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Rare Disease Day 2023

Created 02 Feb 2023| Updated 02 Feb 2023 | 15 articles

300 million people worldwide are living with a rare disease, to help raise awareness of different rare diseases and management options for patients, Expert Opinion on Orphan Drugs is pleased to launch an article collection in advance of Rare Disease Day on the 28th of February 2023.

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Review
Druggable targets, clinical trial design and proposed pharmacological management in fibrodysplasia ossificans progressiva
Robert J. Pignolo & Frederick S. Kaplan

Originally published in Expert Opinion on Orphan Drugs, Volume: 8, Number: 4 (02 Apr 2020)

Published online: 13 Apr 2020
AbstractforDruggable targets, clinical trial design and proposed pharmacological management in fibrodysplasia ossificans progressiva | Full Text | References | PDF (1.3 MB) | EPUB
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Article
Fusariosis: an update on therapeutic options for management
Laila S Al Yazidi & Abdullah M. S. Al-Hatmi

Originally published in Expert Opinion on Orphan Drugs, Volume: 9, Number: 3 (04 Mar 2021)

Published online: 29 Mar 2021
AbstractforFusariosis: an update on therapeutic options for management | Full Text | References | PDF (400.7 KB) | EPUB
  • 138 Views
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Advances in drug therapies for cytomegalovirus in transplantation: a focus on maribavir and letermovir
Jackrapong Bruminhent & R.R. Razonable

Originally published in Expert Opinion on Orphan Drugs, Volume: 8, Number: 10 (02 Oct 2020)

Published online: 21 Oct 2020
AbstractforAdvances in drug therapies for cytomegalovirus in transplantation: a focus on maribavir and letermovir | Full Text | References | PDF (972.3 KB) | EPUB
  • 301 Views
  • 3 CrossRef citations
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Review
The potential of gene therapy for mucopolysaccharidosis type I
Luisa Natalia Pimentel Vera & Guilherme Baldo

Originally published in Expert Opinion on Orphan Drugs, Volume: 8, Number: 1 (02 Jan 2020)

Published online: 29 Jan 2020
AbstractforThe potential of gene therapy for mucopolysaccharidosis type I | Full Text | References | PDF (965.4 KB) | EPUB
  • 107 Views
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Multiple endocrine neoplasia type 1: a review of current diagnostic and treatment approaches
Francesca Marini, Francesca Giusti, Francesco Tonelli & Maria Luisa Brandi

Originally published in Expert Opinion on Orphan Drugs, Volume: 8, Number: 9 (01 Sep 2020) Special issue on Rare Cancers

Published online: 02 Sep 2020
AbstractforMultiple endocrine neoplasia type 1: a review of current diagnostic and treatment approaches | Full Text | References | PDF (386.5 KB) | EPUB
  • 51 Views
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Current and emerging treatment options to prevent renal failure due to autosomal dominant polycystic kidney disease
Gopala K. Rangan, Aarya Raghubanshi, Alissa Chaitarvornkit, Ashley N. Chandra, Robert Gardos, Alexandra Munt, Mark N. Read, Sayanthooran Saravanabavan, Jennifer Q.J. Zhang & Annette T.Y. Wong

Originally published in Expert Opinion on Orphan Drugs, Volume: 8, Number: 8 (02 Aug 2020)

Published online: 23 Aug 2020
AbstractforCurrent and emerging treatment options to prevent renal failure due to autosomal dominant polycystic kidney disease | Full Text | References | PDF (2.2 MB) | EPUB
  • 287 Views
  • 3 CrossRef citations
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Diagnostics and management approaches for Acanthamoeba keratitis
Nóra Szentmáry, Lei Shi, Loay Daas & Berthold Seitz

Originally published in Expert Opinion on Orphan Drugs, Volume: 8, Number: 7 (02 Jul 2020)

Published online: 14 Jul 2020
AbstractforDiagnostics and management approaches for Acanthamoeba keratitis | Full Text | References | PDF (2.8 MB) | EPUB
  • 94 Views
  • 3 CrossRef citations
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Steroid alternatives for managing eosinophilic lung diseases
Quentin Delcros, Matthieu Groh, Mouhamad Nasser, Jean-Emmanuel Kahn & Vincent Cottin

