Multi-Dimensional Genomic Dissection of Ring Chromosome 14 Syndrome

NAActive, not recruitingINTERVENTIONAL
Enrollment

15

Participants

Timeline

Start Date

December 15, 2023

Primary Completion Date

March 15, 2025

Study Completion Date

March 15, 2025

Conditions
Ring 14
Interventions
GENETIC

LRS analysis

Long Read Sequencing (LRS) and High-throughput chromosome conformation capture (Hi-C) analysis to explore and functionally characterize the r(14) event and its impact on the three-dimensional (3D) genomic architecture inside the cells of r(14)S patients

Trial Locations (1)

40138

IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna

All Listed Sponsors
lead

IRCCS Azienda Ospedaliero-Universitaria di Bologna

OTHER

NCT06813469 - Multi-Dimensional Genomic Dissection of Ring Chromosome 14 Syndrome | Biotech Hunter | Biotech Hunter