Achondroplasia Natural History Multicenter Clinical Study
ConditionAchondroplasia
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
AgeNot listed
SponsorJohns Hopkins University
About this trial
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.
Eligibility criteria
This trial does not accept healthy volunteersQualifiers
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
Disqualifiers
Skeletal dysplasia diagnosis other than heterozygous
Achondroplasia
There is no medical complication or condition which excludes a patient with achondroplasia
Trial population
Achondroplasia patients seen at one of the participating sites
Trial design
Design model
Cohort
Time perspective
Other
Treatments tested in this trial
Not listed
Trial groups
No trial groups listed
Trial outcomes
Primary outcomes
1
Collection of growth measurements of patients with Achondroplasia using chart reviews
Determine age at which linear growth ceases in patients with achondroplasia by gender
Time frame
3 yearsSecondary outcomes
1
Number of surgeries undertaken by achondroplasia patients using chart reviews.
To quantify the total number, type, age indications and complications of all surgical interventions of a cohort of patients with achondroplasia
Time frame
3 yearsSponsors and contacts
Click on the lead sponsor to view all of their trials.
Johns Hopkins University
Lead sponsor
University of Wisconsin, Madison
Collaborator
Alfred I. duPont Hospital for Children
Collaborator
University of Texas
Collaborator
BioMarin Pharmaceutical
Collaborator
Greenberg Center for Skeletal Dysplasias
Collaborator
Source ClinicalTrials.gov