Fibrous Dysplasia: An Epidemiological and Correlational Study of Multimodal Data

NCT07569731 | Recruiting

• 1 other identifier: 294/2022/Sper/IOR
• Study Type: observational
• Target: 200
• Locations: 1 country
• Sites: 1

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.

Conditions

Fibrous Dysplasia; Fibrous Dysplasia of Bone; Fibrous Dysplasia/McCune-Albright Syndrome; Mazabraud Syndrome

Keywords

Fibrous Dysplasia; McCune-Albright Syndrome; Mazabraud Syndrome; Surgical procedures; GNAS; Pain

Outcome Measures

Primary Outcomes (1)

• 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

Secondary Outcomes (3)

• Natural History of Fibrous Dysplasia

  4 years

• Genotype-phenotype correlation

  4 years

• Post-interventions complications and pain

  4 years

Study Arms (2)

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

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

All consecutive patients affected by Fibrous Dysplasia, McCune-Albright syndrome and Mazabraud syndrome

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

Sponsors & Collaborators

• Istituto Ortopedico Rizzoli: lead

Study Sites (1)

IRCCS Istituto Ortopedico Rizzoli

Bologna, BO, 40136, Italy

RECRUITING

Related Publications (6)

• 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.

  PMID: 31196103 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.

  PMID: 22640754 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.

  PMID: 31035847 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.

  PMID: 10535539 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.

  PMID: 12119276 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.

  PMID: 17229001 RESULT

Biospecimen

Retention: SAMPLES WITH DNA

Bone Tissue

MeSH Terms

Conditions

Fibrous Dysplasia of Bone; Fibrous Dysplasia, Polyostotic; Pain

Condition Hierarchy (Ancestors)

Osteochondrodysplasias; Bone Diseases, Developmental; Bone Diseases; Musculoskeletal Diseases; Neurologic Manifestations; Signs and Symptoms; Pathological Conditions, Signs and Symptoms

Central Study Contacts

Luca Sangiorgi, MD, PhD, MSc

CONTACT

+390516366342; luca.sangiorgi@ior.it

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Head of Departement of Rare Skeletal Disorders

Study Record Dates

• First Submitted: April 21, 2026
• First Posted: May 6, 2026
• Study Start: May 12, 2022
• Primary Completion (Estimated): June 30, 2026
• Study Completion (Estimated): June 30, 2026
• Last Updated: May 6, 2026

Record last verified: 2026-04

Data Sharing

• IPD Sharing: Will not share

Locations

IT (1)