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Achondroplasia Natural History Multicenter Clinical Study

Registry of Patients With Bone Disorders

Who can join

All ages · All sexes

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

About the 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.

Sponsor: Johns Hopkins University · Participants: 1,500 · Started: 2016-04

Contact the study team

• Julie Hoover-Fong, MD, PhD · Phone: 4106140977

Official record on ClinicalTrials.gov — NCT02597881

Locations in the U.S.

Conditions

• Achondroplasia

From ClinicalTrials.gov, data retrieved Sep 30, 2026. Each study sets its own eligibility; the study team decides who can join.