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Rare Diseases

Articles

  • Lanar, S., Acquadro, C., Seaton, J., Savre, I., & Arnould, B. (2020). To what degree are orphan drugs patient-centered? A review of the current state of clinical research in rare diseases. Orphanet J Rare Dis, 15(1), 134. doi:10.1186/s13023-020-01400-0
  • Stauder, R., Lambert, J., Desruol-Allardin, S., Savre, I., Gaugler, L., Stojkov, I., Siebert, U., & Chevrou-Séverac, H. (2020). Patient-reported outcome measures in studies of myelodysplastic syndromes and acute myeloid leukemia: Literature review and landscape analysis. Eur J Haematol, 104(5), 476-487. doi:10.1111/ejh.13389

 

Conference Abstracts and Posters

  • Rocco Adiutori, Berta Capella, Isabelle Savre, Christina Chamberlain, Sonia Bothorel, Roya Sherafat-Kazemzadeh. Use of Patient-Reported Outcomes for Sickle-Cell Disease in Clinical Trials – Do They Match with Consensus-Based Core Outcomes Sets Recommendations? Poster abstract at ISPOR Europe 2023.

  • Valentin Barbier, Celine Desvignes-Gleizes, Gavin Mc Donough, Ana Rath, Sonia Bothorel, Elodie de Bock. Facilitating the Identification of Appropriate Patient- Centered Outcome Measures (PCOMS) in Rare Disease RD) Clinical Research Using Functional Impacts Matching. Poster abstract at ISPOR Europe 2023.

  • Tanguy Vilcot, Celine Desvignes-Gleizes, Gavin Mc Donough, Mar Mañu Pereira, Mariangela Pellegrini, Roya Sherafat, Ana Rath, Elodie de Bock, Sonia Bothorel. Hierarchical clustering of rare diseases based on functional impacts to support the identification of potential PatientCentered Outcomes Measures (PCOMs) for Rare Diseases research. Poster abstract at ISPOR Europe 2023.

  • Celine Desvignes-Gleizes, Gavin McDonough, Valerie Serriere-Lanneau, Roya Sherafat, Ana Rath, Sonia Bothorel. Facilitating and Accelerating Patient-Centered Outcomes Measures (PCOMs) Awareness and Use in Clinical Research in Rare Diseases (RD). Poster abstract at ISPOR Europe 2023.

  • Celine Desvignes-Gleizes, Mar Mañú Pereira, Mariangela Pellegrini, Gavin Mc Donough, Caterina Lucano, Sonia Bothorel, Ana Rath. Development of a Patient-Reported Outcome Measures (PROMs) repository for use in Rare Diseases. RE(ACT) Congress and IRDiRC Conference 2023

  • Desvignes-Gleizes C., Vilcot T., Mc Donough G., Pellegrini M., Savre I., Bothorel S., Pereira M.M., Rath A., Arnould B. Facilitating and Accelerating Patient-Reported Outcomes (PRO) Selection to Use for Clinical Research and Rare Diseases (RD) - A European Rare Disease Research Coordination and Support Action (ERICA) Project. Poster presented at ISPOR Europe 2022.

  • Tanguy Vilcot, Gavin Mc Donough, Celine Desvignes-Gleizes, Mar Mañu Pereira, Mariangela Pellegrini, Sonia Bothorel, Ana Rath, Benoit Arnould. Hierarchical clustering of rare diseases based on functional impacts, an ERICA project study. Poster presented at ISOQOL 2022.
  • Céline Desvignes-Gleizes, Benoit Arnould, Mar Mañú Pereira, Mariangela Pellegrini , Gavin Mc Donough, Sonia Bothorel, Ana Rath. Developing a Patient-Reported Outcome Measures (PROMs) repository for use in Rare Diseases. Poster presented at ECRD 2022.
  • Annie Olry, Gavin McDonough, Charlotte Rodwell, Ana Rath, Catherine Acquadro, Laure-Lou Perrier, Celine Desvignes-Gleizes, Benoit Arnould. Meeting challenges in evaluating and measuring functioning in rare diseases: a collaboration between Orphanet and Mapi Research Trust. 10th European Conference on Rare Diseases & Orphan Products 2020
  • Celine Desvignes-Gleizes, Benoit Arnould (Co-authors), Mar Mañú Pereira, Mariangela Pellegrini, Gavin Mc Donough, Sonia Bothorel, Ana Rath. Developing a Patient-Reported Outcome Measures (PROMs) repository for use in Rare Diseases. 1Oth European Conference on Rare Diseases & Orphan Products 2020.
  • Chevrou-Séverac, H., Lambert, J., Savre, I., Koochaki, P., Gaugler, L., Stojkov, I., Sieber, U., & Stauder, R. (2019, June 13-16). Patient-reported outcome measures in clinical studies for myelodysplastic syndromes and acute myeloid leukemia: A literature review and landscape analysis. European Hematology Association (EHA) Congress 2019, Amsterdam, The Netherlands.
  • Arnould B, Desvignes-Gleizes C, Perrier L, Acquadro C, Rodwell C, Olry A, Rath A. Mapping functions, measurement instruments, and rare diseases: challenges and solutions. ISOQOL 2019, San Diego, California, USA
  • B. Arnould, C. Desvignes-Gleizes, L.L. Perrier, C. Acquadro, C. Rodwell, A. Olry, A. Rath. Mapping PROQOLID To Rare Diseases: An On-Going Colaboration Between Mapi Reasearch Trust And Orphanet. Poster asbtract at ISPOR 2019.
  • Arnould B, Desvignes-Gleizes C, Perrier L, Acquadro C, Rodwell C, Olry A, Rath A. Mapping functions, measurement instruments, and rare diseases: challenges and solutions. ISPOR EU 2019, Copenhagen, Denmark