NCT07569731 Fibrous Dysplasia: An Epidemiological and Correlational Evaluation of Multimodal Data
| NCT ID | NCT07569731 |
| Status | Recruiting |
| Phase | — |
| Sponsor | Istituto Ortopedico Rizzoli |
| Condition | Fibrous Dysplasia |
| Study Type | OBSERVATIONAL |
| Enrollment | 200 participants |
| Start Date | 2022-05-12 |
| Primary Completion | 2026-06-30 |
Eligibility & Interventions
Eligibility Fast-Check
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What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 200 participants in total. It began in 2022-05-12 with a primary completion date of 2026-06-30.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
Brief Summary
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.
Eligibility 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
Contact & Investigator
Frequently Asked Questions
Who can join the NCT07569731 clinical trial?
This trial is open to participants of all sexes, studying Fibrous Dysplasia. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT07569731 currently recruiting?
Yes, NCT07569731 is actively recruiting participants. Contact the research team at luca.sangiorgi@ior.it for enrollment information.
Where is the NCT07569731 trial being conducted?
This trial is being conducted at Bologna, Italy.
Who is sponsoring the NCT07569731 clinical trial?
NCT07569731 is sponsored by Istituto Ortopedico Rizzoli. The trial plans to enroll 200 participants.