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230 result(s) for 'AGREE II assessment' within Orphanet Journal of Rare Diseases

Page 3 of 5

  1. Orphan drug development faces numerous challenges, including low disease prevalence, patient population heterogeneity, and strong presence of paediatric patient populations. Consequently, clinical trials for o...

    Authors: Simon Day, Anneliene Hechtelt Jonker, Lilian Pek Lian Lau, Ralf-Dieter Hilgers, Ilan Irony, Kristina Larsson, Kit CB Roes and Nigel Stallard
    Citation: Orphanet Journal of Rare Diseases 2018 13:195
  2. Secondary peripheral chondrosarcomas arising in solitary osteochondromas is an unusual complication, reported in small series. In this study, we aimed to present our experience with this rare variant of chondr...

    Authors: Alberto Righi, Marina Pacheco, Stefania Cocchi, Sofia Asioli, Marco Gambarotti, Davide Maria Donati, Andrea Evangelista, Maria Gnoli, Manuela Locatelli, Marina Mordenti, Manila Boarini, Evelise Brizola, Elena Pedrini and Luca Sangiorgi
    Citation: Orphanet Journal of Rare Diseases 2022 17:74
  3. The trisomy 18 syndrome, also known as Edwards syndrome, is a common chromosomal disorder due to the presence of an extra chromosome 18, either full, mosaic trisomy, or partial trisomy 18q. The condition is th...

    Authors: Anna Cereda and John C Carey
    Citation: Orphanet Journal of Rare Diseases 2012 7:81
  4. Despite dietary intervention, individuals with early treated phenylketonuria (ETPKU) could present neurocognitive deficits and white matter (WM) abnormalities. The aim of the present study was to evaluate the ...

    Authors: María Julieta González, Mónica Rebollo Polo, Pablo Ripollés, Rosa Gassió, Aída Ormazabal, Cristina Sierra, Roser Colomé Roura, Rafael Artuch and Jaume Campistol
    Citation: Orphanet Journal of Rare Diseases 2018 13:188
  5. Raine syndrome (RS) is a rare autosomal recessive disorder caused by biallelic loss-of-function mutations of FAM20C. The most common clinical features are microcephaly, exophthalmos, hypoplastic nose and severe m...

    Authors: Chiara Mameli, Giulia Zichichi, Nasim Mahmood, Siham Chafai Elalaoui, Adnan Mirza, Poonam Dharmaraj, Marco Burrone, Elisa Cattaneo, Jayesh Sheth, Ajit Gandhi, Gurpreet Singh Kochar, Fowzan Sami Alkuraya, Madhulika Kabra, Giuseppe Mercurio and Gianvincenzo Zuccotti
    Citation: Orphanet Journal of Rare Diseases 2020 15:93
  6. Patients diagnosed with inborn errors of metabolism (IBEM) often present with compromised bone health leading to low bone density, bone pain, fractures, and short stature. Dual-energy X-ray absorptiometry (DXA...

    Authors: Karamjot Sidhu, Bilal Ali, Lauren A. Burt, Steven K. Boyd and Aneal Khan
    Citation: Orphanet Journal of Rare Diseases 2020 15:251
  7. 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
  8. The development of e-health technologies for teleconsultation and exchange of knowledge is one of the core purposes of European Reference Networks (ERNs), including the ERN EURO-NMD for rare neuromuscular dise...

    Authors: Fernanda Fortunato, Francesca Bianchi, Giulia Ricci, Francesca Torri, Francesca Gualandi, Marcella Neri, Marianna Farnè, Fabio Giannini, Alessandro Malandrini, Nila Volpi, Diego Lopergolo, Vincenzo Silani, Nicola Ticozzi, Federico Verde, Davide Pareyson, Silvia Fenu…
    Citation: Orphanet Journal of Rare Diseases 2023 18:196
  9. Congenital Disorders of Glycosylation (CDG) are a complex family of rare metabolic diseases. Robust clinical data collection faces many hurdles, preventing full CDG biological and clinical comprehension. Web-b...

    Authors: Rita Francisco, Sandra Brasil, Carlota Pascoal, Jaak Jaeken, Merell Liddle, Paula A. Videira and Vanessa dos Reis Ferreira
    Citation: Orphanet Journal of Rare Diseases 2022 17:134
  10. Life-saving orphan drugs are some of the most expensive medicines. European Union governments aim to accommodate their provision within stretched healthcare budgets but face pressure to reduce funding of such ...

