Characterization of the Methylation Profile of Stored Human Samples (DNAmetCRB)
Characterization of the Methylation Profile of Samples Stored at the Biological Resource Center (CRB) of the Rizzoli Orthopedic Institute (IOR)
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.
Studieoversikt
Status
Studietype
Registrering (Faktiske)
Kontakter og plasseringer
Studiesteder
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BO
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Bologna, BO, Italia, 40136
- IRCCS Istituto Ortopedico Rizzzoli
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Deltakelseskriterier
Kvalifikasjonskriterier
Alder som er kvalifisert for studier
- Barn
- Voksen
- Eldre voksen
Tar imot friske frivillige
Prøvetakingsmetode
Studiepopulasjon
Beskrivelse
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
Studieplan
Hvordan er studiet utformet?
Designdetaljer
Kohorter og intervensjoner
Gruppe / Kohort |
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inflammatory/degenerative diseases
inflammatory articular diseases (blood)
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rare diseases
Rare bone diseases (Blood, tissue)
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sarcomas
sarcomas of bones and cartilage (tissue)
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Hva måler studien?
Primære resultatmål
Resultatmål |
Tiltaksbeskrivelse |
Tidsramme |
|---|---|---|
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methylation profiles
Tidsramme: 5 months
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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.
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5 months
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Sekundære resultatmål
Resultatmål |
Tiltaksbeskrivelse |
Tidsramme |
|---|---|---|
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Fairyfication of methilation profiles
Tidsramme: 5 months
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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)
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5 months
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Samarbeidspartnere og etterforskere
Sponsor
Publikasjoner og nyttige lenker
Generelle publikasjoner
- 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.
- 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.
- Hammaker D, Firestein GS. Epigenetics of inflammatory arthritis. Curr Opin Rheumatol. 2018 Mar;30(2):188-196. doi: 10.1097/BOR.0000000000000471.
- 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.
- 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.
Studierekorddatoer
Studer hoveddatoer
Studiestart (Faktiske)
Primær fullføring (Faktiske)
Studiet fullført (Faktiske)
Datoer for studieregistrering
Først innsendt
Først innsendt som oppfylte QC-kriteriene
Først lagt ut (Faktiske)
Oppdateringer av studieposter
Sist oppdatering lagt ut (Faktiske)
Siste oppdatering sendt inn som oppfylte QC-kriteriene
Sist bekreftet
Mer informasjon
Begreper knyttet til denne studien
Nøkkelord
Ytterligere relevante MeSH-vilkår
Andre studie-ID-numre
- 150/2025/TESS/IOR
Plan for individuelle deltakerdata (IPD)
Planlegger du å dele individuelle deltakerdata (IPD)?
Legemiddel- og utstyrsinformasjon, studiedokumenter
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