Originally published in Expert Opinion on Orphan Drugs, Volume: 9, Number: 7-10 (03 Oct 2021)

Published online: 03 Dec 2021
AbstractforSteroid alternatives for managing eosinophilic lung diseases | Full Text | References | PDF (2.4 MB) | EPUB
  • 164 Views
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Review
Molecular aspects of the altered Angiotensin II signaling in Gitelman’s syndrome
Verdiana Ravarotto, Giovanni Bertoldi, Lucia Federica Stefanelli, Laura Gobbi & Lorenzo A. Calò

Originally published in Expert Opinion on Orphan Drugs, Volume: 10, Number: 1 (02 Dec 2022)

Published online: 03 May 2022
AbstractforMolecular aspects of the altered Angiotensin II signaling in Gitelman’s syndrome | Full Text | References | PDF (2.1 MB) | EPUB
  • 107 Views
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Review
Recommendations for overcoming challenges in the diagnosis of lysosomal acid lipase deficiency
Pilar Giraldo, Laura López de Frutos & Jorge J Cebolla

Originally published in Expert Opinion on Orphan Drugs, Volume: 10, Number: 1 (02 Dec 2022)

Published online: 12 Oct 2022
AbstractforRecommendations for overcoming challenges in the diagnosis of lysosomal acid lipase deficiency | Full Text | References | PDF (570.5 KB) | EPUB
  • 186 Views
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Review
Targeting the IL-2 pathway for the treatment of mucosal melanoma
Ann C. Mercurio, Ashray B. Maniar, Alexander Z. Wei & Richard D. Carvajal

Originally published in Expert Opinion on Orphan Drugs, Volume: 10, Number: 1 (02 Dec 2022)

Published online: 16 Oct 2022
AbstractforTargeting the IL-2 pathway for the treatment of mucosal melanoma | Full Text | References | PDF (4.4 MB) | EPUB
  • 157 Views
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Article
Quality of life of patients with acromegaly: comparison of different therapeutic modalities
Yanitsa Rusenova, Silvia Vandeva, Atanaska Elenkova, Guenka Petrova & Maria Kamusheva

Originally published in Expert Opinion on Orphan Drugs, Volume: 10, Number: 1 (02 Dec 2022)

Published online: 14 Dec 2022
AbstractforQuality of life of patients with acromegaly: comparison of different therapeutic modalities | Full Text | References | PDF (1.1 MB) | EPUB
  • 563 Views
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Article
Drugs and biologics receiving FDA orphan drug designation: an analysis of the most frequently designated products and their repositioning strategies
Kathleen L. Miller, Selma Kraft, Abraham Ipe & Lewis Fermaglich

Originally published in Expert Opinion on Orphan Drugs, Volume: 9, Number: 11-12 (02 Dec 2021)

Published online: 01 Mar 2022
AbstractforDrugs and biologics receiving FDA orphan drug designation: an analysis of the most frequently designated products and their repositioning strategies | Full Text | References | PDF (1.6 MB) | EPUB
  • 230 Views
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Article
Pricing and reimbursement policy for new orphan drugs in South Korea: focused on patient accessibility and budget impact
Jong Hyuk Lee & Seung-Lai Yoo

Originally published in Expert Opinion on Orphan Drugs, Volume: 10, Number: 1 (02 Dec 2022)

Published online: 14 Oct 2022
AbstractforPricing and reimbursement policy for new orphan drugs in South Korea: focused on patient accessibility and budget impact | Full Text | References | PDF (701.5 KB) | EPUB
  • 317 Views
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Article
Current state of developing advanced therapies for rare diseases in the European Union
Tingting Qiu, Yitong Wang, Monique Dabbous, Eve Hanna, Ru Han, Shuyao Liang & Mondher Toumi

Originally published in Expert Opinion on Orphan Drugs, Volume: 8, Number: 10 (02 Oct 2020)

Published online: 21 Oct 2020
AbstractforCurrent state of developing advanced therapies for rare diseases in the European Union | Full Text | References | PDF (1.7 MB) | EPUB | Supplemental
  • 708 Views
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