Rare DisordersDNAmetCRBNCT07573072
Characterization of the Methylation Profile of Stored Human Samples
An observational study of Rare Disorders and Sarcoma of Bone and Connective Tissue, run by Istituto Ortopedico Rizzoli at 1 site in Italy.
Trial 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). Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Rare Disorders, Sarcoma of Bone and Connective Tissue, Inflammatory Articular Diseases
- How many people
- 90 participants
- Where
- 1 siteItaly
- Study dates
- 28 Mar 2025to 22 Jul 2025
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: patients affected by a rare skeletal disorder, sarcoma, or inflammatory arthritis.
Who may be able to join
- 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.
Who cannot join
- 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
Trial locations and contacts
1 site in 1 country.
About this study
Official title: 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.
- Keywords
- methylation, biobanking
- Medical subject headings
- Osteosarcoma
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| inflammatory/degenerative diseases | inflammatory articular diseases (blood) | |
| rare diseases | Rare bone diseases (Blood, tissue) | |
| sarcomas | sarcomas of bones and cartilage (tissue) |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 5 months
Secondary outcomes (1)
Fairyfication of methilation profiles
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)
Measured: 5 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted7 May 2026
- Study start28 Mar 2025
- Primary completion22 Jul 2025
- Study completion22 Jul 2025
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (5)Papers the sponsor has linked to this study.
- Other trials for Rare DisordersStudies of the same condition, open and under way.
- More trials run by Istituto Ortopedico RizzoliThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Retrospective
- Enrolment
- 90 participants (actual)
Sponsor and investigators
- Lead sponsor
- Istituto Ortopedico Rizzoli
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Luca Sangiorgi, Istituto Ortopedico Rizzoli
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07573072
- Sponsor's protocol ID
- 150/2025/TESS/IOR
- Acronym
- DNAmetCRB
- Status last verified
- May 2026
- First submitted
- 24 Apr 2026
- Last updated
- 7 May 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Publications
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.
PubMed 30456829Gu 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.
PubMed 38374872Hammaker D, Firestein GS. Epigenetics of inflammatory arthritis. Curr Opin Rheumatol. 2018 Mar;30(2):188-196. doi: 10.1097/BOR.0000000000000471.
PubMed 29194108Hageman 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.
PubMed 38187379de 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.
PubMed 34105306
Study at a glance
From the registry record, last updated by the sponsor on 7 May 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Characterization of the Methylation Profile of Samples Stored at the Biological Resource Center (CRB) of the Rizzoli Orthopedic Institute (IOR)
- ClinicalTrials.gov ID
- NCT07573072
- Acronym / sponsor ID
- DNAmetCRB / 150/2025/TESS/IOR
- Keywords
- methylation, biobanking
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 90 participants (actual)
- Lead sponsor
- Istituto Ortopedico RizzoliUniversity, hospital or other
- Study start
- 28 Mar 2025 (actual)
- Primary completion
- 22 Jul 2025 (actual)
- Study completion
- 22 Jul 2025 (actual)
- First posted
- 7 May 2026 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Retrospective
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| inflammatory/degenerative diseases | – | –inflammatory articular diseases (blood) |
| rare diseases | – | –Rare bone diseases (Blood, tissue) |
| sarcomas | – | –sarcomas of bones and cartilage (tissue) |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- patients affected by a rare skeletal disorder, sarcoma, or inflammatory arthritis.
Key inclusion criteria (2 listed)
- 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.
Key exclusion criteria (2 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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.
1 secondary outcome
Fairyfication of methilation profiles
Time frame: 5 months
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 7 May 2026.
- Background: PubMed 30456829Velasco 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.
- Background: PubMed 38374872Gu 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.
- Background: PubMed 29194108Hammaker D, Firestein GS. Epigenetics of inflammatory arthritis. Curr Opin Rheumatol. 2018 Mar;30(2):188-196. doi: 10.1097/BOR.0000000000000471.
- Background: PubMed 38187379Hageman 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.
- Background: PubMed 34105306de 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.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Rare Disorders and Sarcoma of Bone and Connective Tissue, run by Istituto Ortopedico Rizzoli at 1 site in Italy.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 7 May 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Italy. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
methylation profiles (time frame: 5 months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT07573072, which also lists 5 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 7 May 2026.