Recruiting

Natural History and Specimen Acquisition in Polyostotic Fibrous Dysplasia and McCune-Albright Syndrome

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Study Aim

This observational study aims to define the natural history of Polyostotic Fibrous Dysplasia and McCune-Albright Syndrome by clinically following patients and conducting in vitro experiments with patient tissue, ultimately contributing to a better understanding of these conditions.

What is being collected

Data Collection

Collected from today forward - Prospective
Who is being recruted

Bone Diseases+3

+ Bone Diseases, Developmental

+ Musculoskeletal Diseases

+3 Eligibility Criteria
See all eligibility criteria
How is the trial designed

Case-Only

Examining characteristics of individuals with a disease in order to identify genetic or environmental factors contributing to the condition.
Observational
Study Start: December 1998
See protocol details

Summary

Principal SponsorNational Institute of Dental and Craniofacial Research (NIDCR)
Study ContactOlivia J de Jong, C.R.N.P.More contacts
Last updated: July 16, 2026
Sourced from a government-validated database.Claim as a partner

Study start date: December 13, 1998

Actual date on which the first participant was enrolled.

Study Description: Polyostotic fibrous dysplasia (PFD) is a sporadic disorder which affects multiple sites in the skeleton. The bone at these sites is rapidly resorbed and replaced by abnormal fibrous tissue or mechanically abnormal bone. PFD may occur alone or as part of the McCune-Albright Syndrome (MAS), a syndrome originally defined by the triad of PFD, cafe-au-lait pigmentation of the skin, and precocious puberty. The bony lesions are frequently disfiguring, disabling and painful, and depending on the location of the lesion, can cause significant morbidity. Lesions in weight-bearing bones can lead to disabling fractures, while lesions in the skull can lead to compression of vital structures such as cranial nerves. The natural history of this disease is poorly described and there are no clearly defined systemic therapies for the bone disease. This is a data collection and specimen acquisition protocol. The purpose of the study is to define the natural history of the disease by following PFD/MAS subjects over time and by using in vitro experimentation with samples/tissue from subjects with the disease. Study Objectives 1. Primary Objective Define the natural history of disease by gaining clinical and basic information about PFD/MAS by following subjects clinically and using in vitro experimentation with tissue from subjects with the disease. 2. Secondary Objective Refer eligible subjects for enrollment into other appropriate research protocols, if any are currently active.

NCT00001727
Principal SponsorNational Institute of Dental and Craniofacial Research (NIDCR)
Study ContactOlivia J de Jong, C.R.N.P.More contacts
Last updated: July 16, 2026
Sourced from a government-validated database.Claim as a partner

Protocol

This section provides details of the study plan, including how the study is designed and what the study is measuring.
Design Details

500 patients to be enrolled

Total number of participants that the clinical trial aims to recruit.

Case-only

These studies focus only on individuals who have a specific disease. Researchers examine patterns—often genetic or environmental—to uncover what might be linked to the condition.

Eligibility

Researchers look for people who fit a certain description, called eligibility criteria: person's general health condition or prior treatments.
Conditions
Criteria

Any sex

Biological sex of participants that are eligible to enroll.

Range of ages for which participants are eligible to join.

Healthy volunteers not allowed

If individuals who are healthy and do not have the condition being studied can participate.

Conditions

Pathology

Bone DiseasesBone Diseases, DevelopmentalMusculoskeletal DiseasesOsteochondrodysplasiasFibrous Dysplasia of BoneFibrous Dysplasia, Polyostotic

Criteria

1 inclusion criteria required to participate
Any patient, age 1 day of life and older, with a likelihood of having PFD or MAS, based on information from an appropriate referring physician or surgeon or provided by the patient or guardian. The diagnosis will be based on typical findings on bone biopsy or on clinical grounds

2 exclusion criteria prevent from participating
Patient or parent/guardian unable to provide informed consent

Patient, child, or parent/guardian unwilling to fully cooperate with the evaluations

Study Plan

Find out more about all the medication administered in this study, their detailed description and what they involve.
Treatment Groups
Study Objectives

One single intervention group is designated in this study

This study does not include a placebo group 

Treatment Groups

Study Objectives

Primary Objectives

Secondary Objectives

Study Centers

These are the hospitals, clinics, or research facilities where the trial is being conducted. You can find the location closest to you and its status.

This study has 1 location

Recruiting

National Institutes of Health Clinical Center

Bethesda, United StatesOpen National Institutes of Health Clinical Center in Google Maps
Recruiting
One Study Center