Clinical trial NCT06177327: Hepato-pancreato-biliary Abnormalities in Fibrous Dysplasia of Bone/McCune Albright Syndrome
Official title: Screening and Epidemiology of Hepato-pancreato-biliary Abnormalities in Fibrous Dysplasia of Bone /McCune Albright Syndrome: the TIM-DYS Study
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Fibrous Dysplasia of Bone
Keywords: Fibrous dysplasia of bone
McCune Albright syndrome
pancreatic neoplasms
IPMN
Lead sponsor: Hospices Civils de Lyon
Sponsor class: OTHER
First posted: 2023-12-20
Enrollment: 545
Sex: ALL
Minimum age (years): 18
Maximum age (years): 100
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: RETROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Primary care clinic

Brief summary: Fibrous dysplasia of bone /McCune Albright syndrome (FD/MAS) is a rare bone disease caused by somatic mutations in GNAS gene. This GNAS mutation predisposes to cancers, including breast cancer, thyroid cancer, chondrosarcoma and osteosarcoma, as well as biliary tract anomalies, liver-tumors or pancreatic tumors - IPMNs. Intraductal papillary and mucinous neoplasms of the pancreas (IPMN) are cystic intraepithelial ductal lesions developed at the expense of pancreatic ducts. They are pre-cancerous lesions, requiring monitoring and, in case of progression or malignant degeneration, surgical resection. Pancreatic MRI screening of patients with polyostotic FD and MAS is recommended.

The aim of this study is to investigate the epidemiology and characteristics of these hepato-pancreato-biliary abnormalities (prevalence, age of onset, degeneration), based on magnetic resonance imaging (MRI) realized during the follow-up of patients with FD/MAS treated in a French FD expert center.

A better understanding of these IPMNs and other digestive abnormalities will enable clinicians to improve the management and monitoring in this high-risk population.


Eligibility criteria: Inclusion Criteria:

* Adults ≥18 years with polyostotic FD/MAS
* Followed up in the national FD reference center (Lyon) or in a FD French expert center: Angers, Bordeaux, Brest, Caen, Clermont-Ferrand, Lille, Marseille, Montpellier, Nice, Paris, Poitiers, Rennes, Saint-Etienne, Strasbourg.
* who had an hepato-bilio-pancreatic MRI during their follow-up, since January 2002
* No objection to data collection

Exclusion Criteria:

-Opposition to data collection

Primary outcomes:
measure: Describe hepato-bilio-pancreatic abnormalities in FD/MAS and estimate the prevalence of IPMN.
timeFrame: hepato-bilio-pancreatic MRI performed from January 2002 until December 2024.
Secondary outcomes:
Other outcomes:
Locations:
city: Angers
country: France
facility: CHU Angers
city: Bordeaux
country: France
facility: Groupe Hospitalier Pellegrin - Chu
city: Brest
country: France
facility: CHU de Brest - Hôpital de la Cavale Blanche
city: Caen
country: France
facility: Chu de Caen Normandie
city: Clermont-Ferrand
country: France
facility: Chu de Clermont-Ferrand
city: Lille
country: France
facility: Chu de Lille
city: Lyon
country: France
facility: Service Rhumatologie, pavillon F Hopital E. Herriot
city: Marseille
country: France
facility: Assistance Publique - Hopitaux de Marseille (Ap-Hm
city: Montpellier
country: France
facility: Chu de Montpellier
city: Nice
country: France
facility: CHU de Nice
city: Paris
country: France
facility: Assistance Publique - Hopitaux de Paris (Ap-Hp)
city: Poitiers
country: France
facility: CHU de Poitiers
city: Rennes
country: France
facility: Chu de Rennes
city: Saint-Étienne
country: France
facility: Chu de Saint-Etienne
city: Strasbourg
country: France
facility: Hopitaux Universitaires de Strasbourg
city: Toulouse
country: France
facility: Chu de Toulouse
Study officials:
References: