MedTrace Logo

Multi-Dimensional Genomic Dissection of Ring Chromosome 14 Syndrome

NCT06813469 · Status: ACTIVE_NOT_RECRUITING · Phase: NA · Type: INTERVENTIONAL · Enrollment: 15

Last updated 2025-02-07

No results posted yet for this study

Summary

MD-RING will explore the hypothesis that position effects and TAD alterations act as an unprecedented pathomechanism in r(14)S. This will contribute to a better understanding of genotype-to-phenotype correlations, creating an important scientific resource for the study of this and other ring syndromes, with the ultimate objective to offer improved family counseling , patient care and to identify potential new therapeutic options.

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

Sponsors & Collaborators

  • IRCCS Azienda Ospedaliero-Universitaria di Bologna

    lead OTHER

Principal Investigators

  • Tommaso Pippucci, Biologist · IRCCS Azienda Ospedaliero-Universitaria di Bologna

Study Design

Allocation
NA
Purpose
OTHER
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Min Age
28 Days
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2023-12-15
Primary Completion
2025-03-15
Completion
2025-03-15

Countries

  • Italy

Study Locations

More Related Trials

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT06813469 on ClinicalTrials.gov