Patient experience survey on the impact of an ultra-rare disease (Familial chylomicronemia syndrome) caused by severe genetic hypercholesterolemia for healthcare professionals and public authorities (ANSM, HAS)
Objective:
- Understand the epidemiology of the disease, current diagnosis and therapeutic practice in management of the FCS (from diagnosis to treatment)
- Assess the medical impact of the disease on the quality of life by comparing monogenic homozygotes or compound heterozygotes called FCS vs oligo or polygenic forms called MCS
Timescale:
6 months (from the beginning of the survey to the final report)
Methods:
- In the first instance, all French hospitals with a capacity of 300 inpatient beds or more have been sounded out in order to evaluate the total population (average participation rate: 94%)
- Secondly, a patient survey has been carried out by mail and internet (survey population: all identified patients)
Results:
- Exceptionally high participation rate (every other identified patient replied)
- Statistical demonstration of the impact of the disease in absence of therapy and demonstration of the unmet medical need in terms of treatment and support
- Promotion of patient voice
