Fibrous Dysplasia: An Epidemiological and Correlational Evaluation of Multimodal Data

Recruiting now

Conditions studied: Fibrous Dysplasia, Fibrous Dysplasia of Bone, Fibrous Dysplasia/McCune-Albright Syndrome, Mazabraud Syndrome

In brief

Fibrous dysplasia is a benign, pseudotumoral, genetic but non-hereditary condition characterized by the presence of one or more areas of abnormal bone development in which the normal structure is replaced by fibrous tissue. It is an extremely heterogeneous condition, as it can be monostotic, polyostotic, or panostotic, or it may occur within the context of more complex syndromes such as McCune-Albright syndrome (in which polyostotic fibrous dysplasia is associated with café-au-lait spots and precocious puberty) or Mazabraud syndrome (in which intramuscular myxomas are present). This condition is caused by post-zygotic missense mutations, so it is never hereditary, and the affected individual will constitute a so-called "genetic mosaic," a fact that explains the wide variability in the localization of the pathological areas. The mutations in question occur in a gene (GNAS) located on chromosome 20 (20q13.2-13.3); this gene encodes a G protein with GTPase activity, the function of which is consequently impaired. The aim of this study is to evaluate in detail the characteristics of the patients, their hospitalizations, and related interventions. Given the rarity of the condition, such investigations are often conducted on very limited datasets. The present study is expected to include over 200 patients, providing a comprehensive picture. An additional aim is to assess the impact of somatic mutations in the GNAS gene and their impact in terms of clinical manifestations.

Key facts

Study ID

NCT07569731

Run by

Istituto Ortopedico Rizzoli

People needed

200

Starts

2022-05-12

Expected to finish

2026-06-30

Last updated by the study team

2026-05-12

Who can join

Age: any. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• 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

You may not qualify if…

• Patients who do not meet the inclusion criteria

Where it is running

• IRCCS Istituto Ortopedico Rizzoli — Bologna, BO, Italy (enrolling)

Full record on ClinicalTrials.gov

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