Recruiting

Observational Study

Sponsor:

Johns Hopkins University

Code:

NCT02597881

Conditions

Achondroplasia

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Study Details

Brief 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.

Conditions

Achondroplasia

Study ID

NCT02597881

Start date

Apr, 2016

Status verified date

Mar, 2026

Completion date

Dec 31, 2030

Anticipated

Primary completion date

Dec 31, 2030

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

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

Study Design

Enrollment

1500 participants

Anticipated

Interventions and Outcome Measures

Primary outcome measure

  • Collection of growth measurements of patients with Achondroplasia using chart reviews [ Time Frame: 3 years ]

Central Contacts and Locations

Central contacts

Julie Hoover-Fong, MD, PhD

4106140977jhoover2@jhmi.edu

Locations

Johns Hopkins University

Recruiting

Baltimore, Maryland, United States, 21205

Contacts

Julie Hoover-Fong, MD, PhD

443-226-5165jhoover2@jhmi.edu

More Information

Sponsor

Johns Hopkins University

Last update posted

Apr 1, 2026

Last verified

Mar, 2026

Keywords

  • natural history

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by Johns Hopkins University on 2026-04-01.