Achondroplasia Natural History Multicenter Clinical Study
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|ClinicalTrials.gov Identifier: NCT02597881|
Recruitment Status : Enrolling by invitation
First Posted : November 5, 2015
Last Update Posted : July 19, 2019
|Condition or disease|
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.
|Study Type :||Observational [Patient Registry]|
|Estimated Enrollment :||1500 participants|
|Target Follow-Up Duration:||2 Years|
|Official Title:||Achondroplasia Natural History Multicenter Clinical Study|
|Study Start Date :||April 2016|
|Estimated Primary Completion Date :||April 2020|
|Estimated Study Completion Date :||April 2020|
- 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
- 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
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02597881
|Principal Investigator:||Julie Hoover-Fong, MD,PhD||Johns Hopkins University|