Reference number : 172-2022-2023-Q2-992766, amendment number : 1, agreement type : G, recipient legal name : Ecogene 21, recipient country : CA, recipient province : QC, recipient city : Saguenay|Saguenay, recipient postal code : G7H 7K9, program name english : Collaborative Science, Technology and Innovation Program - Collaborative R&D Initiatives, program name french : Programme de collaboration en science, en technologie et en innovation - Initiatives de collaboration en R-D, program purpose english : Collaborate on multiparty research and development programs to catalyze transformative, high-risk, high-reward research with the potential for game-changing scientific discoveries and technological breakthroughs in priority areas., program purpose french : Collaborer à des programmes multipartites de recherche-développement dans le but de profiter de la synergie entre la recherche transformatrice à haut risque et à haut rendement et le potentiel de découvertes scientifiques et de percées technologiques révolutionnaires dans des secteurs d’intervention prioritaires., agreement title english : Selection and validation of the targeted population and clinical biomarkers to support Phase I/II trials and long-term monitoring of patients treated with the LPLD gene therapy, agreement title french : Sélection et validation de la population ciblée et des biomarqueurs cliniques pour soutenir les essais de phase I et II et le suivi à long terme des patients soumis à des traitements par thérapie génique de la déficience en lipoprotéine lipase (LPL)., agreement number : 992766, agreement value : 215193.0, agreement start date : 2022-07-21, agreement end date : 2025-12-31, description english : The current project aims at obtaining relevant data to select the targeted population and clinical biomarkers for the long-term monitoring of efficacy of LPLD gene therapy to support Phase I/II clinical trial design to be proposed to Health Canada at a pre-CTA meeting Definition and validation of the study population and of the main inclusion and exclusion criteria will be performed using data obtained from discussions with Canadian/international experts and from the documentation of the natural history of LPL deficiency, including epigenetic, gene expression and sequencing analyses. The natural history of LPL deficiency, including a panel of critical biomarkers, will become a ‘baseline’ against which to benchmark long-term efficacy of LPLD gene therapy. The analysis and selection of clinical biomarkers will leverage the ongoing research program on the natural history of severe hypertriglyceridemia (SMASH: Systems and Molecular Approaches of Severe Hyperlipidemias) (Table 1). In parallel, the same panel of biomarkers will be monitored in preclinical long-term safety and efficacy study of the lead LPLD gene therapy construct in LPL-/- transgenic mice conducted by UBC. This will provide pre-clinical baseline of potential effect of gene therapy treatment on selected biomarkers representative of the ‘natural’ history of disease in humans. ( Figure 1). Studies above will allow to identify safety and efficacy assessment criteria that will be used in the clinical trial, including the definition of the primary and secondary objectives, as well as to identify all potential concurrent and companion treatments. Finally, socioeconomic study of chylomicronemia and pharmacoeconomic analyses will be performed to position this new gene therapy in relation to the competitive environment and the burden of LPL deficiency, description french : Sélection et validation de la population ciblée et des biomarqueurs cliniques pour soutenir les essais de phase I et II et le suivi à long terme des patients soumis à des traitements par thérapie génique de la déficience en lipoprotéine lipase (LPL)., expected results english : In the short term, anticipated outcomes will be strengthened collaborations across industry, academia, and government to support research excellence. In the medium term, anticipated outcomes will be the development of new and potentially disruptive technologies with collaborators. In the long term, find collaborative solutions to public policy challenges and create stronger innovation systems., expected results french : À court terme, les résultats prévus seront des collaborations renforcées entre l'industrie, le milieu universitaire et le gouvernement pour soutenir l'excellence en recherche. À moyen terme, les résultats attendus seront le développement de nouvelles technologies potentiellement perturbatrices avec des collaborateurs. À long terme, trouver des solutions collaboratives aux défis des politiques publiques et créer des systèmes d'innovation plus solides., additional information english : This agreement has been amended 1 time(s) the total amended value is $215,193.The end date of this agreement has been modified by 975 days., additional information french : Cet accord a été modifié 1 fois la valeur totale des modifications est de 215,193$. La date de fin du présent accord a été changé de 975 jours., owner organization : nrc-cnrc, owner organization title : National Research Council Canada | Conseil national de recherches Canada