Achondroplasia Natural History Multicenter Clinical Study
The title of this article is the designation of a study for achondroplasia. The novelty of this study is the attempt of doing a global registry for patients with achondroplasia. But what is the purpose of a patients registry?
- A registry collects and manages patient data and because of that, serves as a tool for clinical researchers as well as health care providers;
- Can allow physicians to share their experiences and information concerning patient management;
- Facilitates the potential recruitment of patients to achondroplasia to future clinical trials;
- Helps scientists to better understand the clinical mechanisms, incidence, epidemiology and history of achondroplasia;
- Allows patients and their families to provide feedback to the health care professionals regarding the quality of the care and how it can be improved. (From REACH registry).
The absence of a well structured registry for achondroplasia is a major flaw. This protocol proposed by Johns Hopkins University and coordinated by Julie Hoover-Fong, MD,PhD, can have a say about this void. This study was presented in November 2015 and will run until December 2017.
As published in the clinicaltrial.gov page:
"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. (...)
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.
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."
