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Screening and Natural History of Patients With Polyostotic Fibrous Dysplasia and the McCune-Albright Syndrome

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ClinicalTrials.gov Identifier: NCT00001727
Recruitment Status : Recruiting
First Posted : November 4, 1999
Last Update Posted : October 8, 2020
Sponsor:
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Institute of Dental and Craniofacial Research (NIDCR) )

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

  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.

Study Population

The study population will include:

  1. Subjects with known or suspected Polyostotic Fibrous Dysplasia (PFD) or in combination with McCune-Albright Syndrome (MAS)
  2. Subjects who meet eligibility criteria will be accepted regardless of gender, race, or ethnicity

Design

This study is an observational/natural history study of PFD/MAS.

Outcome Measures

Primary

  1. Successfully enroll subjects with PFD or MAS for the collection, evaluation and analysis of data obtained from clinical visits.
  2. Obtain onsite and offsite research tissue (waste tissue) from patients with PFD/MAS that are enrolled onto this study or from individuals with PFD/MAS that are offsite and willing to donate waste tissue to NIH. Research tissue will be used with existing primary cell culture technology (ongoing in our laboratories) to:

    • 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)
  3. 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
  4. Define the natural history of the multiple endocrinopathies associated with MAS and the response to standard of care medications
  5. Define clinical and biological aspects of the disease not previously identified
  6. Generate future research studies related to PFD alone or in combination with MAS

Secondary

1) Successfully enroll eligible subjects into active research protocols applicable to the FD/MAS population.


Condition or disease
McCune Albright Syndrome

Show Show detailed description

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Study Type : Observational
Estimated Enrollment : 500 participants
Observational Model: Case-Only
Time Perspective: Prospective
Official Title: Screening and Natural History of Patients With Polyostotic Fibrous Dysplasia and the McCune-Albright Syndrome
Actual Study Start Date : December 13, 1998


Group/Cohort
1
Subjects with Polyostotic Fibrous Dysplasia and McCune-Albright Syndrome.



Primary Outcome Measures :
  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. [ Time Frame: 2029 ]
    Successfully enroll, evaluate, and manage subjects with Polyostotic Fibrous Dysplasia and McCune-Albright Syndrome.



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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Subjects with Polyostotic Fibrous Dysplasia and McCune-Albright Syndrome.
Criteria
  • INCLUSION CRITERIA

    1. 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.

EXCLUSION CRITERIA

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00001727


Contacts
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Contact: Lori C Guthrie, R.N. (301) 594-0844 guthriel@mail.nih.gov
Contact: Alison M Boyce, M.D. (301) 827-4802 alison.boyce@nih.gov

Locations
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United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike Recruiting
Bethesda, Maryland, United States, 20892
Contact: For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)    800-411-1222 ext TTY8664111010    prpl@cc.nih.gov   
Sponsors and Collaborators
National Institute of Dental and Craniofacial Research (NIDCR)
Investigators
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Principal Investigator: Alison M Boyce, M.D. National Institute of Dental and Craniofacial Research (NIDCR)
Additional Information:
Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):
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Responsible Party: National Institute of Dental and Craniofacial Research (NIDCR)
ClinicalTrials.gov Identifier: NCT00001727    
Other Study ID Numbers: 980145
98-D-0145
First Posted: November 4, 1999    Key Record Dates
Last Update Posted: October 8, 2020
Last Verified: July 9, 2020
Keywords provided by National Institutes of Health Clinical Center (CC) ( National Institute of Dental and Craniofacial Research (NIDCR) ):
Fibrous Dysplasia (FD)
McCune-Albright Syndrome
Additional relevant MeSH terms:
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Fibrous Dysplasia of Bone
Fibrous Dysplasia, Polyostotic
Syndrome
Disease
Pathologic Processes
Osteochondrodysplasias
Bone Diseases, Developmental
Bone Diseases
Musculoskeletal Diseases