation: Orphanet Journal of Rare Diseases 2024 19:2
  20. Commonly clinically diagnosed with relapsing polychondritis (RP), vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome (VEXAS) is a recently identified autoinflammatory disease caused by UBA1 somatic...

    Authors: Suying Duan, Haiyang Luo, Yunchao Wang, Dongbin Jiang, Jiajia Liu, Jiaqi Li, Honglin Zheng, Taiqi Zhao, Chenyang Liu, Hang Zhang, Chengyuan Mao, Lei Zhang and Yuming Xu
    Citation: Orphanet Journal of Rare Diseases 2024 19:1
  21. Despite the increasing incidence of aplastic anemia in China, few studies have explored its effect on the patients’ quality of life from the perspective of these patients. In fact, patients with aplastic disor...

    Authors: Ting Liu, Yue Pan, Menghua Ye, Qiuhua Sun, Xinghong Ding and Min Xu
    Citation: Orphanet Journal of Rare Diseases 2023 18:393
  22. Multicentric Carpo-Tarsal Osteolysis Syndrome (MCTO) is an autosomal dominant disease with increased bone reabsorption in the carpus and tarsus and the elbows, knees and spine. The disease is extremely heterog...

    Authors: Anna Bruna Ronchetti, Marina Usai, Valentina Savino, Marco Scaglione, Chiara Maria Tacchino, Marta Bertamino, Paolo Moretti and Maja Di Rocco
    Citation: Orphanet Journal of Rare Diseases 2023 18:392
  23. Recommendations for statistical methods in rare disease trials are scarce, especially for cross-over designs. As a result various state-of-the-art methodologies were compared as neutrally as possible using an ...

    Authors: Martin Geroldinger, Johan Verbeeck, Andrew C. Hooker, Konstantin E. Thiel, Geert Molenberghs, Joakim Nyberg, Johann Bauer, Martin Laimer, Verena Wally, Arne C. Bathke and Georg Zimmermann
    Citation: Orphanet Journal of Rare Diseases 2023 18:391
  24. The availability of multiple treatments for type 1 Gaucher disease increases the need for real-life studies to evaluate treatment efficacy and safety and provide clinicians with more information to choose the ...

    Authors: Irene Serrano-Gonzalo, Laura López de Frutos, Carlos Lahoz-Gil, Francisco Delgado-Mateos, María Ángeles Fernández-Galán, Montserrat Morales-Conejo, María Victoria Calle-Gordo, Daiana Ibarretxe-Gerediaga, Andrés Madinaveitia-Ochoa, Antonio Albarracin-Arraigosa, José Balanzat-Muñoz, Patricia Correcher-Medina, Luis Javier García-Frade, Jesús María Hernández-Rivas, Francesca Labbadia, Jesus Miguel López-Dupla…
    Citation: Orphanet Journal of Rare Diseases 2023 18:390
  25. Cystinosis, a rare lysosomal storage disease caused by mutations in the CTNS gene, is characterized by cystine crystallization and accumulation within multiple tissues, including kidney and brain. Its impact o...

    Authors: Douwe J. Horsthuis, Sophie Molholm, John J. Foxe and Ana A. Francisco
    Citation: Orphanet Journal of Rare Diseases 2023 18:389
  26. A systematic literature review on the transition from hospital-to-home (H2H) of families with a child with medical complexity (CMC), resulted in nine overarching themes. These demonstrated common needs and exp...

    Authors: L. van de Riet, M. W. Alsem, R. S. I. Beijneveld, J. B. M. van Woensel and C. D. van Karnebeek
    Citation: Orphanet Journal of Rare Diseases 2023 18:387
  27. Advances in diagnostic and therapeutic interventions for rare diseases result in greater survival rates, with on the flipside an expanding group of children with medical complexity (CMC). When CMC leave the pr...

