NCT00001727

Brief Summary

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

  • understand the basic bone biology of the pathologic cell (or cells) involved in the lesions of PFD/MAS
  • determine the presence or absence of mutated cells at "uninvolved sites" to formulate better strategies of predicting the initiation of new lesions, the natural history of lesion progression and/or response to therapy
  • understand osteogenic differentiation, in particular, the role of G(s)alpha in these lesions, which will be transferable to our understanding of bone biology in general
  • understand the pathophysiology of FD and/or endocrine lesions
  • develop better methods of identifying and expanding unaffected bone cells from patients with PFD in an effort to create better grafting material(s)
  • Identify and predict clinical and biological behavior of fibrous dysplastic bone lesions based on:
  • stability, rate of growth, rate of change, progression and regression, and development of new lesions
  • differences between cranial, axial and appendicular lesions
  • Define the natural history of the multiple endocrinopathies associated with MAS and the response to standard of care medications
  • Define clinical and biological aspects of the disease not previously identified
  • Generate future research studies related to PFD alone or in combination with MAS

Trial Health

75
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
500

participants targeted

Target at P75+ for all trials

Geographic Reach
1 country

1 active site

Status
recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

December 13, 1998

Completed
11 months until next milestone

First Submitted

Initial submission to the registry

November 3, 1999

Completed
1 day until next milestone

First Posted

Study publicly available on registry

November 4, 1999

Completed
Last Updated

March 27, 2026

Status Verified

March 3, 2026

First QC Date

November 3, 1999

Last Update Submit

March 26, 2026

Conditions

McCune-Albright Syndrome

Keywords

Fibrous Dysplasia (FD)McCune-Albright Syndrome (MAS)Natural History

Outcome Measures

Primary Outcomes (1)

  • Primary Objective: Define the natural history of disease by gaining clinical and basic information about PFD/MAS by following patients clinically and using in vitro experimentation with tissue from patients with the disease.

    Successfully enroll, evaluate, and manage subjects with Polyostotic Fibrous Dysplasia and McCune-Albright Syndrome.

    2029

Secondary Outcomes (1)

  • Refer eligible patients for enrollment into other appropriate research protocols, if any are currently active.

    end of study

Study Arms (1)

1

Subjects with Polyostotic Fibrous Dysplasia and McCune-Albright Syndrome.

Eligibility Criteria

Age1 Day - 100 Years
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

Subjects with Polyostotic Fibrous Dysplasia and McCune-Albright Syndrome.

You may qualify if:

  • 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.

You may not qualify if:

  • Patient, child, or parent/guardian unwilling to fully cooperate with the evaluations.
  • Patient or parent/guardian unable to provide informed consent.

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

RECRUITING

Related Publications (4)

  • Pan KS, FitzGibbon EJ, Vitale S, Lee JS, Collins MT, Boyce AM. Utility of Optical Coherence Tomography in the Diagnosis and Management of Optic Neuropathy in Patients with Fibrous Dysplasia. J Bone Miner Res. 2020 Nov;35(11):2199-2210. doi: 10.1002/jbmr.4129. Epub 2020 Aug 24.

    PMID: 32644197DERIVED

  • de Castro LF, Burke AB, Wang HD, Tsai J, Florenzano P, Pan KS, Bhattacharyya N, Boyce AM, Gafni RI, Molinolo AA, Robey PG, Collins MT. Activation of RANK/RANKL/OPG Pathway Is Involved in the Pathophysiology of Fibrous Dysplasia and Associated With Disease Burden. J Bone Miner Res. 2019 Feb;34(2):290-294. doi: 10.1002/jbmr.3602. Epub 2018 Nov 29.

    PMID: 30496606DERIVED

  • Robinson C, Estrada A, Zaheer A, Singh VK, Wolfgang CL, Goggins MG, Hruban RH, Wood LD, Noe M, Montgomery EA, Guthrie LC, Lennon AM, Boyce AM, Collins MT. Clinical and Radiographic Gastrointestinal Abnormalities in McCune-Albright Syndrome. J Clin Endocrinol Metab. 2018 Nov 1;103(11):4293-4303. doi: 10.1210/jc.2018-01022.

    PMID: 30124968DERIVED

  • Brown RJ, Kelly MH, Collins MT. Cushing syndrome in the McCune-Albright syndrome. J Clin Endocrinol Metab. 2010 Apr;95(4):1508-15. doi: 10.1210/jc.2009-2321. Epub 2010 Feb 15.

    PMID: 20157193DERIVED

Related Links

MeSH Terms

Conditions

Fibrous Dysplasia, PolyostoticFibrous Dysplasia of Bone

Condition Hierarchy (Ancestors)

OsteochondrodysplasiasBone Diseases, DevelopmentalBone DiseasesMusculoskeletal Diseases

Study Officials

  • Alison M Boyce, M.D.

    National Institute of Dental and Craniofacial Research (NIDCR)

    PRINCIPAL INVESTIGATOR

Central Study Contacts

Olivia J de Jong, C.R.N.P.

CONTACT

(240) 595-2764olivia.dejong@nih.gov

Alison M Boyce, M.D.

CONTACT

(301) 827-4802alison.boyce@nih.gov

Study Design

Study Type
observational
Observational Model
CASE ONLY
Time Perspective
PROSPECTIVE
Sponsor Type
NIH
Responsible Party
SPONSOR

Study Record Dates

First Submitted

November 3, 1999

First Posted

November 4, 1999

Study Start

December 13, 1998

Last Updated

March 27, 2026

Record last verified: 2026-03-03

Locations

US(1)