Ignite Creation Date:
2024-05-05 @ 11:20 AM
Last Modification Date:
2024-10-26 @ 9:02 AM
Study NCT ID:
NCT00001727
Status:
RECRUITING
Last Update Posted:
2024-07-12
First Post:
1999-11-03
Brief Title:
Screening and Natural History of Patients With Polyostotic Fibrous Dysplasia and the McCune-Albright Syndrome
Sponsor:
National Institute of Dental and Craniofacial Research NIDCR
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
Screening and Natural History of Patients With Polyostotic Fibrous Dysplasia and the McCune-Albright Syndrome
Status:
RECRUITING
Status Verified Date:
2024-09-30
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
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 PFDMAS subjects over time and by using in vitro experimentation with samplestissue from subjects with the disease
Study Objectives
1 Primary Objective
Define the natural history of disease by gaining clinical and basic information about PFDMAS 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 observationalnatural history study of PFDMAS
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 PFDMAS that are enrolled onto this study or from individuals with PFDMAS 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 PFDMAS
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 andor response to therapy
understand osteogenic differentiation in particular the role of Gsalpha in these lesions which will be transferable to our understanding of bone biology in general
understand the pathophysiology of FD andor endocrine lesions
develop better methods of identifying and expanding unaffected bone cells from patients with PFD in an effort to create better grafting materials
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 FDMAS population
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 PFDMAS subjects over time and by using in vitro experimentation with samplestissue from subjects with the disease
Study Objectives
1 Primary Objective
Define the natural history of disease by gaining clinical and basic information about PFDMAS 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 observationalnatural history study of PFDMAS
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 PFDMAS that are enrolled onto this study or from individuals with PFDMAS 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 PFDMAS
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 andor response to therapy
understand osteogenic differentiation in particular the role of Gsalpha in these lesions which will be transferable to our understanding of bone biology in general
understand the pathophysiology of FD andor endocrine lesions
develop better methods of identifying and expanding unaffected bone cells from patients with PFD in an effort to create better grafting materials
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 FDMAS population
Detailed 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 PFDMAS subjects over time and by using in vitro experimentation with samplestissue from subjects with the disease
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 PFDMAS subjects over time and by using in vitro experimentation with samplestissue from subjects with the disease
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| 98-D-0145 | None | None | None |