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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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| All patients affected by Fibrous Dysplasia, McCune-Albright syndorme and Mazabraud syndrome | All patients affected by Fibrous Dysplasia, McCune-Albright syndorme and Mazabraud syndrome with available clinical, radiological and surgical data | ||
| Fibrous Dysplasia, McCune-Albright syndrome patients with available tissue sample | All patients affected by Fibrous Dysplasia, McCune-Albright syndorme and Mazabraud syndrome with an available tissue biospecimens for molecular investigation |
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| Measure | Description | Time Frame |
|---|---|---|
| Description of surgical procedures | 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). | 4 years |
| Measure | Description | Time Frame |
|---|---|---|
| Description of clinical features of Fibrous Dysplasia patients | Describe natural history of patients affected by Fibrous Dysplasia, McCune-Albright syndorme and Mazabraud syndrome | 4 years |
| Genotype-phenotype correlation |
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Inclusion Criteria:
Exclusion Criteria:
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All consecutive patients affected by Fibrous Dysplasia, McCune-Albright syndrome and Mazabraud syndrome
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Luca Sangiorgi, MD, PhD, MSc | Contact | +390516366342 | luca.sangiorgi@ior.it |
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| IRCCS Istituto Ortopedico Rizzoli | Recruiting | Bologna | BO | 40136 | Italy |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 31196103 | Result | Javaid MK, Boyce A, Appelman-Dijkstra N, Ong J, Defabianis P, Offiah A, Arundel P, Shaw N, Pos VD, Underhil A, Portero D, Heral L, Heegaard AM, Masi L, Monsell F, Stanton R, Dijkstra PDS, Brandi ML, Chapurlat R, Hamdy NAT, Collins MT. Best practice management guidelines for fibrous dysplasia/McCune-Albright syndrome: a consensus statement from the FD/MAS international consortium. Orphanet J Rare Dis. 2019 Jun 13;14(1):139. doi: 10.1186/s13023-019-1102-9. | |
| 22640754 |
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The data are not publicly available due to privacy and/or ethical restrictions
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| ID | Term |
|---|---|
| D005357 | Fibrous Dysplasia of Bone |
| D005359 | Fibrous Dysplasia, Polyostotic |
| D010146 | Pain |
| ID | Term |
|---|---|
| D010009 | Osteochondrodysplasias |
| D001848 | Bone Diseases, Developmental |
| D001847 | Bone Diseases |
| D009140 | Musculoskeletal Diseases |
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Bone Tissue
Identification of somatic pathogenic variants (described using HGMD) and genotype-phenotype correlation of molecular data with available clinical information
| 4 years |
| Number and types of post-interventions complications and pain | 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) | 4 years |
| Result |
| Stanton RP, Ippolito E, Springfield D, Lindaman L, Wientroub S, Leet A. The surgical management of fibrous dysplasia of bone. Orphanet J Rare Dis. 2012 May 24;7 Suppl 1(Suppl 1):S1. doi: 10.1186/1750-1172-7-S1-S1. Epub 2012 May 24. |
| 31035847 | Result | Majoor BCJ, Traunmueller E, Maurer-Ertl W, Appelman-Dijkstra NM, Fink A, Liegl B, Hamdy NAT, Sander Dijkstra PD, Leithner A. Pain in fibrous dysplasia: relationship with anatomical and clinical features. Acta Orthop. 2019 Aug;90(4):401-405. doi: 10.1080/17453674.2019.1608117. Epub 2019 Apr 30. |
| 10535539 | Result | Cohen MM Jr, Howell RE. Etiology of fibrous dysplasia and McCune-Albright syndrome. Int J Oral Maxillofac Surg. 1999 Oct;28(5):366-71. |
| 12119276 | Result | Weinstein LS, Chen M, Liu J. Gs(alpha) mutations and imprinting defects in human disease. Ann N Y Acad Sci. 2002 Jun;968:173-97. doi: 10.1111/j.1749-6632.2002.tb04335.x. |
| 17229001 | Result | Riminucci M, Saggio I, Robey PG, Bianco P. Fibrous dysplasia as a stem cell disease. J Bone Miner Res. 2006 Dec;21 Suppl 2:P125-31. doi: 10.1359/jbmr.06s224. |
| D009461 | Neurologic Manifestations |
| D012816 | Signs and Symptoms |
| D013568 | Pathological Conditions, Signs and Symptoms |