Polyostotic Fibrous DysplasiaNCT00001973
Studies on Abnormal Bone From Patients With Polyostotic Fibrous Dysplasia and McCune Albright Syndrome
An observational study of Polyostotic Fibrous Dysplasia, run by National Institute of Dental and Craniofacial Research (NIDCR) at 1 site in United States.
Trial summary
This study will investigate how a gene mutation (change in DNA) causes the abnormal bone in fibrous dysplasia-a condition in which areas of normal bone are replaced with a fibrous growth similar to a scar. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Polyostotic Fibrous Dysplasia
- How many people
- Not given
- Where
- 1 siteUnited States
- Study dates
- 18 Dec 1996to 12 Dec 2008
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- All patients who are scheduled to have orthopedic surgery for treatment of polyostotic fibrous dysplasia (PFD).
- Tissue will only be obtained from those patients in whom the procedure is clinically indicated for standard reasons such as treatment of or prevention of fractures, or disfigurement resulting from abnormal growth of facial and/ or skull bones.
- The diagnosis of PFD will have been established by standard radiologic criteria and in patients with McCune Albright syndrome (MAS), also by the characteristic skin and endocrine manifestations associated with that form of the disease.
- Patients meeting criteria for juvenile dermatomyositis who undergo surgical removal of calcinosis are eligible. The tissue from surgery would be used in the research study.
Who cannot join
None listed.
Trial locations and contacts
1 site in 1 country.
United States1 site
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, 20892
About this study
Official title: Studies on Tissues From Patients With Fibrous Dysplasia of Bone/McCune-Albright Syndrome and Other Disorders of Calcified Tissues
This study will investigate how a gene mutation (change in DNA) causes the abnormal bone in fibrous dysplasia-a condition in which areas of normal bone are replaced with a fibrous growth similar to a scar. The bone abnormalities in fibrous dysplasia can occur in a single bone (monostotic fibrous dysplasia), multiple bones (polyostotic fibrous dysplasia), or in McCune Albright syndrome, in which there are associated glandular abnormalities. This study will also examine calcinosis samples that have been surgically removed from patients with juvenile dermatomyositis.
Patients who are scheduled to have orthopedic surgery for treatment of polyostotic fibrous dysplasia may participate in this study. A small sample of bone tissue removed during surgery will be given to investigators in this study for research tests. DNA will be extracted from the tissue and tested for the mutation. Investigators will attempt to grow cells from the sample in the laboratory to evaluate them for their ability to grow and make proteins that normal bone cells make. These tests are designed to help scientists understand how the mutation leads to abnormal bone formation and provide information that might lead to better treatments for fibrous dysplasia. Patients with juvenile Dermatomyositis who have a calcinosis sample surgically removed are also eligible for participation. The removed tissues will be examined for their composition and microscopic appearance, to better understand the pathogenesis of dystrophic calcification in this disease.
Read the detailed description
Polyostotic fibrous dysplasia (PFD) is a sporadic disorder in which multiple sites of bone are replaced by abnormal fibrous tissue. PFD may occur alone or as part of the McCune Albright syndrome (MAS). We have previously identified a somatic activating mutation in the gene encoding the alpha-subunit of Gs, the G protein which mediates the action of hormones that work by increasing intracellular levels of cyclic adenosine monophosphate (cAMP), in affected tissues from patients with PFD and MAS. The objectives of this study are to determine how activating mutations of the Gs alpha-subunit lead to the changes of PFD, and to determine if interventions that block the biochemical effects of the activating mutation in in vitro and in vivo animal model systems could prevent some of the cellular changes characteristic of PFD. To carry out these studies, we plan to obtain pathologic bone tissue from patients with either isolated PFD or PFD in the context of MAS. In one phase of the study, archival pathology specimens of affected bone will be retrospectively analyzed using a variety of immunohistochemical techniques. In the second phase of the study, specimens of affected bone will be obtained prospectively from patients undergoing clinically indicated orthopedic procedures. Specimens will be placed in primary culture, cultured cells will be analyzed for the Gs alpha-subunit activating mutation, and the mutant-bearing cells will be studied by a variety of cell biologic and pharmacologic techniques.