    Authors: Hanna I Hyry, Jonathan CP Roos, Jeremy Manuel and Timothy M Cox
    Citation: Orphanet Journal of Rare Diseases 2013 8:135
  11. Improved knowledge of the quality of life (QoL) of locked-in syndrome (LIS) patients have implications for managing their care, and assists clinicians in choosing the most appropriate interventions. We perform...

    Authors: Marie-Christine Rousseau, Karine Baumstarck, Marine Alessandrini, Véronique Blandin, Thierry Billette de Villemeur and Pascal Auquier
    Citation: Orphanet Journal of Rare Diseases 2015 10:88
  12. Kearns-Sayre syndrome (KSS) is a mitochondrial DNA deletion syndrome that presents with profound cerebral folate deficiency and other features. Preliminary data support the notion that folinic acid therapy mig...

    Authors: Pilar Quijada-Fraile, Mar O’Callaghan, Elena Martín-Hernández, Raquel Montero, Àngels Garcia-Cazorla, Ana Martínez de Aragón, Jordi Muchart, Ignacio Málaga, Rafael Pardo, Pedro García-Gonzalez, Cristina Jou, Julio Montoya, Sonia Emperador, Eduardo Ruiz-Pesini, Joaquín Arenas, Miguel Angel Martin…
    Citation: Orphanet Journal of Rare Diseases 2014 9:217
  13. Individuals with glycogen storage disease IIIa (GSD IIIa) (OMIM #232400) experience muscle weakness and exercise limitation that worsen through adulthood. However, normative data for markers of physical capaci...

    Authors: Philip J. Hennis, Elaine Murphy, Rick I. Meijer, Robin H. Lachmann, Radha Ramachandran, Claire Bordoli, Gurinder Rayat and David J. Tomlinson
    Citation: Orphanet Journal of Rare Diseases 2022 17:28
  14. Developing orphan drugs is challenging because of their severity and the requisite for effective drugs. The small number of patients does not allow conducting adequately powered randomized controlled trials (R...

    Authors: Patrice Nony, Polina Kurbatova, Agathe Bajard, Salma Malik, Charlotte Castellan, Sylvie Chabaud, Vitaly Volpert, Nathalie Eymard, Behrouz Kassai and Catherine Cornu
    Citation: Orphanet Journal of Rare Diseases 2014 9:164
  15. Behavioral problems are an important issue for people with CHARGE syndrome. The similarity of their behavioral traits with those of people with autism raises questions. In a large national cross-sectional stud...

    Authors: Véronique Abadie, Priscilla Hamiaux, Stéphanie Ragot, Marine Legendre, Gaelle Malecot, Alexia Burtin, Tania Attie-Bitach, Stanislas Lyonnet, Frédéric Bilan, Brigitte Gilbert-Dussardier and Laurence Vaivre-Douret
    Citation: Orphanet Journal of Rare Diseases 2020 15:136
  16. An agreement, signed in 2007 by the 49 French Cystic Fibrosis Centers, included a commitment to participate, within the next 5 years, in a care quality assessment and improvement program (QIP). The objective w...

    Authors: Dominique Pougheon Bertrand, Guy Minguet, Pierre Lombrail and Gilles Rault
    Citation: Orphanet Journal of Rare Diseases 2018 13(Suppl 1):12

    This article is part of a Supplement: Volume 13 Supplement 1

  17. Orphan drugs are often approved under exceptional circumstances, requiring submission of additional data on safety and effectiveness through registries. These registries are mainly focused on one drug only and...

    Authors: Carla EM Hollak, Johannes MFG Aerts, Ségolène Aymé and Jeremy Manuel
    Citation: Orphanet Journal of Rare Diseases 2011 6:16
  18. Mucopolysaccharidosis type I (MPS I) is traditionally divided into three phenotypes: the severe Hurler (MPS I-H) phenotype, the intermediate Hurler-Scheie (MPS I-H/S) phenotype and the attenuated Scheie (MPS I...

    Authors: Minke H de Ru, Quirine GA Teunissen, Johanna H van der Lee, Michael Beck, Olaf A Bodamer, Lorne A Clarke, Carla E Hollak, Shuan-Pei Lin, Maria-Verónica Muñoz Rojas, Gregory M Pastores, Julian A Raiman, Maurizio Scarpa, Eileen P Treacy, Anna Tylki-Szymanska, J Edmond Wraith, Jiri Zeman…
    Citation: Orphanet Journal of Rare Diseases 2012 7:22
  19. For many rare diseases, strong analytic study designs for evaluating the efficacy and effectiveness of interventions are challenging to implement because of small, geographically dispersed patient populations ...

