Fibrous Dysplasia: An Epidemiological and Correlational Evaluation of Multimodal Data (FIBR DYSPLASIA)
Fibrous Dysplasia: An Epidemiological and Correlational Study of Anthropometric, Clinical, Treatment, and Genetic Data
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.
Studieoversigt
Status
Undersøgelsestype
Tilmelding (Anslået)
Kontakter og lokationer
Studiekontakt
- Navn: Luca Sangiorgi, MD, PhD, MSc
- Telefonnummer: +390516366342
- E-mail: luca.sangiorgi@ior.it
Studiesteder
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BO
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Bologna, BO, Italien, 40136
- Rekruttering
- IRCCS Istituto Ortopedico Rizzoli
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Kontakt:
- Luca Sangiorgi
- Telefonnummer: 0516366342
- E-mail: luca.sangiorgi@ior.it
-
-
Deltagelseskriterier
Berettigelseskriterier
Aldre berettiget til at studere
- Barn
- Voksen
- Ældre voksen
Tager imod sunde frivillige
Prøveudtagningsmetode
Studiebefolkning
Beskrivelse
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
Studieplan
Hvordan er undersøgelsen tilrettelagt?
Design detaljer
Kohorter og interventioner
Gruppe / kohorte |
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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
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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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Hvad måler undersøgelsen?
Primære resultatmål
Resultatmål |
Foranstaltningsbeskrivelse |
Tidsramme |
|---|---|---|
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Description of surgical procedures
Tidsramme: 4 years
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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).
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4 years
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Sekundære resultatmål
Resultatmål |
Foranstaltningsbeskrivelse |
Tidsramme |
|---|---|---|
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Genotype-phenotype correlation
Tidsramme: 4 years
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Identification of somatic pathogenic variants (described using HGMD) and genotype-phenotype correlation of molecular data with available clinical information
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4 years
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Description of clinical features of Fibrous Dysplasia patients
Tidsramme: 4 years
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Describe natural history of patients affected by Fibrous Dysplasia, McCune-Albright syndorme and Mazabraud syndrome
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4 years
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Number and types of post-interventions complications and pain
Tidsramme: 4 years
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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)
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4 years
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Samarbejdspartnere og efterforskere
Sponsor
Publikationer og nyttige links
Generelle publikationer
- 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.
- 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.
- 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.
- Cohen MM Jr, Howell RE. Etiology of fibrous dysplasia and McCune-Albright syndrome. Int J Oral Maxillofac Surg. 1999 Oct;28(5):366-71.
- 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.
- 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.
Datoer for undersøgelser
Studer store datoer
Studiestart (Faktiske)
Primær færdiggørelse (Anslået)
Studieafslutning (Anslået)
Datoer for studieregistrering
Først indsendt
Først indsendt, der opfyldte QC-kriterier
Først opslået (Faktiske)
Opdateringer af undersøgelsesjournaler
Sidste opdatering sendt (Faktiske)
Sidste opdatering indsendt, der opfyldte kvalitetskontrolkriterier
Sidst verificeret
Mere information
Begreber relateret til denne undersøgelse
Yderligere relevante MeSH-vilkår
Andre undersøgelses-id-numre
- 294/2022/Sper/IOR
Plan for individuelle deltagerdata (IPD)
Planlægger du at dele individuelle deltagerdata (IPD)?
IPD-planbeskrivelse
Lægemiddel- og udstyrsoplysninger, undersøgelsesdokumenter
Studerer et amerikansk FDA-reguleret lægemiddelprodukt
Studerer et amerikansk FDA-reguleret enhedsprodukt
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