Future Rare Diseases, Volume 4, Issue 1 (2024)

Browse this journal

Future Rare Diseases, Volume 4, Issue 1 (2024)

See all volumes and issues
Volume 4, 2024 Vol 3, 2023 Vol 2, 2022 Vol 1, 2021
Download citations Download PDFs Download issue

Issue In Progress

Plain Language Summary of Publication

Plain Language Summary of Publication
Study design of BI 1015550 for idiopathic pulmonary fibrosis and progressive pulmonary fibrosis: a plain language summary
Toby M Maher, Arata Azuma, Vincent Cottin, Shervin Assassi, Anna-Maria Hoffmann-Vold, Michael Kreuter, Fernando J Martinez, Justin M Oldham, Claudia Valenzuela, Marlies S Wijsenbeek, Yi Liu, Daniel Wachtlin, Susanne Stowasser, Donald F Zoz & Luca Richeldi
Article: FRD60
Published online: 19 Feb 2024
AbstractforStudy design of BI 1015550 for idiopathic pulmonary fibrosis and progressive pulmonary fibrosis: a plain language summary | Full Text | PDF (3.7 MB) | EPUB | Supplemental
  • 38 Views
  • 0 CrossRef citations
  • 0Altmetric
Open Access
Plain Language Summary of Publication
Pegcetacoplan compared with supportive care for 26 weeks for participants with paroxysmal nocturnal hemoglobinuria: a plain language summary
Raymond Siu Ming Wong, Juan Ramon Navarro-Cabrera, Narcisa Sonia Comia, Yeow Tee Goh, Henry Idrobo, Daolada Kongkabpan, David Gómez-Almaguer, Mohammed Al-Adhami, Temitayo Ajayi, Paulo Alvarenga, Jessica Savage, Pascal Deschatelets, Cedric Francois, Federico Grossi & Teresita Dumagay
Article: FRD47
Published online: 16 Oct 2023
First Page PreviewforPegcetacoplan compared with supportive care for 26 weeks for participants with paroxysmal nocturnal hemoglobinuria: a plain language summary | Full Text | PDF (2.5 MB) | EPUB
  • 4 Views
  • 0 CrossRef citations
  • 0Altmetric
Open Access

Patient Perspective

Comment
Living with lung complications of sarcoidosis
Divya C Patel & Kathryn Washington
Article: FRD59
Published online: 16 Apr 2024
AbstractforLiving with lung complications of sarcoidosis | Full Text | References | PDF (3.1 MB) | EPUB
  • 17 Views
  • 0 CrossRef citations
  • 0Altmetric
Open Access

