Study of 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 o
| Condition(s) | Skeletal Disorders |
|---|---|
| Status | Recruiting |
| Study type | Observational |
| 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 |
| Who can participate | * 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: 1. Have a known (via clinical, radiographic or molecular diagnosis) or suspected skeletal disorder, findings a |
| Ages | 2 Months to 100 Years |
| Sex | All |
| Accepts healthy volunteers | Yes |
| Lead sponsor | Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) |
| Locations | Bethesda, Maryland, United States |
| Start date | 2022-01-18 |
| NCT ID | NCT05031507 |
| Official listing | https://clinicaltrials.gov/study/NCT05031507 |