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.
調査の概要
状態
研究の種類
入学 (推定)
連絡先と場所
研究連絡先
- 名前：Luca Sangiorgi, MD, PhD, MSc
- 電話番号：+390516366342
- メール：luca.sangiorgi@ior.it
研究場所
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BO
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Bologna、BO、イタリア、40136
- 募集
- IRCCS Istituto Ortopedico Rizzoli
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コンタクト：
- Luca Sangiorgi
- 電話番号：0516366342
- メール：luca.sangiorgi@ior.it
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-
参加基準
適格基準
就学可能な年齢
- 子
- 大人
- 高齢者
健康ボランティアの受け入れ
サンプリング方法
調査対象母集団
説明
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
研究計画
研究はどのように設計されていますか？
デザインの詳細
コホートと介入
グループ/コホート |
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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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この研究は何を測定していますか？
主要な結果の測定
結果測定 |
メジャーの説明 |
時間枠 |
|---|---|---|
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Description of surgical procedures
時間枠：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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二次結果の測定
結果測定 |
メジャーの説明 |
時間枠 |
|---|---|---|
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Genotype-phenotype correlation
時間枠：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
時間枠：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
時間枠：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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協力者と研究者
出版物と役立つリンク
一般刊行物
- 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.
研究記録日
主要日程の研究
研究開始 (実際)
一次修了 (推定)
研究の完了 (推定)
試験登録日
最初に提出
QC基準を満たした最初の提出物
最初の投稿 (実際)
学習記録の更新
投稿された最後の更新 (実際)
QC基準を満たした最後の更新が送信されました
最終確認日
詳しくは
本研究に関する用語
追加の関連 MeSH 用語
その他の研究ID番号
- 294/2022/Sper/IOR
個々の参加者データ (IPD) の計画
個々の参加者データ (IPD) を共有する予定はありますか?
IPD プランの説明
医薬品およびデバイス情報、研究文書
米国FDA規制医薬品の研究
米国FDA規制機器製品の研究
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