Registry of Patients With Bone Disorders
Johns Hopkins University
Summary
The purpose of this study is to create an electronic registry to house phenotypic information from patients with achondroplasia. The initial focus of this registry will be to include U.S. patients with achondroplasia. Once populated, the collective data can be queried to pursue clinical research questions pertaining to health outcomes and treatment options for patients with this conditions. The registry is longitudinal in nature with the functionality to retrospectively enter patients' clinical data from the prenatal period up through the most recent encounter, with all intervening data entered in a chronologic fashion.
Description
The purpose of this protocol is to create an electronic registry to house phenotypic information from patients with all types of bone conditions. The initial focus of this registry will be to include U.S. patients with achondroplasia. Once populated by co-investigators with particular interest, expertise and large clinical populations with these bone conditions, the collective data can be queried to pursue clinical research questions pertaining to health outcomes and treatment options for patients with these complex conditions. The registry is longitudinal in nature with the functionality to r…
Eligibility
- Age range
- Not specified
- Sex
- All
- Healthy volunteers
- No
Inclusion Criteria: * Molecular or clinical diagnosis of achondroplasia (as confirmed by physical exam and/or radiograph review by the PI, one of the co-PIs or other qualified clinical geneticists) * Subjects must have been seen for a clinical genetics visit at Johns Hopkins, Alfred I. DuPont Hospital for Children, University of Wisconsin-Madison or University of Texas * Subjects may be active clinical patients at the above sites or no longer treated at a given site but with sufficient retrospective clinical data for extraction as determined by the PI or co-PIs Exclusion Criteria: * Skeleta…
Location
- Johns Hopkins UniversityBaltimore, Maryland