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  1. Research

    Eplerenone for early cardiomyopathy in Duchenne muscular dystrophy: results of a two-year open-label extension trial

    Cardiomyopathy is a leading cause of morbidity and mortality in boys with Duchenne muscular dystrophy (DMD). We recently showed in a 12-month double-blind randomized controlled trial that adding eplerenone to ...

    Subha V. Raman, Kan N. Hor, Wojciech Mazur, Xin He, John T. Kissel, Suzanne Smart, Beth McCarthy, Sharon L. Roble and Linda H. Cripe

    Orphanet Journal of Rare Diseases 2017 12:39

    Published on: 20 February 2017

  2. Research

    A new framework for evaluating the health impacts of treatment for Gaucher disease type 1

    The Disease Severity Scoring System (DS3) is a validated measure for evaluating Gaucher disease type 1 (GD1) severity. We developed a new framework, consisting of health states, transition probabilities betwee...

    Michael L. Ganz, Sean Stern, Alex Ward, Luba Nalysnyk, Martin Selzer, Alaa Hamed and Neal Weinreb

    Orphanet Journal of Rare Diseases 2017 12:38

    Published on: 20 February 2017

  3. Research

    The RENAPE observational registry: rationale and framework of the rare peritoneal tumors French patient registry

    Rare peritoneal cancers represent complex clinical situations requiring a specific and multidisciplinary management. Because of their rarity, lack of awareness and knowledge often leads to diagnostic delays an...

    L. Villeneuve, G. Passot, O. Glehen, S. Isaac, F. Bibeau, P. Rousset and F. N. Gilly

    Orphanet Journal of Rare Diseases 2017 12:37

    Published on: 17 February 2017

  4. Research

    Are products with an orphan designation for oncology indications different from products for other rare indications? A retrospective analysis of European orphan designations granted between 2002-2012

    Orphan designated medicinal products benefit from regulatory and economic incentives for orphan drug development. Approximately 40% of orphan designations target rare neoplastic disorders, referring to rare ca...

    Kim Pauwels, Isabelle Huys, Minne Casteels, Kristina Larsson, Caroline Voltz, Karri Penttila, Thomas Morel and Steven Simoens

    Orphanet Journal of Rare Diseases 2017 12:36

    Published on: 16 February 2017

  5. Research

    Non-optic glioma in adults and children with neurofibromatosis 1

    Non-optic gliomas occur in 5% of children with NF1, but little is known about these tumours in adults. We aimed to investigate progression, spontaneous regression and the natural history of non-optic gliomas i...

    Laura Sellmer, Said Farschtschi, Marco Marangoni, Manraj K. S. Heran, Patricia Birch, Ralph Wenzel, Jan M. Friedman and Victor-Felix Mautner

    Orphanet Journal of Rare Diseases 2017 12:34

    Published on: 15 February 2017

  6. Research

    Early disease progression of Hurler syndrome

    Newborn screening for mucopolysaccharidosis type I (MPS I) shows promise to improve outcomes by facilitating early diagnosis and treatment. However, diagnostic tests for MPS I are of limited value in predictin...

    Bridget T. Kiely, Jennifer L. Kohler, Hannah Y. Coletti, Michele D. Poe and Maria L. Escolar

    Orphanet Journal of Rare Diseases 2017 12:32

    Published on: 14 February 2017

  7. Research

    STUB1/CHIP mutations cause Gordon Holmes syndrome as part of a widespread multisystemic neurodegeneration: evidence from four novel mutations

    CHIP, the protein encoded by STUB1, is a central component of cellular protein homeostasis and interacts with several key proteins involved in the pathogenesis of manifold neurodegenerative diseases. This gives r...

    Stefanie Nicole Hayer, Tine Deconinck, Benjamin Bender, Katrien Smets, Stephan Züchner, Selina Reich, Ludger Schöls, Rebecca Schüle, Peter De Jonghe, Jonathan Baets and Matthis Synofzik

    Orphanet Journal of Rare Diseases 2017 12:31

    Published on: 13 February 2017

  8. Research

    Identification of TAZ mutations in pediatric patients with cardiomyopathy by targeted next-generation sequencing in a Chinese cohort

    Barth syndrome (BTHS) is a rare X-linked recessive disease characterized by cardiomyopathy, neutropenia, skeletal myopathy and growth delay. Early diagnosis and appropriate treatment may improve the prognosis ...