Plain Language Summary of Publication

Plain Language Summary of Publication
Plain language summary of a study looking at whether genetic testing can help doctors diagnose the severity of mucopolysaccharidosis type I (MPS I)
Lorne A Clarke, Roberto Giugliani & Joseph Muenzer
Article: FRD48
Published online: 09 Nov 2023
AbstractforPlain language summary of a study looking at whether genetic testing can help doctors diagnose the severity of mucopolysaccharidosis type I (MPS I) | Full Text | PDF (2.1 MB) | EPUB
  • 15 Views
  • 0 CrossRef citations
  • 0Altmetric
Open Access
Plain Language Summary of Publication
Plain language summary of a study looking at the long-term benefits of enzyme replacement therapy in children and teenagers with Gaucher disease type 3
Amal El-Beshlawy, Anna Tylki-Szymanska, Nadia Belmatoug & Pramod K Mistry
Article: FRD52
Published online: 06 Feb 2024
AbstractforPlain language summary of a study looking at the long-term benefits of enzyme replacement therapy in children and teenagers with Gaucher disease type 3 | Full Text | PDF (2.2 MB) | EPUB
  • 21 Views
  • 0 CrossRef citations
  • 0Altmetric
Open Access
Plain Language Summary of Publication
Impact of itch on quality of life in people with primary biliary cholangitis: A plain language summary
Marlyn J. Mayo, Elizabeth Carey, Helen T. Smith, Andrea R. Mospan, Megan M. McLaughlin, April Thompson, Heather L. Morris, Robert A. Sandefur, Christopher L. Bowlus, on behalf of the TARGET-PBC Investigators & Cynthia Levy
Article: FRD50
Published online: 10 Nov 2023
AbstractforImpact of itch on quality of life in people with primary biliary cholangitis: A plain language summary | Full Text | PDF (1.2 MB) | EPUB
  • 12 Views
  • 0 CrossRef citations
  • 0Altmetric
Open Access
Plain Language Summary of Publication
A plain language summary of AAV-based gene therapy: challenges and potential solutions for people with antibodies against AAV
Tara Moroz, Martin Schulz, Daniel I. Levy, George Bashirians, Ian Winburn, Matthias Mahn, Suryanarayan Somanathan, Seng H. Cheng, Shandra J. Trantham & Barry J. Byrne
Article: FRD53
Published online: 13 Dec 2023
AbstractforA plain language summary of AAV-based gene therapy: challenges and potential solutions for people with antibodies against AAV | Full Text | PDF (3.6 MB) | EPUB
  • 22 Views
  • 1 CrossRef citations
  • 0Altmetric
Open Access
Plain Language Summary of Publication
From older to younger: intergenerational promotion of health behaviours in Portuguese families affected by familial amyloid polyneuropathy – Plain Language Summary
Carla Roma Oliveira, Álvaro Mendes, Isabelle Lousada & Liliana Sousa
Article: FRD49
Published online: 25 Oct 2023
First Page PreviewforFrom older to younger: intergenerational promotion of health behaviours in Portuguese families affected by familial amyloid polyneuropathy – Plain Language Summary | Full Text | PDF (1.4 MB) | EPUB
  • 2 Views
  • 0 CrossRef citations
  • 0Altmetric
Open Access
Plain Language Summary of Publication
Garadacimab for the prevention of hereditary angioedema attacks: a plain language summary of the VANGUARD study
Timothy J Craig, Avner Reshef, H Henry Li, Joshua S Jacobs, Jonathan A Bernstein, Henriette Farkas, William H Yang, Erik S G Stroes, Isao Ohsawa, Raffi Tachdjian, Michael E Manning, William R Lumry, Inmaculada Martinez Saguer, Emel Aygören-Pürsün, Bruce Ritchie, Gordon L Sussman, John Anderson, Kimito Kawahata, Yusuke Suzuki, Petra Staubach, Regina Treudler, Henrike Feuersenger, Lolis Wieman, Iris Jacobs & Markus Magerl
Article: FRD54
Published online: 22 Dec 2023
AbstractforGaradacimab for the prevention of hereditary angioedema attacks: a plain language summary of the VANGUARD study | Full Text | PDF (2.1 MB) | EPUB
  • 20 Views
  • 0 CrossRef citations
  • 0Altmetric
Open Access
Plain Language Summary of Publication
Spesolimab treatment for the prevention of flares in people with generalized pustular psoriasis (GPP): a plain language summary of the Effisayil™ 2 study
Akimichi Morita, Bruce Strober, A David Burden, Siew Eng Choon, Milan J Anadkat, Slaheddine Marrakchi, Tsen-Fang Tsai, Kenneth B Gordon, Diamant Thaçi, Min Zheng, Na Hu, Thomas Haeufel, Christian Thoma & Mark G Lebwohl
Article: FRD57
Published online: 23 Feb 2024