    Authors: L. van de Riet, M. W. Alsem, E. C. van der Leest, F. S. van Etten-Jamaludin, J. M. Maaskant, J. B. M. van Woensel and C. D. van Karnebeek
    Citation: Orphanet Journal of Rare Diseases 2023 18:386
  28. Gadolinium-enhanced cardiovascular magnetic resonance (CMR) is the most widely used approach for diagnosing myocardial fibrosis with late gadolinium enhancement (LGE) in cardiomyopathy associated with Duchenne...

    Authors: Zi-qi Zhou, Hua-yan Xu, Hang Fu, Ke Xu, Rong Xu, Xiao-tang Cai and Ying-kun Guo
    Citation: Orphanet Journal of Rare Diseases 2023 18:388
  29. Microcirculatory dysfunction is associated with increased morbidity and mortality in cardiac surgery patients. This study aimed to investigate the association between preoperative retinal microcirculation eval...

    Authors: Cong Li, Zhuoting Zhu, Haiyun Yuan, Yijun Hu, Yunlian Xue, Pingting Zhong, Manqing Huang, Yun Ren, Yu Kuang, Xiaomin Zeng, Honghua Yu and Xiaohong Yang
    Citation: Orphanet Journal of Rare Diseases 2023 18:385
  30. Acute hepatic porphyria (AHP) is a family of rare genetic diseases, including acute intermittent porphyria, variegate porphyria, hereditary coproporphyria, and delta-aminolevulinic acid dehydratase-deficient p...

    Authors: Yutaka Horie, Yuka Yasuoka and Tomohide Adachi
    Citation: Orphanet Journal of Rare Diseases 2023 18:384
  31. Oral cholic acid therapy is an effective therapy in children with primary bile acid synthesis deficiencies. Most reported patients with this treatment have 3β-hydroxy-Δ5-C27-steroid oxidoreductase deficiency. The...

    Authors: Antoine Gardin, Mathias Ruiz, Jan Beime, Mara Cananzi, Margarete Rathert, Barbara Rohmer, Enke Grabhorn, Marion Almes, Veena Logarajah, Luis Peña-Quintana, Thomas Casswall, Amaria Darmellah-Remil, Ana Reyes-Domínguez, Emna Barkaoui, Loreto Hierro, Carolina Baquero-Montoya…
    Citation: Orphanet Journal of Rare Diseases 2023 18:383
  32. Little is known about the costs of treating ataxia and whether treatment at a specialist ataxia centre affects the cost of care. The aim of this study was to investigate whether patients who attended specialis...

    Authors: Stephen Morris, Julie Vallortigara, Julie Greenfield, Barry Hunt, Deborah Hoffman, Carola Reinhard, Holm Graessner, Antonio Federico, Vinciane Quoidbach and Paola Giunti
    Citation: Orphanet Journal of Rare Diseases 2023 18:382
  33. Studies indicate that doses of alglucosidase alfa (ALGLU) higher than label dose (20 mg/kg every other week) improve clinical outcomes in infantile-onset Pompe disease (IOPD). We investigated data from the Pom...

    Authors: Priya S. Kishnani, David Kronn, Shugo Suwazono, Alexander Broomfield, Juan Llerena, Zuhair Nasser Al-Hassnan, Julie L. Batista, Kathryn M. Wilson, Magali Periquet, Nadia Daba, Andreas Hahn and Yin-Hsiu Chien
    Citation: Orphanet Journal of Rare Diseases 2023 18:381
  34. Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare but lethal cardiac ion channelopathy. Delayed diagnosis and misdiagnosis remain a matter of concern due to its rarity and insufficient rec...

    Authors: Yu Yan, Liting Tang, Xiaoqin Wang, Kaiyu Zhou, Fan Hu, Hongyu Duan, Xiaoliang Liu, Yimin Hua and Chuan Wang
    Citation: Orphanet Journal of Rare Diseases 2023 18:380
  35. Olipudase alfa is a recombinant human acid sphingomyelinase enzyme replacement therapy for non-central-nervous-system manifestations of acid sphingomyelinase deficiency (ASMD). The ASCEND randomized placebo-co...