    Jian Wang, Ying Guo, Meirong Huang, Zhen Zhang, Junxue Zhu, Tingliang Liu, Lin Shi, Fen Li, Huimin Huang and Lijun Fu

    Orphanet Journal of Rare Diseases 2017 12:26

    Published on: 10 February 2017

  9. Research

    Evaluation of a web-based registry of inherited bleeding disorders: a descriptive study of the Brazilian experience with HEMOVIDAweb Coagulopatias

    Inherited bleeding disorders (IBD) consist of a group of rare heterogeneous diseases, which require treatment for life. Management of these disorders is complex and costly. Therefore, good quality data of the ...

    Suely Meireles Rezende, Silvia Helena Lacerda Rodrigues, Kelly Neves Pinheiro Brito, Diego Lima Quintino da Silva, Marcos Lázaro Santo, Bárbara de Jesus Simões, Guilherme Genovez, Helder Teixeira Melo, João Paulo Baccara Araújo and Danila Augusta Accioly Varella Barca

    Orphanet Journal of Rare Diseases 2017 12:27

    Published on: 10 February 2017

  10. Research

    Identification of a large intronic transposal insertion in SLC17A5 causing sialic acid storage disease

    Sialic acid storage diseases are neurodegenerative disorders characterized by accumulation of sialic acid in the lysosome. These disorders are caused by mutations in SLC17A5, the gene encoding sialin, a sialic ac...

    Maja Tarailo-Graovac, Britt I. Drögemöller, Wyeth W. Wasserman, Colin J. D. Ross, Ans M. W. van den Ouweland, Niklas Darin, Gittan Kollberg, Clara D. M. van Karnebeek and Maria Blomqvist

    Orphanet Journal of Rare Diseases 2017 12:28

    Published on: 10 February 2017

  11. Research

    Survival in infants treated with sebelipase Alfa for lysosomal acid lipase deficiency: an open-label, multicenter, dose-escalation study

    Infants presenting with lysosomal acid lipase deficiency have marked failure to thrive, diarrhea, massive hepatosplenomegaly, anemia, rapidly progressive liver disease, and death typically in the first 6 month...

    Simon A. Jones, Sandra Rojas-Caro, Anthony G. Quinn, Mark Friedman, Sachin Marulkar, Fatih Ezgu, Osama Zaki, J. Jay Gargus, Joanne Hughes, Dominique Plantaz, Roshni Vara, Stephen Eckert, Jean-Baptiste Arnoux, Anais Brassier, Kim-Hanh Le Quan Sang and Vassili Valayannopoulos

    Orphanet Journal of Rare Diseases 2017 12:25

    Published on: 8 February 2017

  12. Research

    An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypes

    We describe molecular diagnosis in a complex consanguineous family: four offspring presented with combinations of three distinctive phenotypes; non-syndromic hearing loss (NSHL), an unusual skeletal phenotype ...

    Polona Le Quesne Stabej, Chela James, Louise Ocaka, Mehmet Tekman, Stephanie Grunewald, Emma Clement, Horia C. Stanescu, Robert Kleta, Deborah Morrogh, Alistair Calder, Hywel J. Williams and Maria Bitner-Glindzicz

    Orphanet Journal of Rare Diseases 2017 12:24

    Published on: 7 February 2017

  13. Research

    Coenzyme Q10 partially restores pathological alterations in a macrophage model of Gaucher disease

    Gaucher disease (GD) is caused by mutations in the GBA1 gene which encodes lysosomal β-glucocerebrosidase (GCase). In GD, partial or complete loss of GCase activity causes the accumulation of the glycolipids g...

    Mario de la Mata, David Cotán, Manuel Oropesa-Ávila, Marina Villanueva-Paz, Isabel de Lavera, Mónica Álvarez-Córdoba, Raquel Luzón-Hidalgo, Juan M. Suárez-Rivero, Gustavo Tiscornia and José A. Sánchez-Alcázar

    Orphanet Journal of Rare Diseases 2017 12:23

    Published on: 6 February 2017

  14. Research

    Evolution of structural neuroimaging biomarkers in a series of adult patients with Niemann-Pick type C under treatment

    Niemann-Pick type C (NPC) disease is a lysosomal storage disorder characterized by a wide clinical spectrum and non-specific conventional magnetic resonance imaging (MRI) signs. As substrate reduction therapy ...

