Orphanet Journal of Rare Diseases

Orphanet Journal of Rare Diseases

Orphanet Journal of Rare Diseases is an open access, online journal that encompasses all aspects of rare diseases and orphan drugs. The journal publishes high-quality reviews on specific rare diseases. In addition, the journal may consider articles on clinical trial outcome reports, either positive or negative, and articles on public health issues in the field of rare diseases and orphan drugs.

Editor-in-Chief

• Ségolène Aymé, Hopital Broussais, INSERM

Editorial Board | Instructions for authors | FAQ

Society affiliations

The official journal of Orphanet, the portal for rare diseases and orphan drugs

• Position statement

   

  

  Principles for consistent value assessment and sustainable funding of orphan drugs in Europe

  Gutierrez L, Patris J, Hutchings A and Cowell WOrphanet Journal of Rare Diseases 2015, 10:53 (3 May 2015)
• Research

   

  

  No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome

  Schlögel MJ, Mendola A, Fastré E, Vasudevan P, Devriendt K, de Ravel TJL, Van Esch H, Casteels I et al.Orphanet Journal of Rare Diseases 2015, 10:52 (2 May 2015)
• Review

   

  

  Rhabdomyolysis: a genetic perspective

  Scalco RS, Gardiner AR, Pitceathly RDS, Zanoteli E, Becker J, Holton JL, Houlden H, Jungbluth H et al.Orphanet Journal of Rare Diseases 2015, 10:51 (2 May 2015)
• Research

   

  

  Immunogenicity of idursulfase and clinical outcomes in very young patients (16 months to 7.5 years) with mucopolysaccharidosis II (Hunter syndrome)

  Pano A, Barbier AJ, Bielefeld B, Whiteman DAH and Amato DAOrphanet Journal of Rare Diseases 2015, 10:50 (24 April 2015)
• Position statement

   

  

  The TREAT-NMD advisory committee for therapeutics (TACT): an innovative de-risking model to foster orphan drug development

  Heslop E, Csimma C, Straub V, McCall J, Nagaraju K, Wagner KR, Caizergues D, Korinthenberg R et al.Orphanet Journal of Rare Diseases 2015, 10:49 (23 April 2015)
• Research

   

  

  Prediction of survival for patients with pemphigus vulgaris and pemphigus foliaceus: a retrospective cohort study

  Baican A, Chiorean R, Leucuta DC, Baican C, Danescu S, Ciuce D and Sitaru COrphanet Journal of Rare Diseases 2015, 10:48 (22 April 2015)
• Research

   

  

  Reversible cerebral vasoconstriction syndrome following red blood cells transfusion: a case series of 7 patients

  Liang H, Xu Z, Zheng Z, Lou H and Yue WOrphanet Journal of Rare Diseases 2015, 10:47 (22 April 2015)
• Research

   

  

  Pressure for drug development in lysosomal storage disorders – a quantitative analysis thirty years beyond the US orphan drug act

  Mechler K, Mountford WK, Hoffmann GF and Ries MOrphanet Journal of Rare Diseases 2015, 10:46 (18 April 2015)
• Research

   

  

  Effect of cyclic, low dose pyrimethamine treatment in patients with Late Onset Tay Sachs: an open label, extended pilot study

  Osher E, Fattal-Valevski A, Sagie L, Urshanski N, Sagiv N, Peleg L, Lerman-Sagie T, Zimran A et al.Orphanet Journal of Rare Diseases 2015, 10:45 (17 April 2015)
• Research

   

  

  Phenotypic and molecular insights into CASK-related disorders in males

  Moog U, Bierhals T, Brand K, Bautsch J, Biskup S, Brune T, Denecke J, de Die-Smulders CE et al.Orphanet Journal of Rare Diseases 2015, 10:44 (12 April 2015)