    Authors: Kylie Tingley, Doug Coyle, Ian D. Graham, Lindsey Sikora, Pranesh Chakraborty, Kumanan Wilson, John J. Mitchell, Sylvia Stockler-Ipsiroglu and Beth K. Potter
    Citation: Orphanet Journal of Rare Diseases 2018 13:104
  20. Mucopolysaccharidosis type II (MPS II; Hunter syndrome; OMIM 309900) is a rare lysosomal storage disease with progressive multisystem manifestations caused by deficient activity of the enzyme iduronate-2-sulfa...

    Authors: Joseph Muenzer, Simon A. Jones, Anna Tylki-Szymańska, Paul Harmatz, Nancy J. Mendelsohn, Nathalie Guffon, Roberto Giugliani, Barbara K. Burton, Maurizio Scarpa, Michael Beck, Yvonne Jangelind, Elizabeth Hernberg-Stahl, Maria Paabøl Larsen, Tom Pulles and David A. H. Whiteman
    Citation: Orphanet Journal of Rare Diseases 2017 12:82
  21. People living with rare disease often have protracted journeys towards diagnosis. In the last decade, programs have arisen around the world that are dedicated to ending this ‘diagnostic odyssey’, including the...

    Authors: Alicia Bauskis, Cecily Strange, Caron Molster and Colleen Fisher
    Citation: Orphanet Journal of Rare Diseases 2022 17:233
  22. Epidermolysis bullosa (EB) and autoimmune blistering diseases (AIBD) describe a group of rare chronic dermatoses characterized by cutaneous fragility and blistering. Although uncommon, significant ocular surfa...

    Authors: Brendon W. H. Lee, Jeremy C. K. Tan, Melissa Radjenovic, Minas T. Coroneo and Dedee F. Murrell
    Citation: Orphanet Journal of Rare Diseases 2018 13:83
  23. Historical controls (HCs) can be used for model parameter estimation at the study design phase, adaptation within a study, or supplementation or replacement of a control arm. Currently on the latter, there is ...

    Authors: Mercedeh Ghadessi, Rui Tang, Joey Zhou, Rong Liu, Chenkun Wang, Kiichiro Toyoizumi, Chaoqun Mei, Lixia Zhang, C. Q. Deng and Robert A. Beckman
    Citation: Orphanet Journal of Rare Diseases 2020 15:69
  24. The generic 36-item Short-Form Health Survey (SF-36v2) has been used to assess health related quality of life in adult patients with hereditary angioedema due to C1-inhibitor deficiency (C1-INH-HAE) even thoug...

    Authors: Paola Palao-Ocharan, Nieves Prior, Elia Pérez-Fernández, Magdalena Caminoa and Teresa Caballero
    Citation: Orphanet Journal of Rare Diseases 2022 17:88
  25. This study implemented MendelScan, a primary care rare disease case-finding tool, into a UK National Health Service population. Rare disease diagnosis is challenging due to disease complexity and low physician...

    Authors: Orlando Buendia, Sneha Shankar, Hadley Mahon, Connor Toal, Lara Menzies, Pradeep Ravichandran, Jane Roper, Jag Takhar, Rudy Benfredj and Will Evans
    Citation: Orphanet Journal of Rare Diseases 2022 17:54
  26. Central hypoventilation syndromes (CHS) are rare diseases of central autonomic respiratory control associated with autonomous nervous dysfunction. Severe central hypoventilation is the hallmark and the most li...

    Authors: Ha Trang, Jean-François Brunet, Hermann Rohrer, Jorge Gallego, Jeanne Amiel, Tiziana Bachetti, Kenneth H Fischbeck, Thomas Similowski, Christian Straus, Isabella Ceccherini, Debra E Weese-Mayer, Matthias Frerick, Katarzyna Bieganowska, Linda Middleton, Francesco Morandi and Giancarlo Ottonello
    Citation: Orphanet Journal of Rare Diseases 2014 9:194
  27. The objective of this study was to assess the potential impact of the implementation of multiple-criteria decision analysis (MCDA) on the Polish pricing and reimbursement (P&R) process with regard to orphan dr...

    Authors: Katarzyna Kolasa, Krzysztof M. Zwolinski, Zoltan Kalo and Tomasz Hermanowski
    Citation: Orphanet Journal of Rare Diseases 2016 11:23
  28. PIK3CA-related disorders include vascular malformations and overgrowth of various tissues that are caused by postzygotic, somatic variants in the gene encoding phosphatidylinositol-3-kinase (PI3K) catalytic subun...

