Characterization of the Methylation Profile of Stored Human Samples

Characterization of the Methylation Profile of Samples Stored at the Biological Resource Center (CRB) of the Rizzoli Orthopedic Institute (IOR)

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT07573072

Acronym

DNAmetCRB

Enrollment

Registered

2026-05-07

Start date

2025-03-28

Completion date

2025-07-22

Last updated

2026-05-07

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Inflammatory Articular Diseases, Rare Disorders, Sarcoma of Bone and Connective Tissue

Keywords

methylation, biobanking

Brief summary

The project, funded by the PNRR under Mission 4 "Education and Research," aims to strengthen the network of Italian biobanks by improving data management in accordance with the FAIR principles (Findable, Accessible, Interoperable, Reusable). The University of Trento has issued a call for proposals to support Italian biobanks in characterizing samples and expanding associated datasets using advanced technologies. The Biological Resource Center at the Rizzoli Orthopedic Institute in Bologna participated in this call for proposals, requesting funding to analyze the DNA methylation profiles of three patient cohorts: those with inflammatory/degenerative diseases, sarcomas, and rare genetic musculoskeletal disorders. This study will contribute to understanding the biological significance of methylation and exploring its diagnostic and therapeutic potential. The initiative aims to generate data useful for personalized medicine and improve the management of the diseases involved.

Interventions

None listed

Study design

Observational model

COHORT

Time perspective

RETROSPECTIVE

Eligibility

Sex/Gender

ALL

Healthy volunteers

Inclusion criteria

* Be a patient with a sample stored in one of the biobanks belonging to the CRB IOR * Have one of the following conditions: a rare skeletal disorder, sarcoma, or inflammatory arthritis.

Exclusion criteria

* Patients who have refused to consent to the use of their samples or the processing of their data for genetic studies * Patients who have refused to consent to the transfer of their samples outside the IOR

Design outcomes

Primary

Measure	Time frame	Description
methylation profiles	5 months	Detect the methylation profiles of a cohort of samples stored at the CRB (rare genetic diseases, sarcomas, inflammatory arthritis) to expand the dataset of samples held at the CRB-IOR.

Secondary

Measure	Time frame	Description
Fairyfication of methilation profiles	5 months	Fairyfication of data derived from methilation profiles to be linked to biological samples present on BBMRI catalogue. Data comprises desease (orphacode, ICD10), age (years month), sample type (blood, tissue, DNA), sample collection date (dd/mm/yyyy), gender (F, M), Informed Consent (mandatory)

Countries

Italy

Outcome results