- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT05031507
Study of Skeletal Disorders
Clinical and Laboratory Study of Rare Skeletal Disorders
Background:
There are 461 conditions that affect the bones (skeletal disorders). Many of these are not well understood and do not have any specific treatments. Researchers want to collect more data about these conditions.
Objective:
To gain more information about the causes of skeletal disorders and how they progress over time.
Eligibility:
People ages 2 months or older with known or suspected skeletal disorders. Also, healthy family members of affected enrolled participants.
Design:
Participants can take part in the study either remotely or in person. Those who take part remotely may send in medical records, blood samples, photographs, and other materials.
Participants medical records will be reviewed. They may give blood and/or urine samples. They will give blood, saliva, or tissue samples for genetic tests. They may have genetic counseling.
Participants ages 2 years and older may have different kinds of imaging scans, such as x-rays. For these scans, they may have to lie still while machines take pictures of their bones.
Participants with skeletal disorders who come to the clinic will be examined. They may be asked to stay in the hospital for a few days to take extra tests. They may have a bone or skin biopsy.
Participants with skeletal disorders may be photographed to show the effects of their disorder and how it changes over time.
For participants with skeletal disorders, their blood or tissue samples may be used to make a special type of stem cell. These cells can be used in the laboratory to make many other types of cells. A large supply of these cells may be created for research.
Participation will last indefinitely.
Study Overview
Status
Conditions
Detailed Description
Study Description:
This is a clinical and laboratory study of rare skeletal disorders using a combination of both retrospective and prospective methods. This is a single site study taking place at the NIH Clinical Center with the added ability for participants to submit medical records and specimens remotely.
Objectives:
Primary Objective: To provide a protocol in which subjects with rare skeletal disorders can be evaluated and studied and to allow for the receipt of tissues and clinical specimens from individuals and investigators outside of the NIH
Secondary Objective: To perform genetic testing including genes currently known to cause skeletal disorders as well as those currently without association with skeletal disorders
Endpoints:
Primary Endpoint: To define or further define genetic etiologies of known and unknown skeletal disorders and create genotype-phenotype correlations when possible
Secondary Endpoints: To describe natural history of individual disorders if enough data is collected on a particular condition(s)
Study Type
Enrollment (Estimated)
Contacts and Locations
Study Contact
- Name: Holly E Babcock
- Phone Number: (301) 594-3391
- Email: holly.babcock@nih.gov
Study Contact Backup
- Name: Carlos R Ferreira Lopez, M.D.
- Phone Number: (240) 393-5441
- Email: ferreiracr@mail.nih.gov
Study Locations
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Maryland
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Bethesda, Maryland, United States, 20892
- Recruiting
- National Institutes of Health Clinical Center
-
Contact:
- For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)
- Phone Number: TTY8664111010 800-411-1222
- Email: prpl@cc.nih.gov
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-
Participation Criteria
Eligibility Criteria
Ages Eligible for Study
Accepts Healthy Volunteers
Sampling Method
Study Population
Description
- INCLUSION CRITERIA:
We will focus enrollment of subjects (and their relatives) who fall within one of the below categories:
- Individuals with a skeletal disorder that affects phosphate levels and/or metabolism
- Individuals with a skeletal disorder associated with skeletal overgrowth
- Individuals with a skeletal disorder with an unknown molecular basis or unknown etiology
In addition to noting the above, to be eligible to participate in this study as an affected subject, an individual must meet all of the following criteria:
- Have a known (via clinical, radiographic or molecular diagnosis) or suspected skeletal disorder
- State willingness to comply with study procedures and availability for the duration of the study
- Be age 2 months or older
- Be able to understand and sign informed consent document (or availability of a parent/guardian or LAR to provide written consent)
In order to be eligible to participate in this study as an unaffected subject, an individual must meet all of the following criteria:
- Be an unaffected family member of an affected enrolled subject
- State willingness to comply with study procedures and availability for the duration of the study
- Be age 2 months or older
- Be able to understand and sign informed consent document (or availability of a parent/guardian)
EXCLUSION CRITERIA:
The below describe exclusion criteria for an individual to participate as an affected subject:
- An individual who cannot or is unwilling to abide by the procedures of the protocol.
- An individual deemed to not have sufficient signs of skeletal disease.
- An individual who is pregnant.
The below describe exclusion criteria for an individual to participate as an unaffected subject:
- An individual who cannot or is unwilling to abide by the procedures of the protocol.
- An individual that shows signs of skeletal disease.
- An individual who is pregnant.
Study Plan
How is the study designed?
Design Details
- Observational Models: Case-Only
- Time Perspectives: Other
Cohorts and Interventions
Group / Cohort |
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1
Subjects with rare skeletal disorders
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What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
To define or further define genetic etiologies of known and unknown skeletal disorders and create genotype-phenotype correlations when possible
Time Frame: ongoing
|
To define or further define genetic etiologies of known and unknown skeletal disorders and create genotype-phenotype correlations when possible
|
ongoing
|
Secondary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Describe Natural History
Time Frame: ongoing
|
To describe natural history of individual disorders if enough data is collected on a particular condition(s)
|
ongoing
|
Collaborators and Investigators
Investigators
- Principal Investigator: Carlos R Ferreira Lopez, M.D., National Human Genome Research Institute (NHGRI)
Publications and helpful links
Helpful Links
Study record dates
Study Major Dates
Study Start (Actual)
Primary Completion (Estimated)
Study Completion (Estimated)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Actual)
Study Record Updates
Last Update Posted (Actual)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Additional Relevant MeSH Terms
Other Study ID Numbers
- 10000213
- 000213-HG
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
Studies a U.S. FDA-regulated device product
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
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