Improving the clinical accuracy and flexibility of the Alkaptonuria severity score index.
Alkaptonuria
composite measure
disease progression
nitisinone
resource‐limited
Journal
JIMD reports
ISSN: 2192-8304
Titre abrégé: JIMD Rep
Pays: United States
ID NLM: 101568557
Informations de publication
Date de publication:
Jul 2022
Jul 2022
Historique:
received:
28
01
2022
revised:
31
03
2022
accepted:
04
04
2022
entrez:
13
7
2022
pubmed:
14
7
2022
medline:
14
7
2022
Statut:
epublish
Résumé
Alkaptonuria (AKU) is a rare genetic disorder where oxidised homogentisic acid accumulates in connective tissues, leading to multisystem disease. The clinical evaluation Alkaptonuria Severity Score Index (cAKUSSI) is a composite score that assesses the extent of AKU disease. However, some components assess similar disease features, are difficult to measure reliably or cannot be measured in resource-limited environments. cAKUSSI data from the 4-year SONIA 2 randomised controlled trial, which investigated nitisinone treatment in adults with AKU, were analysed (
Identifiants
pubmed: 35822087
doi: 10.1002/jmd2.12290
pii: JMD212290
pmc: PMC9259391
doi:
Types de publication
Journal Article
Langues
eng
Pagination
361-370Informations de copyright
© 2022 The Authors. JIMD Reports published by John Wiley & Sons Ltd on behalf of SSIEM.
Déclaration de conflit d'intérêts
Harriet E. O. Cant, Iro Chatzidaki and Lucy A. Eddowes are employees of Costello Medical. Birgitta Olsson and Mattias Rudebeck were shareholders of Sobi at the time of these analyses, and were employees of Sobi at the initiation of these analyses. In the last 5 years, Lakshminarayan R. Ranganath has received honoraria and consulting fees from Sobi. Jean Baptiste Arnoux and Richard Imrich declare that they have no conflict of interest.
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