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.

Fact sheet

Therapeutic area Haemophilia
Study led by KU Leuven
Prefer leads team Eline van Overbeeke
Isabelle Huys
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
Patients from Belgium
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