Characterization of the Methylation Profile of Stored Human Samples

NCT07573072 | Completed

• 1 other identifier: 150/2025/TESS/IOR
• Study Type: observational
• Target: 90
• Locations: 1 country
• Sites: 1

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.

Conditions

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

Keywords

methylation; biobanking

Outcome Measures

Primary Outcomes (1)

• methylation profiles

  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.

  5 months

Secondary Outcomes (1)

• Fairyfication of methilation profiles

  5 months

Study Arms (3)

inflammatory/degenerative diseases

inflammatory articular diseases (blood)

rare diseases

Rare bone diseases (Blood, tissue)

sarcomas

sarcomas of bones and cartilage (tissue)

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

patients affected by a rare skeletal disorder, sarcoma, or inflammatory arthritis.

You may qualify if:

• 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.

You may not qualify if:

• 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

Sponsors & Collaborators

• Istituto Ortopedico Rizzoli: lead

Study Sites (1)

IRCCS Istituto Ortopedico Rizzzoli

Bologna, BO, 40136, Italy

Location

Related Publications (5)

• Velasco G, Francastel C. Genetics meets DNA methylation in rare diseases. Clin Genet. 2019 Feb;95(2):210-220. doi: 10.1111/cge.13480. Epub 2018 Dec 18.

  PMID: 30456829 BACKGROUND

• Gu M, Ren B, Fang Y, Ren J, Liu X, Wang X, Zhou F, Xiao R, Luo X, You L, Zhao Y. Epigenetic regulation in cancer. MedComm (2020). 2024 Feb 19;5(2):e495. doi: 10.1002/mco2.495. eCollection 2024 Feb.

  PMID: 38374872 BACKGROUND

• Hammaker D, Firestein GS. Epigenetics of inflammatory arthritis. Curr Opin Rheumatol. 2018 Mar;30(2):188-196. doi: 10.1097/BOR.0000000000000471.

  PMID: 29194108 BACKGROUND

• Hageman I, Mol F, Atiqi S, Joustra V, Sengul H, Henneman P, Visman I, Hakvoort T, Nurmohamed M, Wolbink G, Levin E, Li Yim AYF, D'Haens G, de Jonge WJ. Novel DNA methylome biomarkers associated with adalimumab response in rheumatoid arthritis patients. Front Immunol. 2023 Dec 22;14:1303231. doi: 10.3389/fimmu.2023.1303231. eCollection 2023.

  PMID: 38187379 BACKGROUND

• de la Calle-Fabregat C, Niemantsverdriet E, Canete JD, Li T, van der Helm-van Mil AHM, Rodriguez-Ubreva J, Ballestar E. Prediction of the Progression of Undifferentiated Arthritis to Rheumatoid Arthritis Using DNA Methylation Profiling. Arthritis Rheumatol. 2021 Dec;73(12):2229-2239. doi: 10.1002/art.41885. Epub 2021 Nov 2.

  PMID: 34105306 BACKGROUND

Biospecimen

Retention: SAMPLES WITH DNA

blood, tissue

MeSH Terms

Conditions

Osteosarcoma

Condition Hierarchy (Ancestors)

Neoplasms, Bone Tissue; Neoplasms, Connective Tissue; Neoplasms, Connective and Soft Tissue; Neoplasms by Histologic Type; Neoplasms; Sarcoma

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: coordinator of CRB

Study Record Dates

• First Submitted: April 24, 2026
• First Posted: May 7, 2026
• Study Start: March 28, 2025
• Primary Completion: July 22, 2025
• Study Completion: July 22, 2025
• Last Updated: May 7, 2026

Record last verified: 2026-05

Data Sharing

• IPD Sharing: Will not share

Locations

IT (1)