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- Presentation
The Registry for Ichthyosis and Related Skin Types: Enabling New Research in Epidermal Differentiation Disorders
Description
The presentation provides updates from the Registry for Ichthyosis and Related Skin Types, focusing on advancements in genetic diagnosis and research for epidermal differentiation disorders. The speaker, an investigator and consultant, reflects on the evolution of their work from initial blood sampling at meetings to establishing a pop-up clinic for patients where they receive expert guidance and take part in research. The registry now includes around 1800 kindreds, and the team has successfully returned genetic diagnoses for many participants. Efforts have moved towards comprehensive phenotyping, mutation screening, and genomic sequencing, contributing to a genotyped and phenotyped cohort primed for clinical trials. Noteworthy findings include the identification of mutations in the SLURP1 gene, leading to new understandings of specific ichthyosis-related disorders and potential treatment targets. The speaker calls for greater participation in the registry, emphasizing its role in advancing research and clinical care. Additionally, a new clinical trial for Haley-Haley disease is highlighted, showcasing promising results with treatment using biologic agents. Overall, the talk underscores the importance of collaboration in the ongoing pursuit of better outcomes for patients with ichthyosis and related conditions.
View moreConclusions
- The registry for ichthyosis has successfully engaged 1800 kindreds to provide genetic diagnosis and phenotypic data for epidermal differentiation disorders.
- Genetic testing has identified mutations in known genes in about 85% of patients, while 15% still present unknown mutations that offer opportunities for research.
- The majority of patients tested have mutations in expected genes, but a notable percentage have mutations in less common genes.
- Recent findings indicated that mutations in the SLURP1 gene are associated with two distinct phenotypes: progressive symmetric erythrokeratoderma (PSEK) and palmoplantar keratoderma (PPK).
- These mutations alter protein secretion signals, leading to significant differences in clinical manifestations.
- Patients with SLURP1 mutations show increased secretion of the protein, which ties into signaling pathways associated with inflammation, specifically NF-kB.
- A new clinical trial for Hailey-Hailey disease using IL-23 inhibitors shows promising results, indicating an opportunity for effective treatment.
- The registry is positioned to facilitate future clinical trials and serves as a resource for ongoing research in the field.
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