    Marion Masingue, Isaac Adanyeguh, Yann Nadjar, Frédéric Sedel, Damien Galanaud and Fanny Mochel

    Orphanet Journal of Rare Diseases 2017 12:22

    Published on: 2 February 2017

  15. Research

    Fifteen-year follow-up of Italian families affected by arginine glycine amidinotransferase deficiency

    Arginine:glycine amidinotransferase deficiency (AGAT-d) is a very rare inborn error of creatine synthesis mainly characterized by absence of brain Creatine (Cr) peak, intellectual disability, severe language i...

    Roberta Battini, M. Grazia Alessandrì, Claudia Casalini, Manuela Casarano, Michela Tosetti and Giovanni Cioni

    Orphanet Journal of Rare Diseases 2017 12:21

    Published on: 2 February 2017

  16. Research

    High prevalence of autoimmune disease in the rare inflammatory bone disorder sternocostoclavicular hyperostosis: survey of a Dutch cohort

    Sternocostoclavicular hyperostosis (SCCH; ORPHA178311) is a rare inflammatory disorder of the axial skeleton, the precise pathophysiology of which remains to be established. We addressed the potential associat...

    Pieter A. Valkema, Clare H. Luymes, Janneke E. Witteveen, Saskia le Cessie, Natasha M. Appelman-Dijkstra, Pancras C. W. Hogendoorn and Neveen A. T. Hamdy

    Orphanet Journal of Rare Diseases 2017 12:20

    Published on: 25 January 2017

  17. Review

    Diseases associated with calcium-sensing receptor

    The calcium-sensing receptor (CaSR) plays a pivotal role in systemic calcium metabolism by regulating parathyroid hormone secretion and urinary calcium excretion. The diseases caused by an abnormality of the C...

    C. Vahe, K. Benomar, S. Espiard, L. Coppin, A. Jannin, M. F. Odou and M. C. Vantyghem

    Orphanet Journal of Rare Diseases 2017 12:19

    Published on: 25 January 2017

  18. Research

    Normal sleep on mechanical ventilation in adult patients with congenital central alveolar hypoventilation (Ondine’s curse syndrome)

    The purpose of this study was to describe the sleep structure (especially slow wave sleep) in adults with congenital central hypoventilation syndrome (CCHS), a rare genetic disease due to mutations in the PHOX...

    Valérie Attali, Christian Straus, Michel Pottier, Marie-Annick Buzare, Capucine Morélot-Panzini, Isabelle Arnulf and Thomas Similowski

    Orphanet Journal of Rare Diseases 2017 12:18

    Published on: 23 January 2017

  19. Letter to the Editor

    Evolving prevalence of haematological malignancies in orphan designation procedures in the European Union

    The Committee for Orphan Medicinal Products (COMP) evaluates prevalence of rare conditions as one of the criteria for granting an orphan designation with a prevalence threshold of 5 in 10.000. At the time of M...

    Benedetta Polsinelli, Stelios Tsigkos, Frauke Naumann-Winter, Segundo Mariz and Bruno Sepodes

    Orphanet Journal of Rare Diseases 2017 12:17

    Published on: 21 January 2017

  20. Research

    Impacts of caring for a child with the CDKL5 disorder on parental wellbeing and family quality of life

    Although research in this area remains sparse, raising a child with some genetic disorders has been shown to adversely impact maternal health and family quality of life. The aim of this study was to investigat...

    Yuka Mori, Jenny Downs, Kingsley Wong, Barbara Anderson, Amy Epstein and Helen Leonard

    Orphanet Journal of Rare Diseases 2017 12:16

    Published on: 19 January 2017

  21. Research

    The burden of amyloid light chain amyloidosis on health-related quality of life

    Light chain (AL) amyloidosis is a rare disease characterized by misfolded amyloid protein deposits in tissues and vital organs, and little is known about the burden of AL amyloidosis on health-related quality ...

    Martha Bayliss, Kristen L. McCausland, Spencer D. Guthrie and Michelle K. White

    Orphanet Journal of Rare Diseases 2017 12:15

    Published on: 19 January 2017

  22. Review

    Challenges in orphan drug development and regulatory policy in China

    While regulatory policy is well defined for orphan drug development in the United States and Europe, rare disease policy in China is still evolving. Many Chinese patients currently pay out of pocket for intern...

    Alice Cheng and Zhi Xie

    Orphanet Journal of Rare Diseases 2017 12:13

    Published on: 18 January 2017

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