Fibrous Dysplasia: An Epidemiological and Correlational Evaluation of Multimodal Data
Ориентир для пациента и семьи
Простыми словами
Автоматическая сводка по структурированным данным реестра. Она помогает сориентироваться, но не заменяет официальный протокол или оценку врача.
- Что изучают
- Это наблюдательное исследование: исследуемое лечение участникам по протоколу не назначают.
- Кому может быть актуально
- Состояния в реестре: Fibrous Dysplasia, Fibrous Dysplasia of Bone, Fibrous Dysplasia/McCune-Albright Syndrome, Mazabraud Syndrome. Базовые параметры: Без ограничений · Все.
- Что важно проверить
- Возраст, диагноз и пол — только базовые ориентиры. Предыдущее лечение, анализы и другие обязательные условия указаны ниже в критериях участия.
- Где проводится
- Италия
- Следующий шаг
- Сохраните исследование, покажите его лечащему врачу и уточните актуальный статус у исследовательского центра. Расходы, документы и поездка →
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Официальное название
Fibrous Dysplasia: An Epidemiological and Correlational Study of Anthropometric, Clinical, Treatment, and Genetic Data
Обзор
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.
Первичные конечные точки
- Description of surgical procedures [Срок оценки: 4 years]
Вторичные конечные точки (3)
- Description of clinical features of Fibrous Dysplasia patients [Срок оценки: 4 years]
- Genotype-phenotype correlation [Срок оценки: 4 years]
- Number and types of post-interventions complications and pain [Срок оценки: 4 years]
Критерии участия
Критерии включения
- 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
Критерии исключения
- Patients who do not meet the inclusion criteria
Критерии приведены из реестра в оригинале (на английском). Окончательную оценку соответствия проводит исследовательский центр.
Здоровые добровольцы: Нет
Дизайн исследования
- Модель наблюдения
- Когортное
Центры проведения
Италия · 1 центр
- IRCCS Istituto Ortopedico Rizzoli — Bologna
Публикации
- 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 D PMID 31196103
- 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
- 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
- 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
- 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
- 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
Идентификаторы
NCT: NCT07569731 · 294/2022/Sper/IOR