Rare Diseases Archives - Le ali di Camilla

Rare Diseases

17 April 2023

How do patients and other members of the public engage with the orphan drug development? A narrative qualitative synthesis

Orphanet J Rare Dis. 2023 Apr 17;18(1):84. doi: 10.1186/s13023-023-02682-w. PMID: 37069597; PMCID: PMC10108537. How do patients and other members of the public engage with the orphan […]

25 August 2023

Realising the potential of gene therapies for rare and ultra-rare inherited diseases

Hum Gene Ther. 2023 Aug 25. doi: 10.1089/hum.2023.127. Epub ahead of print. PMID: 37624746. Realising the potential of gene therapies for rare and ultra-rare inherited diseases […]

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 […]

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

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 […]