Paving: Gene therapy in haemophilia
Haemophilia is a rare genetic bleeding disorder occurring in 1 of 10 000 births. Haemophilia A is caused by an error in the gene for coagulation factor VIII (FVIII) and haemophilia B is caused by an error in the gene for coagulation factor IX (FIX). These errors cause patients to bleed for a longer time compared to people with the correct gene.
Bleeds can occur after injuries in mild and moderate haemophilia, but can also occur spontaneously in severe haemophilia. Bleeding can also occur in joints, where it causes joint swelling, pain, stiffness and immobility. Today, haemophilia treatment is based on increasing coagulation factor concentrations through factor replacement therapy to prevent and treat bleeds.
The invasiveness of intravenous injection and the high administration frequency results in a high burden of treatment. Recently, gene therapy for the treatment of haemophilia has been developed. Clinical trial results are promising and gene therapy may be able to cure patients. However, multiple challenges remain. These challenges mainly relate to the fact that it is currently still unknown whether the therapeutic effect of gene therapy will be maintained throughout the full lifespan of patients, and what side effects may occur in the long run.
In the Patient preferences to Assess Value IN Gene therapies (PAVING) case study, we will look at how features of the standard therapy and gene therapy influence patients’ choices between these therapies.
van Overbeeke E, Hauber B, Michelsen S, Goldman M et al. Patient Preferences to Assess Value IN Gene Therapies: Protocol Development for the PAVING Study in Hemophilia, Frontiers in Medicine, 9 March 2021
Van Overbeeke E, PAVING the way: Patient preferences to Assess Value in Gene therapies, PhD thesis, KU Leuven
Van Overbeeke E, Michelsen S, Hauber B, Peerlinck K, Harmans C, Lambert C, Goldman M, Simoens S, Huys I, Patient perspectives regarding gene therapy in haemophilia: Interviews from the PAVING study, Haemophilia, 2020;00:1–8.
|Study led by||KU Leuven|
|Prefer leads team||Eline van Overbeeke
|MPLC decision point of interest||HTA/reimbursement|
|PREFER case study acronym||KUL - PAV|
|Clinical objectives||Identify attributes of gene therapy and standard of care that are important to patients
Understand trade-offs that patients make when choosing between gene therapy and standard of care
|Methods in Qualitative Study||Semi-structured interviews|
|Methods in Quantitative study||Threshold technique|
|End-date qualitative data collection||September 2019|
|End-date quantitative data collection||May 2020|