Patterns and links in fibrous dysplasia, McCune‑Albright, and Mazabraud cases
Fibrous Dysplasia: An Epidemiological and Correlational Study of Anthropometric, Clinical, Treatment, and Genetic Data
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 |
|---|---|
| Enrollment | 200 (estimated) |
| Sex | All |
| Sponsor | Istituto Ortopedico Rizzoli Academic / other |
| Locations | 1 site (Bologna, BO) |
| Trial ID | NCT07569731 on ClinicalTrials.gov |
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.
Who should consider this trial
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.
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.
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 performed: 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.
Eligibility criteria
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 this trial is running
Bologna, BO
- IRCCS Istituto Ortopedico Rizzoli — Bologna, Bo, Italy (Recruiting)
Study contacts
- Study coordinator: Luca Sangiorgi, MD, PhD, MSc
- Email: luca.sangiorgi@ior.it
- Phone: +390516366342
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.