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EpiSign International: Expanding Epigenomic Testing in Rare Disease
Sponsor: University of Manchester
Summary
The purpose of this study is to assess the utility of EpiSign software and an integrated DNA methylation and copy number variant (CNV) microarray technology in helping to diagnose individuals with rare diseases. EpiSign is a proprietary technology developed by EpiSign Inc. that uses DNA methylation patterns as biomarkers for rare diseases, including genetic disorders and conditions associated with environmental exposures. DNA methylation microarrays measure DNA methylation levels at specific locations across the genome. CNV microarray technology uses a similar approach to identify gains or losses of DNA. CNV microarray analysis is an established methodology used in the diagnosis of rare diseases. The first phase of the study will assess the utility of EpiSign analysis using standard EPIC DNA methylation microarrays as part of the diagnostic assessment of individuals with suspected rare diseases. The second phase will assess the utility of EpiSign analysis using newly developed integrated EPIC/CNV microarrays and evaluate the technical performance of these microarrays in detecting CNVs, as part of the diagnostic assessment of individuals with suspected rare diseases. Patients with suspected rare diseases will be recruited from Manchester University NHS Foundation Trust. Participants will provide a blood sample, which will be used to analyse their DNA methylation profile and detect CNVs. The study is expected to last approximately 24 months from study initiation.
Official title: EpiSign International: Health System Impact Assessment and Expanding Clinical Utilization of Epi/Genomic Testing in Rare Diseases and Beyond
Key Details
Gender
All
Age Range
Any - Any
Study Type
OBSERVATIONAL
Enrollment
192
Start Date
2026-10-01
Completion Date
2029-12-31
Last Updated
2026-09-24
Healthy Volunteers
No
Interventions
Integrated EPIC/CNV microarray with EpiSign analysis
Participants will undergo analysis using a newly developed integrated EPIC/CNV microarray capable of measuring genome-wide DNA methylation and detecting copy number variations from a single array. DNA methylation data will be analysed using EpiSign software to identify disease-associated episignatures. CNV data will be analysed to assess the technical performance and analytical yield of the integrated microarray for CNV detection. The study will also assess the potential utility of combining DNA methylation and CNV analysis within a single diagnostic assay.
EpiSign analysis with EPIC DNA methylation microarray
Participants will undergo genome-wide DNA methylation analysis using the standard Illumina EPIC DNA methylation microarray. The resulting DNA methylation data will be analysed using EpiSign software to identify disease-associated DNA methylation episignatures. EpiSign results will be assessed alongside clinical and genetic information to determine the additional diagnostic yield and clinical utility of EpiSign analysis in patients with suspected rare disease.
Locations (1)
Manchester Centre for Genomic Medicine, 6th Floor, St Mary's Hospital, Oxford Road
Manchester, UK, United Kingdom