Trials Sponsors Conditions Drugs Pricing

Conditions

Ring 14

Keywords

Ring14 Syndrome

Outcome Measures

Primary Outcomes (1)

LRS analysis of SVs occurring on chromosome 14
1. Resolving the sequence breakpoints of structural ring rearrangement in patients with r(14)S. 2. Construct a 3D cell-specific molecular signature of r(14)S patients. 3. Identify regulatory mechanisms that are important in the pathophysiology of r(14)S.
8 months

Secondary Outcomes (1)

Genotype-phenotype correlations based on the impact of the degree of mosaicism r(14) on the ability to identify Hi-C features.
8 months

Study Arms (1)

Lymphoblastoid Cell Lines (LCLs)

OTHER

10 LCLs from r(14)S patients without other cytogenetic alterations were selected, as well as 5 LCLs from parents without cytogenetic alterations

Genetic: LRS analysis

Interventions

LRS analysisGenetic

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

Lymphoblastoid Cell Lines (LCLs)

Registry-reported names are shown in full. Names without a link have not yet been matched to a Syfrah profile.

Eligibility Criteria

Age28 Days+

Sexall

Healthy VolunteersNo

Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

Ten LCLs of r(14)S patients with 14q deletions of varying position and extent in 70%, and monosomy 14 of varying degree in 60%.
Five LCLs of parents without cytogenetic alterations.

Sponsors & Collaborators

IRCCS Azienda Ospedaliero-Universitaria di Bologna
Otherlead

Study Sites (1)

IRCCS Azienda Ospedaliero-Universitaria di Bologna

Bologna, Bologna, 40138, Italy

MeSH Terms

Conditions

Ring Chromosome 14 Syndrome

Study Officials

Tommaso Pippucci, Biologist
IRCCS Azienda Ospedaliero-Universitaria di Bologna
PRINCIPAL INVESTIGATOR

Enrollment

15 participants (actual enrollment reported by the registry).

Study Design

Study Type: interventional
Phase: not applicable
Allocation: NA
Masking: NONE
Purpose: OTHER
Intervention Model: SINGLE GROUP
Sponsor Type: OTHER
Responsible Party: SPONSOR

Study Record Dates

First Submitted

November 28, 2024

First Posted

February 7, 2025

Study Start

December 15, 2023

Actual (reported)

Multi-Dimensional Genomic Dissection of Ring Chromosome 14 Syndrome

Brief Summary

Registry Overview

Trial Relationships

Study Timeline

Study Start

First Submitted

First Posted

Primary Completion

Study Completion

Conditions

Keywords

Outcome Measures

Primary Outcomes (1)

Secondary Outcomes (1)

Study Arms (1)

Lymphoblastoid Cell Lines (LCLs)

Interventions

Eligibility Criteria

You may qualify if:

Sponsors & Collaborators

Study Sites (1)

MeSH Terms

Conditions

Study Officials

Enrollment

Study Design

Study Record Dates

You may not qualify if:

Data Sharing

Source record

Locations

Brief Summary

Registry Overview

Trial Relationships

Related Scientific Literature

Study Timeline

Study Start

First Submitted

First Posted

Primary Completion

Study Completion

Conditions

Keywords

Outcome Measures

Primary Outcomes (1)

Secondary Outcomes (1)

Study Arms (1)

Lymphoblastoid Cell Lines (LCLs)

Interventions

Eligibility Criteria

You may qualify if:

Sponsors & Collaborators

Study Sites (1)

MeSH Terms

Conditions

Study Officials

Enrollment

Study Design

Study Record Dates

You may not qualify if:

Data Sharing

Source record

Locations