StenosisNCT00007046
Genetic Study of Patients and Families With Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma of the Bone
An observational study of Stenosis and Histiocytoma, run by National Center for Research Resources (NCRR) at 1 site in United States.
Trial summary
OBJECTIVES: I. Identify and characterize the gene causing diaphyseal medullary stenosis with malignant fibrous histiocytoma of the bone. II. Determine the clinical manifestations of this disease in these patients. Read more about this study
- Who is it for?
- Ages 0 to 90 yearsHealthy volunteers can take part
- Conditions the study is for
- Stenosis, Histiocytoma
- How many people
- Not given
- Where
- 1 siteUnited States
- Study dates
- Aug 2000to not given
- 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 0 to 90 years
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
PROTOCOL ENTRY CRITERIA:
--Disease Characteristics--
Diagnosis of diaphyseal medullary stenosis with malignant fibrous histiocytoma of the bone
OR
Family member, including spouses, of an affected individual
--Patient Characteristics--
Renal: Not specified
- Not pregnant
- Negative pregnancy test
- No diminished mental capacity
- No prisoners
Trial locations and contacts
1 site in 1 country.
United States1 site
Mount Sinai School of Medicine
New York, New York, 10029
About this study
OBJECTIVES: I. Identify and characterize the gene causing diaphyseal medullary stenosis with malignant fibrous histiocytoma of the bone.
II. Determine the clinical manifestations of this disease in these patients.
Read the detailed description
PROTOCOL OUTLINE: Blood samples are obtained from affected individuals and their family members after genetic counseling. Genetic linkage analysis is performed on these blood samples. Unaffected individuals undergo x-rays and technetium bone scans to detect the presence of bone disease. Affected individuals undergo bone densitometry, MRI studies, thallium scans, ophthalmologic examination, electrocardiogram, echocardiogram, and skin biopsies.
Affected family members identified after radiologic studies receive additional genetic counseling.
- Conditions
- Stenosis, Histiocytoma
- Keywords
- arthritis & connective tissue diseases, bone cancer, diaphyseal medullary stenosis, genetic diseases and dysmorphic syndromes, malignant fibrous histiocytoma of bone, musculoskeletal/mesodermal cancer, oncologic disorders, rare disease
- Medical subject headings
- Constriction, Pathologic, Histiocytoma, Arthritis, Connective Tissue Diseases, Bone Neoplasms, Genetic Diseases, Inborn, Histiocytoma, Malignant Fibrous, Rare Diseases
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted7 Dec 2000 (estimated)
- Study startAug 2000
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for StenosisStudies 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 Center for Research Resources (NCRR)
- Sponsor type
- US National Institutes of Health
- Collaborators
- Icahn School of Medicine at Mount Sinai
- Investigators
- J.A. Martignetti, Study chair, Icahn School of Medicine at Mount Sinai
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00007046
- Sponsor's protocol ID
- 199/15489
- Other IDs
- MTS-97-304-0001-HG, MTS-GCO-97-304HG
- Status last verified
- Dec 2003
- First submitted
- 6 Dec 2000
- Last updated
- 24 Jun 2005
- Results posted
- No
Study at a glance
From the registry record, last updated by the sponsor on 24 Jun 2005. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Genetic Study of Patients and Families With Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma of the Bone
- ClinicalTrials.gov ID
- NCT00007046
- Acronym / sponsor ID
- 199/15489
- Conditions
- Stenosis, Histiocytoma
- Keywords
- arthritis & connective tissue diseases, bone cancer, diaphyseal medullary stenosis, genetic diseases and dysmorphic syndromes, malignant fibrous histiocytoma of bone, musculoskeletal/mesodermal cancer, oncologic disorders, rare disease
- Study type
- Observational
- Recruitment status
- Completed
- Lead sponsor
- National Center for Research Resources (NCRR)US National Institutes of Health
- Collaborators
- Icahn School of Medicine at Mount Sinai
- Study start
- Aug 2000
- First posted
- 7 Dec 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.
OBJECTIVES: I. Identify and characterize the gene causing diaphyseal medullary stenosis with malignant fibrous histiocytoma of the bone.
II. Determine the clinical manifestations of this disease in these patients.
Detailed description
PROTOCOL OUTLINE: Blood samples are obtained from affected individuals and their family members after genetic counseling. Genetic linkage analysis is performed on these blood samples. Unaffected individuals undergo x-rays and technetium bone scans to detect the presence of bone disease. Affected individuals undergo bone densitometry, MRI studies, thallium scans, ophthalmologic examination, electrocardiogram, echocardiogram, and skin biopsies.
Affected family members identified after radiologic studies receive additional genetic counseling.
Study design
Who may qualify
- Ages
- 0 to 90 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
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 24 Jun 2005.
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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.
J.A. Martignetti study chair
Icahn School of Medicine at Mount Sinai
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 Stenosis and Histiocytoma, run by National Center for Research Resources (NCRR) 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?
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 24 Jun 2005. 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 24 Jun 2005.