AbstractforSpesolimab treatment for the prevention of flares in people with generalized pustular psoriasis (GPP): a plain language summary of the Effisayil™ 2 study | Full Text | PDF (1.1 MB) | EPUB
  • 38 Views
  • 0 CrossRef citations
  • 0Altmetric
Open Access
Plain Language Summary of Publication
Plain language summary of efanesoctocog alfa for patients with severe hemophilia A
Annette von Drygalski, Pratima Chowdary, Roshni Kulkarni, Sophie Susen, Barbara A Konkle, Johannes Oldenburg, Davide Matino, Robert Klamroth, Angela C Weyand, Victor Jimenez-Yuste, Keiji Nogami, Bent Winding, Annemieke Willemze, Karin Knobe & XTEND-1 Trial Group
Article: FRD58
Published online: 26 Jan 2024
First Page PreviewforPlain language summary of efanesoctocog alfa for patients with severe hemophilia A | Full Text | PDF (1.4 MB) | EPUB
  • 19 Views
  • 0 CrossRef citations
  • 0Altmetric
Open Access
Plain Language Summary of Publication
How long do the effects of gene therapy based on adeno-associated virus last? A plain language summary
Tara Moroz, Manish Muhuri, Daniel I Levy, Martin Schulz, Laurence Woollard & Guangping Gao
Article: 2340283
Published online: 10 Apr 2024
AbstractforHow long do the effects of gene therapy based on adeno-associated virus last? A plain language summary | Full Text | PDF (1.6 MB) | EPUB
  • 7 Views
  • 0 CrossRef citations
  • 0Altmetric
Open Access
Plain Language Summary of Publication
The effects of garetosmab in people with fibrodysplasia ossificans progressiva (FOP): A plain language summary of the LUMINA-1 study
Maja Di Rocco, Robert J Pignolo, Richard Keen, Dushyanth Srinivasan, Scott J Mellis, Michelle Davis, Philippe Orcel, Christian Roux, Małgorzata Szczepanek, Javier Bachiller-Corral, Angela M Cheung, Kathryn M Dahir, Mona Al Mukaddam, Anita Boyapati, Kusha Mohammadi, Aris N Economides, Robert J Sanchez, Dinko Gonzalez Trotter, Susan Rhee, Gary A Herman, Richard DelGizzi, George D Yancopoulos, E Marelise W Eekhoff & Frederick S Kaplan
Article: FRD63
Published online: 11 Apr 2024
First Page PreviewforThe effects of garetosmab in people with fibrodysplasia ossificans progressiva (FOP): A plain language summary of the LUMINA-1 study | Full Text | PDF (1.2 MB) | EPUB
  • 9 Views
  • 0 CrossRef citations
  • 0Altmetric
Open Access
Plain Language Summary of Publication
What is the impact of long-chain fatty acid oxidation disorders on everyday life? Plain language summary of a survey
Christy Abrams, Kristin Voorhees & Eliza Kruger
Article: FRD64
Published online: 22 Apr 2024
AbstractforWhat is the impact of long-chain fatty acid oxidation disorders on everyday life? Plain language summary of a survey | Full Text | PDF (1.2 MB) | EPUB
  • 7 Views
  • 0 CrossRef citations
  • 0Altmetric
Open Access
Plain Language Summary of Publication
Plain language summary: treatment of paroxysmal nocturnal hemoglobinuria with pegcetacoplan for 48 weeks (PEGASUS study)
Régis Peffault de Latour, Jeff Szer, Ilene Weitz, Alexander Röth, Britta Höchsmann, Jens Panse, Kensuke Usuki, Morag Griffin, Jean-Jacques Kiladjian, Carlos de Castro, Hisakazu Nishimori, Mohammed Al-Adhami, Pascal Deschatelets, Cedric Francois, Antonio Risitano & Peter Hillmen
Article: 2340267
Published online: 05 May 2024
AbstractforPlain language summary: treatment of paroxysmal nocturnal hemoglobinuria with pegcetacoplan for 48 weeks (PEGASUS study) | Full Text | PDF (1.9 MB) | EPUB
  • 0 Views
  • 0 CrossRef citations
  • 0Altmetric
Open Access

Explore articles

Explore the most recently published articles

Plain language summary: treatment of paroxysmal nocturnal hemoglobinuria with pegcetacoplan for 48 weeks (PEGASUS study)
Régis Peffault de Latour et al.
Plain Language Summary of Publication | Published online: 5 May 2024
Open Access
What is the impact of long-chain fatty acid oxidation disorders on everyday life? Plain language summary of a survey
Christy Abrams et al.
Plain Language Summary of Publication | Published online: 22 Apr 2024
Open Access
How long do the effects of gene therapy based on adeno-associated virus last? A plain language summary
Tara Moroz et al.
Plain Language Summary of Publication | Published online: 10 Apr 2024
Open Access
The effects of garetosmab in people with fibrodysplasia ossificans progressiva (FOP): A plain language summary of the LUMINA-1 study
Maja Di Rocco et al.
Plain Language Summary of Publication | Published online: 11 Apr 2024
Open Access