Study of Skeletal Disorders

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)

• INCLUSION CRITERIA:

Our study population will support the mission and scientific focus of the Unit on Skeletal Genomics. 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 or history of pregnancy affected by skeletal findings 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, findings associated with or increasing risk for skeletal abnormalities, or history of pregnancy affected by skeletal findings
• 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 or risks for 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.