Achondroplasia Natural History Multicenter Clinical Study
Achondroplasia Natural History Multicenter Clinical Study
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.
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 retrospectively
 enter patients' clinical data from the prenatal period up through the most recent encounter,
 with all intervening data entered in a chronologic fashion. The database has been created in
 RedCap, a publicly available database format created by researchers at the University of
 Miami specifically for academic researchers collaborating across multiple research sites. The
 rationale for creating such a database is simple; achondroplasia is relatively rare so
 collaboration among researchers is essential to gather similarly affected patients to answer
 common clinical research questions. The goal is to better understand the natural history and
 treatment outcomes for these patients.

 This registry was built by, based at and maintained by personnel from the Greenberg Center
 for Skeletal Dysplasias in the McKusick-Nathans Institute of Genetic Medicine (IGM) at Johns
 Hopkins. The registry is web-based and therefore easily accessible to our co-investigators at
 other sites across the U.S., including Alfred I. DuPont in Wilmington, Delaware, University
 of Wisconsin in Madison and University of Texas.

 Our goal is to enroll at least 1500 patients with achondroplasia from the aforementioned
 sites. Access to the registry is password-protected and the data will be backed up on the IGM
 server daily. A co-investigator will be able to enter and access the identifying information
 (i.e. name, address, contact information, DOB) for their patients only in the registry.
 Thereafter, a unique study identification number, calculated age of the subject (based on the
 date of data entry) and diagnosis will be the only identifiers accessible to the other
 co-investigators. The total deidentified phenotype data will be available to the
 co-investigators during data analysis.
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:

 -  Skeletal dysplasia diagnosis other than heterozygous

 -  Achondroplasia

 -  There is no medical complication or condition which excludes a patient with
 achondroplasia