Tokyo, Oct. 22 -- UMIN Clinical Trials Registry (UMIN-CTR) received information related to the study (UMIN000059483) titled 'Deciphering the pathogenesis of skin disorders driven by genetic alterations via multi-omics analysis' on Oct. 21.

Study Type: Observational

Primary Sponsor: Institute - Kobe University

Condition: Condition - genodermatoses Classification by malignancy - Others Genomic information - YES

Objective: Narrative objectives1 - Patients will include: (i) monogenic disorders that manifest with cutaneous symptoms; (ii) conditions for which a genetic background or predisposition is scientifically considered likely to contribute to disease onset; (iii) conditions for which acquired (somatic) genetic changes are scientifically considered likely to contribute to disease onset; and (iv) undiagnosed disorders with cutaneous manifestations in which a genetic predisposition is inferred but the phenotype does not match any known entity. In these patients, we will comprehensively interrogate congenital (germline) and acquired (somatic) genetic alterations, as well as lesion-specific somatic changes in gene expression, using a suite of multi-omics technologies, including whole-exome sequencing (WES), whole-genome sequencing (WGS), targeted exome sequencing, transcriptome (RNA-seq) analysis, SNP array genotyping, EPIC methylation array analysis, ATAC-seq, single-cell analyses, mass-spectrometry-based proteomics, lipidomics, and exosome analyses, with the primary objective of identifying the genetic alterations that underlie disease onset. Basic objectives2 - Others

Eligibility: Age-lower limit - Not applicable Age-upper limit - Not applicable Gender - Male and Female Key inclusion criteria - Patients (and their relatives) diagnosed with any of the following conditions that manifest with symptoms involving the skin, including cutaneous adnexa (nails, hair, teeth) and mucosa (e.g., lips, oral cavity): (i) monogenic disorders; (ii) conditions for which a genetic background/predisposition is scientifically considered likely to contribute to disease onset; (iii) conditions for which acquired (somatic) genetic changes are scientifically considered likely to contribute to disease onset; (iv) undiagnosed disorders with cutaneous manifestations in which a genetic predisposition is inferred but the phenotype does not match any known disease. Key exclusion criteria - (1) Patients with dementia or psychiatric disorders requiring treatment, or patients in a comatose state. (2) Patients whom the principal investigator judges to be unsuitable for inclusion in this study. Target Size - 3600

Recruitment Status: Recruitment status - Open public recruiting Date of protocol fixation - 2023 Year 04 Month 17 Day Date of IRB - 2023 Year 04 Month 21 Day Anticipated trial start date - 2023 Year 04 Month 21 Day Last follow-up date - 2032 Year 12 Month 31 Day

To know more, visit https://center6.umin.ac.jp/cgi-open-bin/ctr_e/ctr_view.cgi?recptno=R000068035

Disclaimer: Curated by HT Syndication.