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.
Descripción general del estudio
Estado
Tipo de estudio
Inscripción (Estimado)
Contactos y Ubicaciones
Estudio Contacto
- Nombre: Luca Sangiorgi, MD, PhD, MSc
- Número de teléfono: +390516366342
- Correo electrónico: luca.sangiorgi@ior.it
Ubicaciones de estudio
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BO
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Bologna, BO, Italia, 40136
- Reclutamiento
- IRCCS Istituto Ortopedico Rizzoli
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Contacto:
- Luca Sangiorgi
- Número de teléfono: 0516366342
- Correo electrónico: luca.sangiorgi@ior.it
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Criterios de participación
Criterio de elegibilidad
Edades elegibles para estudiar
- Niño
- Adulto
- Adulto Mayor
Acepta Voluntarios Saludables
Método de muestreo
Población de estudio
Descripción
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
Plan de estudios
¿Cómo está diseñado el estudio?
Detalles de diseño
Cohortes e Intervenciones
Grupo / Cohorte |
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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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¿Qué mide el estudio?
Medidas de resultado primarias
Medida de resultado |
Medida Descripción |
Periodo de tiempo |
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Description of surgical procedures
Periodo de tiempo: 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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Medidas de resultado secundarias
Medida de resultado |
Medida Descripción |
Periodo de tiempo |
|---|---|---|
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Genotype-phenotype correlation
Periodo de tiempo: 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
Periodo de tiempo: 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
Periodo de tiempo: 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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Colaboradores e Investigadores
Patrocinador
Publicaciones y enlaces útiles
Publicaciones Generales
- 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.
Fechas de registro del estudio
Fechas importantes del estudio
Inicio del estudio (Actual)
Finalización primaria (Estimado)
Finalización del estudio (Estimado)
Fechas de registro del estudio
Enviado por primera vez
Primero enviado que cumplió con los criterios de control de calidad
Publicado por primera vez (Actual)
Actualizaciones de registros de estudio
Última actualización publicada (Actual)
Última actualización enviada que cumplió con los criterios de control de calidad
Última verificación
Más información
Términos relacionados con este estudio
Palabras clave
Términos MeSH relevantes adicionales
Otros números de identificación del estudio
- 294/2022/Sper/IOR
Plan de datos de participantes individuales (IPD)
¿Planea compartir datos de participantes individuales (IPD)?
Descripción del plan IPD
Información sobre medicamentos y dispositivos, documentos del estudio
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Estudia un producto de dispositivo regulado por la FDA de EE. UU.
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