    Authors: Melissa P. Wasserstein, Robin Lachmann, Carla Hollak, Antonio Barbato, Renata C. Gallagher, Roberto Giugliani, Norberto Bernardo Guelbert, Julia B. Hennermann, Takayuki Ikezoe, Olivier Lidove, Paulina Mabe, Eugen Mengel, Maurizio Scarpa, Ebubekir Senates, Michel Tchan, Jesus Villarrubia…
    Citation: Orphanet Journal of Rare Diseases 2023 18:378
  36. The randomised double-blinded placebo-controlled EXIST-1–3 studies have showed everolimus effective with adverse effects reported as acceptable in treatment of symptoms in patients with tuberous sclerosis comp...

    Authors: Ine Cockerell, Jakob Christensen, Christina E. Hoei-Hansen, Lotte Holst, Mikkel Grenaa Frederiksen, Aart Imran Issa-Epe, Bård Nedregaard, Ragnar Solhoff, Ketil Heimdal, Cecilie Johannessen Landmark, Caroline Lund and Terje Nærland
    Citation: Orphanet Journal of Rare Diseases 2023 18:377
  37. Improved approaches for chronic pain management are a clinical and research priority for people with haemophilia (PWH). Involving people with lived experience in the design of a complex rehabilitation interven...

    Authors: Paul McLaughlin, Michael Hurley, Pratima Chowdary, Kate Khair, Clive Smith and David Stephensen
    Citation: Orphanet Journal of Rare Diseases 2023 18:376
  38. Huntington’s disease (HD) is a progressive neurodegenerative disease, characterised by motor disturbances and non-motor (i.e., psychiatric) symptoms. Motor symptoms are the hallmark features of HD and take man...

    Authors: Reka Csehi, Viktor Molnar, Mariann Fedor, Vivien Zsumbera, Agnes Palasti, Karoly Acsai, Zoltan Grosz, Gyorgy Nemeth and Maria Judit Molnar
    Citation: Orphanet Journal of Rare Diseases 2023 18:375
  39. Nemaline myopathy (NM) and related disorders (NMr) form a heterogenous group of ultra-rare (1:50,000 live births or less) congenital muscle disorders. To elucidate the self-reported physical, psychological, an...

    Authors: Vilma-Lotta Lehtokari, Minna Similä, Marianne Tammepuu, Carina Wallgren-Pettersson, Sonja Strang-Karlsson and Sinikka Hiekkala
    Citation: Orphanet Journal of Rare Diseases 2023 18:374
  40. While substantial placebos have been used in herbal medicine (HM) clinical trials for rare diseases, the use and quality of reporting of HM-placebo remain unclear. We aim to describe the use of HM-placebo in c...

    Authors: Yixuan Li, Peipei Du, Xuebin Zhang, Chenyu Ren, Xinyi Shi, Xinglu Dong and Chi Zhang
    Citation: Orphanet Journal of Rare Diseases 2023 18:373
  41. Langerhans cell histiocytosis (LCH) is a rare highly heterogeneous histiocytosis, which can be divided into single system and multiple system disease according to site of involvement. There is a paucity of stu...

    Authors: Min Lang, Hua-cong Cai, He Lin, Long Chang, Jia-wen Dai, Jia Chen, Ming-hui Duan, Dao-bin Zhou, Gaurav Goyal and Xin-xin Cao
    Citation: Orphanet Journal of Rare Diseases 2023 18:372
  42. Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis is a rare, autosomal recessive, skeletal disorder first described in 2018. This syndrome starts with pre- and postnatal development...

    Authors: Wenyan Zhang, Ziming Yao, Ruolan Guo, Jun Cao, Wei Li, Chanjuan Hao and Xuejun Zhang
    Citation: Orphanet Journal of Rare Diseases 2023 18:371
  43. 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
  44. 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
  45. 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
  46. 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