Achondroplasia Natural History Multicenter Clinical Study

Status: Enrolling by invitation
Study Type: Observational [Patient Registry]

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.

Participation Requirements
Sex: All
Healthy Volunteers: No

• 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

Time Frame
Start Date: April 2016
Estimated Completion Date: December 2023
Target number of participants: 1500
Leads: Johns Hopkins University
Collaborators: Alan and Kathryn Greenberg Center for Skeletal Dysplasias, University of Texas, University of Wisconsin, Madison, Alfred I. duPont Hospital for Children, BioMarin Pharmaceutical

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