Hepato-pancreato-biliary Abnormalities in Fibrous Dysplasia of Bone/McCune Albright Syndrome

NCT06177327 | Recruiting DMC

• 1 other identifier: 23-5288
• Study Type: observational
• Target: 545
• Locations: 1 country
• Sites: 16

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.

Conditions

Fibrous Dysplasia of Bone

Keywords

Fibrous dysplasia of bone; McCune Albright syndrome; pancreatic neoplasms; IPMN

Outcome Measures

Primary Outcomes (1)

• Describe hepato-bilio-pancreatic abnormalities in FD/MAS and estimate the prevalence of IPMN.

  Hepato-bilio-pancreatic abnormalities (size, number, complications) will be described based on hepato-bilio-pancreatic MRI.

  hepato-bilio-pancreatic MRI performed from January 2002 until December 2024.

Study Arms (1)

Adults with polyostotic fibrous dysplasia McCune Albright syndrome

A retrospective data collection and statistical analyses will be performed. Adults with polyostotic fibrous dysplasia McCune Albright syndrome, who underwent an hepato-bilio-pancreatic MRI since January 2002, during their follow-up

Other: Screening for hepato-bilio-pancreatic abnormalities in Fibrous dysplasia of bone /McCune Albright syndrome , description and characterization of the lesions.

Interventions

Screening for hepato-bilio-pancreatic abnormalities in Fibrous dysplasia of bone /McCune Albright syndrome , description and characterization of the lesions. OTHER

Data collection from hepato-bilio-pancreatic Magnetic Resonance Imaging realized during the follow up of patients with Fibrous dysplasia of bone /McCune Albright syndrome

Adults with polyostotic fibrous dysplasia McCune Albright syndrome

Eligibility Criteria

• Age: 18 Years - 100 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Primary care clinic

You may qualify if:

• 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

You may not qualify if:

• Opposition to data collection

Sponsors & Collaborators

• Hospices Civils de Lyon: lead

Study Sites (16)

CHU Angers

Angers, 49100, France

NOT YET RECRUITING

Groupe Hospitalier Pellegrin - Chu

Bordeaux, 33076, France

NOT YET RECRUITING

CHU de Brest - Hôpital de la Cavale Blanche

Brest, 29609, France

NOT YET RECRUITING

Chu de Caen Normandie

Caen, 14000, France

NOT YET RECRUITING

Chu de Clermont-Ferrand

Clermont-Ferrand, 63000, France

NOT YET RECRUITING

Chu de Lille

Lille, France

NOT YET RECRUITING

Service Rhumatologie, pavillon F Hopital E. Herriot

Lyon, 69437, France

NOT YET RECRUITING

Assistance Publique - Hopitaux de Marseille (Ap-Hm

Marseille, 13009, France

NOT YET RECRUITING

Chu de Montpellier

Montpellier, 34295, France

NOT YET RECRUITING

CHU de Nice

Nice, 06200, France

NOT YET RECRUITING

Assistance Publique - Hopitaux de Paris (Ap-Hp)

Paris, 75010, France

NOT YET RECRUITING

CHU de Poitiers

Poitiers, 86000, France

NOT YET RECRUITING

Chu de Rennes

Rennes, 35203, France

NOT YET RECRUITING

Chu de Saint-Etienne

Saint-Etienne, 42055, France

RECRUITING

Hopitaux Universitaires de Strasbourg

Strasbourg, 67091, France

NOT YET RECRUITING

Chu de Toulouse

Toulouse, 31300, France

NOT YET RECRUITING

MeSH Terms

Conditions

Fibrous Dysplasia of Bone; Fibrous Dysplasia, Polyostotic; Pancreatic Neoplasms

Interventions

Mass Screening

Condition Hierarchy (Ancestors)

Osteochondrodysplasias; Bone Diseases, Developmental; Bone Diseases; Musculoskeletal Diseases; Digestive System Neoplasms; Neoplasms by Site; Neoplasms; Endocrine Gland Neoplasms; Digestive System Diseases; Pancreatic Diseases; Endocrine System Diseases

Intervention Hierarchy (Ancestors)

Diagnostic Techniques and Procedures; Diagnosis; Health Surveys; Surveys and Questionnaires; Data Collection; Epidemiologic Methods; Investigative Techniques; Diagnostic Services; Preventive Health Services; Health Services; Health Care Facilities Workforce and Services; Health Care Evaluation Mechanisms; Quality of Health Care; Health Care Quality, Access, and Evaluation; Public Health; Environment and Public Health; Public Health Practice

Central Study Contacts

Roland Chapurlat, MD, PhD

CONTACT

+ 33 (0)4 72 11 74 82; roland.chapurlat@chu-lyon.fr

Mélanie Legrand, MD

CONTACT

+ 33 (0)4 72 11 74 79; melanie.legrand@chu-lyon.fr

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: December 11, 2023
• First Posted: December 20, 2023
• Study Start: January 19, 2024
• Primary Completion: November 30, 2024
• Study Completion: December 12, 2025
• Last Updated: February 29, 2024

Record last verified: 2024-02

Data Sharing

• IPD Sharing: Will not share

Locations

FR (16)