- Conditions
- Polyostotic Fibrous Dysplasia
- Keywords
- G Protein Mutation, McCune-Albright Syndrome, Fibrous Dysplasia, Mutation, Pathology, Immunohistochemistry, PCR, In Situ Hybridization, Juvenile Dermatomyositis, Calcinosis
- Medical subject headings
- Fibrous Dysplasia, Polyostotic, Fibrous Dysplasia of Bone, Dermatomyositis, Calcinosis
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted19 Jan 2000 (estimated)
- Study start18 Dec 1996
- Study completion12 Dec 2008
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Polyostotic Fibrous DysplasiaStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
Sponsor and investigators
- Lead sponsor
- National Institute of Dental and Craniofacial Research (NIDCR)
- Sponsor type
- US National Institutes of Health
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00001973
- Sponsor's protocol ID
- 970055
- Other IDs
- 97-D-0055
- Status last verified
- 12 Dec 2008
- First submitted
- 18 Jan 2000
- Last updated
- 2 Jul 2017
- Results posted
- No
Study at a glance
From the registry record, last updated by the sponsor on 2 Jul 2017. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Studies on Tissues From Patients With Fibrous Dysplasia of Bone/McCune-Albright Syndrome and Other Disorders of Calcified Tissues
- ClinicalTrials.gov ID
- NCT00001973
- Acronym / sponsor ID
- 970055
- Conditions
- Polyostotic Fibrous Dysplasia
- Keywords
- G Protein Mutation, McCune-Albright Syndrome, Fibrous Dysplasia, Mutation, Pathology, Immunohistochemistry, PCR, In Situ Hybridization
- Study type
- Observational
- Recruitment status
- Completed
- Lead sponsor
- National Institute of Dental and Craniofacial Research (NIDCR)US National Institutes of Health
- Study start
- 18 Dec 1996
- Study completion
- 12 Dec 2008
- First posted
- 19 Jan 2000 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
This study will investigate how a gene mutation (change in DNA) causes the abnormal bone in fibrous dysplasia-a condition in which areas of normal bone are replaced with a fibrous growth similar to a scar. The bone abnormalities in fibrous dysplasia can occur in a single bone (monostotic fibrous dysplasia), multiple bones (polyostotic fibrous dysplasia), or in McCune Albright syndrome, in which there are associated glandular abnormalities. This study will also examine calcinosis samples that have been surgically removed from patients with juvenile dermatomyositis.
Patients who are scheduled to have orthopedic surgery for treatment of polyostotic fibrous dysplasia may participate in this study. A small sample of bone tissue removed during surgery will be given to investigators in this study for research tests. DNA will be extracted from the tissue and tested for the mutation. Investigators will attempt to grow cells from the sample in the laboratory to evaluate them for their ability to grow and make proteins that normal bone cells make. These tests are designed to help scientists understand how the mutation leads to abnormal bone formation and provide information that might lead to better treatments for fibrous dysplasia. Patients with juvenile Dermatomyositis who have a calcinosis sample surgically removed are also eligible for participation. The removed tissues will be examined for their composition and microscopic appearance, to better understand the pathogenesis of dystrophic calcification in this disease.
Detailed description
Polyostotic fibrous dysplasia (PFD) is a sporadic disorder in which multiple sites of bone are replaced by abnormal fibrous tissue. PFD may occur alone or as part of the McCune Albright syndrome (MAS). We have previously identified a somatic activating mutation in the gene encoding the alpha-subunit of Gs, the G protein which mediates the action of hormones that work by increasing intracellular levels of cyclic adenosine monophosphate (cAMP), in affected tissues from patients with PFD and MAS. The objectives of this study are to determine how activating mutations of the Gs alpha-subunit lead to the changes of PFD, and to determine if interventions that block the biochemical effects of the activating mutation in in vitro and in vivo animal model systems could prevent some of the cellular changes characteristic of PFD. To carry out these studies, we plan to obtain pathologic bone tissue from patients with either isolated PFD or PFD in the context of MAS. In one phase of the study, archival pathology specimens of affected bone will be retrospectively analyzed using a variety of immunohistochemical techniques. In the second phase of the study, specimens of affected bone will be obtained prospectively from patients undergoing clinically indicated orthopedic procedures. Specimens will be placed in primary culture, cultured cells will be analyzed for the Gs alpha-subunit activating mutation, and the mutant-bearing cells will be studied by a variety of cell biologic and pharmacologic techniques.
Study design
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (4 listed)
- All patients who are scheduled to have orthopedic surgery for treatment of polyostotic fibrous dysplasia (PFD).
- Tissue will only be obtained from those patients in whom the procedure is clinically indicated for standard reasons such as treatment of or prevention of fractures, or disfigurement resulting from abnormal growth of facial and/ or skull bones.
- The diagnosis of PFD will have been established by standard radiologic criteria and in patients with McCune Albright syndrome (MAS), also by the characteristic skin and endocrine manifestations associated with that form of the disease.
- Patients meeting criteria for juvenile dermatomyositis who undergo surgical removal of calcinosis are eligible. The tissue from surgery would be used in the research study.
Key exclusion criteria (0 listed)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Not reported in the source record.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 2 Jul 2017.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Polyostotic Fibrous Dysplasia, run by National Institute of Dental and Craniofacial Research (NIDCR) at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 0 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 2 Jul 2017. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 2 Jul 2017.