Rare Diseases
4 July 2023

Overview of patients’ cohorts in the French National rare disease registry

Keywords: Rare disease national registry, Fnaace
1 September 2023

Composite endpoints, including patient reported outcomes, in rare diseases

Orphanet J Rare Dis. 2023 Sep 1;18(1):262. doi: 10.1186/s13023-023-02819-x. PMID: 37658423; PMCID: PMC10474650. Composite endpoints, including patient reported outcomes, in rare diseases Authors: Johan Verbeeck 1, Maya Dirani 2, Johann […]
4 September 2023

ORPHAcodes use for the coding of rare diseases: comparison of the accuracy and cross country comparability

Orphanet J Rare Dis. 2023 Sep 4;18(1):267. doi: 10.1186/s13023-023-02864-6. PMID: 37667299. ORPHAcodes use for the coding of rare diseases: comparison of the accuracy and cross country […]
26 September 2023

Pharmacovigilance for rare diseases: a bibliometrics and knowledge-map analysis based on web of science

Orphanet J Rare Dis. 2023 Sep 26;18(1):303. doi: 10.1186/s13023-023-02915-y. PMID: 37752556. Pharmacovigilance for rare diseases: a bibliometrics and knowledge-map analysis based on web of science Authors: […]
17 October 2023

Parental Intervention Program for Preschool children with Rare Diseases – a mixed methods evaluation of parents’ experiences and utility

Orphanet J Rare Dis. 2023 Oct 17;18(1):327. doi: 10.1186/s13023-023-02935-8. PMID: 37848938. Parental Intervention Program for Preschool children with Rare Diseases – a mixed methods evaluation of […]
17 October 2023

Patient pathways for rare diseases in Europe: ataxia as an example

Orphanet J Rare Dis 18, 328 (2023). https://doi.org/10.1186/s13023-023-02907-y Patient pathways for rare diseases in Europe: ataxia as an example Authors: Julie Vallortigara1, Julie Greenfield2, Barry Hunt2, Deborah […]
27 February 2024

Trends in orphan medicinal products approvals in the European Union between 2010–2022

Orphanet J Rare Dis. 2024 Feb 27;19(1):91. doi: 10.1186/s13023-024-03095-z. PMID: 38413985. Trends in orphan medicinal products approvals in the European Union between 2010–2022 Authors: Luísa Bouwman 1 2, Bruno […]