Clinical Trial 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....
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.
