Characterization of the Methylation Profile of Stored Human Samples

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.

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Key information

Conditions

Rare Disorders Inflammatory Articular Diseases Neoplasms Neoplasms by Histologic Type Neoplasms, Bone Tissue Neoplasms, Connective Tissue Neoplasms, Connective and Soft Tissue Osteosarcoma Sarcoma Sarcoma of Bone and Connective Tissue

Sex eligibility

All sexes

Study type

Observational

Primary location

IRCCS Istituto Ortopedico Rizzzoli

Bologna, BO, 40136, Italy

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Primary outcomes

methylation profiles

Time frame: 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 outcomes

Fairyfication of methilation profiles

Time frame: 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)

Sponsors and collaborators

Lead sponsor

Istituto Ortopedico Rizzoli

Other

Registry information

Official study title

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

Acronym: DNAmetCRB

Important dates

Study start: 2025
Primary completion: 2025
Study completion: 2025
First posted: May 7, 2026
Registry last updated: May 7, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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