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A qualitative study to explore the burden of disease in activated phosphoinositide 3-kinase delta syndrome (APDS).

Ian HitchcockHanna SkrobanskiElina MatterEwen MunroJohn WhalenJoanne Tutein NoltheniusAlex Crocker-BuqueAmanda HarringtonDelphine VandenbergheSarah AcasterKate Williams
Published in: Orphanet journal of rare diseases (2024)
APDS has a high disease burden and there is an unmet need for licensed, more targeted treatments which modify disease progression. This study was the first to describe the day-to-day experience and HRQoL impact of APDS from the perspective of individuals living with the condition, caregivers and treating physicians.
Keyphrases
  • primary care
  • palliative care
  • cancer therapy
  • case report
  • risk factors