posted on 2023-03-10, 13:47authored byAnne Pankow, Nico Meißner, Laura Fouquette, Ewelina Türk, Stephen Gilbert, Thilo Tübler, Anibh Das, Christoph Terkamp, Jessica Kaufeld, Gerhard-Rüdiger Burmester, Annette Doris Wagner
Poster presented at European Conference on Rare Disease (ECRD), 2022.
A new approach of conducting expert interviews to create 11 clinical vignettes on lysosomal storage diseases (LSDs) which were then used to update Ada’s condition models.
15 LSD patients and 9 LSD experts will rate both new and old disease models in Ada to compare efficacy.
This novel approach can potentially shorten the ‘time to diagnosis’ for rare diseases.