Patterns and links in fibrous dysplasia, McCune‑Albright, and Mazabraud cases
Official title: Fibrous Dysplasia: An Epidemiological and Correlational Study of Anthropometric, Clinical, Treatment, and Genetic Data
Run by Istituto Ortopedico Rizzoli · NCT07569731 · Data updated 2026-11-12
This project collects clinical records, imaging, and tumor tissue from people with fibrous dysplasia, McCune‑Albright, or Mazabraud syndrome to see if specific genetic and radiologic patterns link with symptoms and outcomes.
Quick facts
| Study type | Observational |
|---|---|
| Sex | All |
| Enrollment | 200 (estimated) |
| Sponsor | Istituto Ortopedico Rizzoli Academic / other |
| Locations | 1 site (Bologna, BO) |
| Status | Recruiting |
| Started | May 12, 2022 |
| Main results expected | January 30, 2027 |
| Study ends | June 30, 2027 |
| Registry record updated | November 5, 2026 |
| Trial ID | NCT07569731 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
People diagnosed with fibrous dysplasia, McCune‑Albright syndrome, or Mazabraud syndrome who have clinical and radiologic records plus tumor tissue stored at IOR (including cases from 2009 onward) are ideal candidates.
✕Probably not a fit
Patients without accessible clinical/radiologic records or without tumor tissue available in the IOR biobank, or those without one of the listed diagnoses, are unlikely to benefit or be included.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This is a single‑center observational project at IRCCS Istituto Ortopedico Rizzoli that retrospectively and prospectively assembles clinical, radiologic, histologic, and biobanked tumor tissue from patients with fibrous dysplasia and related syndromes. The team will correlate multimodal data including imaging features and GNAS mutation status to identify patterns that explain clinical heterogeneity. Inclusion emphasizes availability of clinical and radiological data collected during care at the IOR and sufficient tumor tissue in the biobank, including retrospective cases from 2009 onward. No interventional treatments are administered as part of the protocol; analyses are intended to refine diagnosis, prognosis, and surgical planning insights.
Why it matters
Potential benefit: If successful, the findings could help clinicians better predict disease course and personalize follow-up or surgical decisions using combined genetic and imaging markers.
How similar studies have gone: Previous research has established post‑zygotic GNAS mutations as the cause of fibrous dysplasia and smaller cohorts have linked genotype with phenotype, but comprehensive single‑center multimodal correlation datasets remain limited.
Who can join: the full rules
Show full inclusion / exclusion criteria
Inclusion Criteria: * All patients affected by Fibrous Dysplasia, McCune-Albright syndrome and Mazabraud syndrome (retrospectively included from 2009) * Availability of clinical and radiological data collected during their recovery at the IOR * Availability of tumor tissue in the biobank in sufficient quantity and quality Exclusion Criteria: * Patients who do not meet the inclusion criteria
Where it's running
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IRCCS Istituto Ortopedico Rizzoli
Bologna, Bo, Italy Recruiting
Study contacts
- Study coordinator: Luca Sangiorgi, MD, PhD, MSc
- Email: luca.sangiorgi@ior.it
- Phone: +390516366342
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How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.