Clinical Trial: Achondroplasia Natural History Multicenter Clinical Study

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

Official Title: Achondroplasia Natural History Multicenter Clinical Study

Brief 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.

Detailed Summary:

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-protecte
Sponsor: Johns Hopkins University

Current Primary Outcome: Collection of growth measurements of patients with Achondroplasia using chart reviews [ Time Frame: 2 years ]

Determine age at which linear growth ceases in patients with achondroplasia by gender


Original Primary Outcome: Same as current

Current Secondary Outcome: Number of surgeries undertaken by achondroplasia patients using chart reviews. [ Time Frame: 2 years ]

To quantify the total number, type, age indications and complications of all surgical interventions of a cohort of patients with achondroplasia


Original Secondary Outcome: Same as current

Information By: Johns Hopkins University

Dates:
Date Received: October 26, 2015
Date Started: April 2016
Date Completion: April 2018
Last Updated: April 11, 2016
Last Verified: April 2016