Clinical trial · Observational
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)
- Source
- ClinicalTrials.gov
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CLINICALTRIALS-20260908-000001
Summary
Brief summary (as posted)
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
Conditions (3)
Free-text conditions as registered, with the CancerIndex entity they were reconciled to and the match type.
| Condition (as posted) | Mapped entity | Match | Confidence |
|---|---|---|---|
| Inflammatory Articular Diseases | — | UNRESOLVED | — |
| Rare Disorders | — | UNRESOLVED | — |
| Sarcoma of Bone and Connective Tissue | Osteosarcoma | PROBABILISTIC | 0.70 |
Interventions
Interventions (0)
Data not yet available
Design
Arms and outcomes
Arms (3)
- label
- inflammatory/degenerative diseases
- description
- inflammatory articular diseases (blood)
- label
- rare diseases
- description
- Rare bone diseases (Blood, tissue)
- label
- sarcomas
- description
- sarcomas of bones and cartilage (tissue)
Primary outcomes (1)
- measure
- methylation profiles
- timeFrame
- 5 months
- description
- 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 (1)
Eligibility
Eligibility (as posted)
- Sex
- All
Show eligibility criteria text
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
References
Publications (5)
- BACKGROUNDVelasco 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
- BACKGROUNDGu 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
- BACKGROUNDHammaker D, Firestein GS. Epigenetics of inflammatory arthritis. Curr Opin Rheumatol. 2018 Mar;30(2):188-196. doi: 10.1097/BOR.0000000000000471. PMID 29194108
- BACKGROUNDHageman 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
- BACKGROUNDde 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