Study of Skeletal Disorders

Study Overview
=================
Brief Summary
-----------------
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.

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)

Official Title
-----------------
Clinical and Laboratory Study of Rare Skeletal Disorders

Conditions
-----------------
Skeletal Disorders

Participation Criteria
=================
Eligibility Criteria
-----------------
INCLUSION CRITERIA: In order 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 belowdescribe 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.

Ages Eligible for Study
-----------------
Minimum Age: 2 Months

Sexes Eligible for Study
-----------------
All

Accepts Healthy Volunteers
-----------------
Accepts Healthy Volunteers

Study Plan
=================
How is the study designed?
-----------------

Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| 1<br>Subjects with rare skeletal disorders | |

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 | 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 | To describe natural history of individual disorders if enough data is collected on a particular condition(s) | ongoing | 

 Terms related to the study
=================
Keywords Provided by Centre Hospitalier Valida
-----------------
skeletal, Bone, Skeletal Dysplasia, Short Stature, DWARFISM, Natural History