    Authors: Guillaume Canaud, Adrienne M. Hammill, Denise Adams, Miikka Vikkula and Kim M. Keppler-Noreuil
    Citation: Orphanet Journal of Rare Diseases 2021 16:306
  29. The pediatric pulmonary multisystem Langerhans cell histiocytosis (PPM LCH) is associated with either low risk or high risk organ(s). The nodulo-cystic lung lesions although pathognomonic, yet are very variab...

    Authors: Mohamed Sedky, Seham Gohar, Sonia Ahmed, Iman Zaky, Asmaa Salama, Omayma Hassanein, Eslam Maher and Alaa ElHaddad
    Citation: Orphanet Journal of Rare Diseases 2023 18:361
  30. Men with the hereditary peroxisomal disorder X-linked adrenoleukodystrophy (ALD) are at risk of developing inflammatory demyelinating lesions in the brain. In the absence of inflammatory (post-contrast enhanci...

    Authors: Noortje J. M. L. Buermans, Sharon J. G. van den Bosch, Irene C. Huffnagel, Marjan E. Steenweg, Marc Engelen, Kim J. Oostrom and Gert J. Geurtsen
    Citation: Orphanet Journal of Rare Diseases 2019 14:217
  31. Prader-Willi syndrome (PWS) is a complex and multisystem neurobehavioral disease, which is caused by the lack of expression of paternally inherited imprinted genes on chromosome15q11.2-q13.1. The clinical mani...

    Authors: Dai Yang-Li, Luo Fei-Hong, Zhang Hui-Wen, Ma Ming-Sheng, Luo Xiao-Ping, Liu Li, Wang Yi, Zhou Qing, Jiang Yong-Hui and Zou Chao-Chun
    Citation: Orphanet Journal of Rare Diseases 2022 17:221
  32. Langerhans Cell Histiocytosis (LCH) is an orphan disease of clonal dendritic cells which may affect any organ of the body. Most of the knowledge about the diagnosis and therapy is based on pedriatic studies. A...

    Authors: Michael Girschikofsky, Maurizio Arico, Diego Castillo, Anthony Chu, Claus Doberauer, Joachim Fichter, Julien Haroche, Gregory A Kaltsas, Polyzois Makras, Angelo V Marzano, Mathilde de Menthon, Oliver Micke, Emanuela Passoni, Heinrich M Seegenschmiedt, Abdellatif Tazi and Kenneth L McClain
    Citation: Orphanet Journal of Rare Diseases 2013 8:72
  33. 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
  34. Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia. Prevalence in the...

    Authors: Raymund AC Roos
    Citation: Orphanet Journal of Rare Diseases 2010 5:40
  35. Achondroplasia is the most frequent FGFR3-related chondrodysplasia, leading to rhizomelic dwarfism, craniofacial anomalies, stenosis of the foramen magnum, and sleep apnea. Craniofacial growth and its correlat...

    Authors: Anne Morice, Maxime Taverne, Sophie Eché, Lucie Griffon, Brigitte Fauroux, Nicolas Leboulanger, Vincent Couloigner, Geneviève Baujat, Valérie Cormier-Daire, Arnaud Picard, Laurence Legeai-Mallet, Natacha Kadlub and Roman Hossein Khonsari
    Citation: Orphanet Journal of Rare Diseases 2023 18:88
  36. Pathogenic variants in the ATAD3A gene lead to a heterogenous clinical picture and severity ranging from recessive neonatal-lethal pontocerebellar hypoplasia through milder dominant Harel-Yoon syndrome up to, aga...

    Authors: Martina Skopkova, Hana Stufkova, Vibhuti Rambani, Viktor Stranecky, Katarina Brennerova, Miriam Kolnikova, Michaela Pietrzykova, Miloslav Karhanek, Lenka Noskova, Marketa Tesarova, Hana Hansikova and Daniela Gasperikova
    Citation: Orphanet Journal of Rare Diseases 2023 18:92
  37. Infantile-onset Pompe disease (IOPD) is a rare and devastating, autosomal recessive lysosomal storage disorder that manifests immediately after birth. In severe IOPD cases, complete/almost-complete acid alpha-...

    Authors: Zuhair Al-Hassnan, Nadia Al Hashmi, Nawal Makhseed, Tawfeg Ben Omran, Fatma Al Jasmi and Amal Al Teneiji
    Citation: Orphanet Journal of Rare Diseases 2022 17:388

    The Correction to this article has been published in Orphanet Journal of Rare Diseases 2023 18:365

  38. Wolfram Syndrome (WFS) is known to involve diabetes mellitus, diabetes insipidus, optic nerve atrophy, vision loss, hearing impairment, motor abnormalities, and neurodegeneration, but has been less clearly lin...

