Congenital ichthyoses comprise a group of rare inherited scaling disorders of the skin. They vary from mild localized scaling and dryness of skin to life-threatening scaling and erythroderma, with or without extra-cutaneous symptoms. Mutations in many different genes are involved.
Ichthyosis is a rare disease and incurable. However, more targeted therapies such as protein replacement, gene editing and gene therapy are being developed for many genodermatoses, including Ichthyosis. Different interventions and treatments have their own/specific benefits and risks. Comparing the results from these studies is complicated due to the use of different baseline and study characteristics and also because of differences in reported study outcomes. In order to be able to compare study results and to allow pooling of data, uniform reporting of study characteristics and of outcomes (core outcome set, COS) are needed.
A. Gostynski,
J. Mazereeuw-Hautier
V. Rossel
Disease Category: Skin
Disease Name: Ichthyosis
Age Range: 0 - 120
Sex: Either
Nature of Intervention:
- Charities
- Clinical experts
- Methodologists
- Patient/ support group representatives
- Researchers
- COS for practice
- COS for clinical trials or clinical research
- Consensus meeting
- Delphi process
- Focus group(s)
- Interview
- Literature review
- Semi structured discussion
- Systematic review
A stepwise approach will be used according to the COMET handbook, with some slight amendments. First we will conduct a systematic review to identify study characteristic items and outcomes. Meanwhile, several stakeholders groups will be approached for participation in this study, including patient group representatives (lay experts), medical professionals (e.g. dermatologists, paediatric dermatologists and paediatricians) and researchers with focus on ichthyosis. All outcomes and variables as identified in the literature search and identified by expert and patient opinion, will be presented in a Delphi survey. On average, three rounds are needed to reach consensus . After the third round, there will be a final consensus meeting.