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Achondroplasia Natural History Multicenter Clinical Study

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Trial Status Suspended

Trial Identifier

NCT02597881

Condition

Achondroplasia

The below information is taken directly from public registry websites such as ClinicalTrials.gov, EuClinicalTrials.eu, ISRCTN.com, etc. and has not been edited.

Trial Summary

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

Birth Sex

All

Age

Any

Healthy Volunteers

No

Study Type:

Observational

Number of Participants:

1500

Study Started:

2016-04

Study Updated:

2025-03-25

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 achondroplasi

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