    Authors: Allison N. Bischoff, Angela M. Reiersen, Anna Buttlaire, Amal Al-lozi, Tasha Doty, Bess A. Marshall and Tamara Hershey
    Citation: Orphanet Journal of Rare Diseases 2015 10:66
  39. Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder characterized by degeneration of the anterior horn cells of the spinal cord. Nusinersen has been covered by public healthcare in F...

    Authors: Frédérique Audic, Marta Gomez Garcia de la Banda, Delphine Bernoux, Paola Ramirez-Garcia, Julien Durigneux, Christine Barnerias, Arnaud Isapof, Jean-Marie Cuisset, Claude Cances, Christian Richelme, Carole Vuillerot, Vincent Laugel, Juliette Ropars, Cécilia Altuzarra, Caroline Espil-Taris, Ulrike Walther-Louvier…
    Citation: Orphanet Journal of Rare Diseases 2020 15:148
  40. Extremely rare progressive diseases like Sedaghatian-type Spondylometaphyseal Dysplasia (SSMD) can be neonatally lethal and therefore go undiagnosed or are difficult to treat. Recent sequencing efforts have li...

    Authors: Dorian M. Cheff, Alysson R. Muotri, Brent R. Stockwell, Edward E. Schmidt, Qitao Ran, Reena V. Kartha, Simon C. Johnson, Plavi Mittal, Elias S. J. Arnér, Kristen M. Wigby, Matthew D. Hall and Sanath Kumar Ramesh
    Citation: Orphanet Journal of Rare Diseases 2021 16:446
  41. 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
  42. Mucopolysaccharidosis type III (MPS III) or Sanfilippo syndrome is a neurodegenerative disease caused by the accumulation of mucopolysaccharides in the body. As the symptoms are wide ranging, it is a challenge...

    Authors: P. Pérez-Núñez, E. Lázaro, I. Amayra, J. F. López-Paz, P. Caballero, O. Martínez, M. Pérez, S. Berrocoso, M. Al-Rashaida, M. García, A. A. Rodríguez and P. M. Luna
    Citation: Orphanet Journal of Rare Diseases 2021 16:486
  43. Mucopolysaccharidosis type I-Hurler syndrome (MPSI-H) is a lysosomal storage disease characterized by severe physical symptoms and cognitive decline. Early treatment with hematopoietic cell transplant (HSCT) i...

    Authors: N. Guffon, M. Pettazzoni, N. Pangaud, C. Garin, G. Lina-Granade, C. Plault, C. Mottolese, R. Froissart and A. Fouilhoux
    Citation: Orphanet Journal of Rare Diseases 2021 16:60
  44. Ehlers-Danlos syndrome (EDS, ORPHA98249) comprises a group of clinically and genetically heterogeneous heritable connective tissue disorders, chiefly characterized by joint hypermobility and instability, skin ...

    Authors: Thomas Wiesmann, Marco Castori, Fransiska Malfait and Hinnerk Wulf
    Citation: Orphanet Journal of Rare Diseases 2014 9:109
  45. Randomized controlled trials (RCTs) are the gold standard design of clinical research to assess interventions. However, RCTs cannot always be applied for practical or ethical reasons. To investigate the curren...

    Authors: Steffen Unkel, Christian Röver, Nigel Stallard, Norbert Benda, Martin Posch, Sarah Zohar and Tim Friede
    Citation: Orphanet Journal of Rare Diseases 2016 11:16
  46. Hereditary angioedema with C1 inhibitor deficiency is a disabling, potentially fatal condition characterized by recurrent episodes of swelling. Self-treatment is recommended, in order to reduce admissions to t...

    Authors: Andrea Zanichelli, Giulia Maria Azin, Federico Cristina, Romualdo Vacchini and Teresa Caballero
    Citation: Orphanet Journal of Rare Diseases 2018 13:51
  47. Canavan disease (CD, MIM # 271900) is a rare and devastating leukodystrophy of early childhood. To identify clinical features that could serve as endpoints for treatment trials, the clinical course of CD was s...

    Authors: Annette Bley, Jonas Denecke, Alfried Kohlschütter, Gerhard Schön, Sandra Hischke, Philipp Guder, Tatjana Bierhals, Heather Lau, Maja Hempel and Florian S. Eichler
    Citation: Orphanet Journal of Rare Diseases 2021 16:227