To what degree are orphan drugs patient-centered? A review of the current state of clinical research in rare diseases

Autor: Sally Lanar, Benoit Arnould, James Seaton, C. Acquadro, Isabelle Savre

Publikováno v: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-18 (2020)
Orphanet Journal of Rare Diseases

BackgroundOver the past 30 years, the healthcare industry has increasingly turned its attention to rare diseases. Regulators have emphasized the need for clinical research in this area to be patient-centered. However, there is a lack of evidence conc

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62cd479b66937a6620eee18cb096a8f5
http://link.springer.com/article/10.1186/s13023-020-01400-0

Good practices for the translation, cultural adaptation, and linguistic validation of clinician-reported outcome, observer-reported outcome, and performance outcome measures

Autor: S McKown, Sonya Eremenco, Mona L. Martin, Caroline Anfray, Dana Weiss, Christelle Giroudet, Benjamin Arnold, C. Acquadro

Publikováno v: Journal of Patient-Reported Outcomes
Journal of Patient-Reported Outcomes, Vol 4, Iss 1, Pp 1-8 (2020)

Within current literature and practice, the category of patient-reported outcome (PRO) measures has been expanded into the broader category of clinical outcome assessments (COAs), which includes the subcategory of PRO, as well as clinician-reported o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d68b4f8e668fa99fb80c4aa3e71c6b0
http://europepmc.org/articles/PMC7642163

Linguistic Validation of the Phenylketonuria - Quality of Life (PKU-QOL) Questionnaire Into Brazilian Portuguese

Autor: Luciana Giugliani, Elaina Jurecki, Fabíola Vicente, Ana Rita Ferreira, Daniela Giovannetti, C. Acquadro, Efigênia Leite

Publikováno v: Journal of Inborn Errors of Metabolism and Screening, Vol 7 (2019)
Journal of Inborn Errors of Metabolism and Screening v.7 2019
Journal of Inborn Errors of Metabolism and Screening
Instituto Genética para Todos (IGPT)
instacron:IGPT
Journal of Inborn Errors of Metabolism and Screening, Volume: 7, Article number: e20180001, Published: 07 MAR 2019

The phenylketonuria - quality of life (PKU-QOL) questionnaire was developed to assess the impact of phenylketonuria (PKU) and its treatment on the health-related quality of life (HRQL) of patients and their caregivers. Available in four versions (chi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::77d57cf9c281dacdc08a0e6c4cc28955
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942019000100301&tlng=en

[French adaptation of a new score for global assessment of psoriasis severity: The Simplified Psoriasis Index (SPI)]

Autor: M A, Richard, S, Aractingi, P, Joly, E, Mahé, P, Auquier, S, Le Guen, C, Acquadro, F, Boucher, R J G, Chalmers

Publikováno v: Annales de dermatologie et de venereologie. 146(12)

Although several scores exist to assess psoriasis severity, most have marked limitations that rule out their use in routine clinical practice. A new score, the Simplified Psoriasis Index (SPI), has recently been developed and validated in adults in B

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::47b774611b64d7dc07cfc8b73b1bc192
https://pubmed.ncbi.nlm.nih.gov/31623858

Development of the US English version of the phenylketonuria – quality of life (PKU-QOL) questionnaire

Autor: Amy Cunningham, C. Acquadro, Vanessa Birardi, Grégory Gagol, Elaina Jurecki

Publikováno v: Health and Quality of Life Outcomes

Background Phenylketonuria (PKU) is a rare genetic disorder caused by a defect in the metabolism of phenylalanine (PHE) resulting in elevated blood and brain PHE levels, and leading to cognitive, emotional, and psychosocial problems. The phenylketonu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd6a8dd23c87223d36c102c50d164ff3
https://doi.org/10.1186/s12955-017-0620-1