NCT05031507

Study of Skeletal Disorders

Clinical and Laboratory Study of Rare Skeletal Disorders

• Status: Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 100 (estimated)
• Sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) · NIH
• Sex: All
• Age: 2 Months – 100 Years
• Healthy volunteers: Accepted

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 or history of pregnancy affected by skeletal findings. 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)

Conditions

• Skeletal Disorders

Timeline

• Start date: 2022-01-18
• Primary completion: 2027-07-31
• Completion: 2027-07-31
• First posted: 2021-09-02
• Last updated: 2026-02-05

Locations

1 site across 1 country: United States