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Achondroplasia Natural History Multicenter Clinical Study

Recruitingn/aAges any - anyAllJohns Hopkins University
NCT02597881 on ClinicalTrials.gov ↗
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In plain words

What the trial is, and whether it could suit you

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.

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📋 Eligibility rules (as published)
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
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What it tests

  • Not listed
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Where

1 site
Johns Hopkins University
Baltimore, United States
🤝 Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible — always decide together with your own doctor.
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