Fibrous Dysplasia, Fibrous Dysplasia/McCune-Albright Syndrome, Fibrous Dysplasia of Bone, Mazabraud Syndrome
Conditions
Keywords
Fibrous Dysplasia, McCune-Albright Syndrome, Mazabraud Syndrome, Surgical procedures, GNAS, Pain
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.
Interventions
None listed
Sponsors
Istituto Ortopedico Rizzoli
Study design
Observational model
COHORT
Time perspective
RETROSPECTIVE
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Description of surgical procedures | 4 years | Analyze the correlation between the reason for hospitalization (e.g. pain, fractures, etc.), the resulting type of procedure (categorized surgical procedures), and the patients' characteristics considering age (years), sex (male or female), lesion dimension (in cm). |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Description of clinical features of Fibrous Dysplasia patients | 4 years | Describe natural history of patients affected by Fibrous Dysplasia, McCune-Albright syndorme and Mazabraud syndrome |
| Genotype-phenotype correlation | 4 years | Identification of somatic pathogenic variants (described using HGMD) and genotype-phenotype correlation of molecular data with available clinical information |
| Number and types of post-interventions complications and pain | 4 years | To analyze the number and types of complications following surgeries (e.g. additional surgery, functional limitations) for fibrous dysplasia and to assess the impact of surgery on long bones in terms of pain (presence/absence) |
Countries
Italy
Contacts
CONTACTLuca Sangiorgi, MD, PhD, MSc
Outcome results
None listed