Achondroplasia Natural History Multicenter Clinical Study

NCT02597881 | Recruiting

• 1 other identifier: NA_00086185
• Study Type: observational
• Target: 1,500
• Locations: 1 country
• Sites: 1

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

Keywords

natural history

Outcome Measures

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

  3 years

Secondary Outcomes (1)

• Number of surgeries undertaken by achondroplasia patients using chart reviews.

  3 years

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Achondroplasia patients seen at one of the participating sites

You may qualify if:

• 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

You may not qualify if:

• Skeletal dysplasia diagnosis other than heterozygous
• Achondroplasia
• There is no medical complication or condition which excludes a patient with achondroplasia

Sponsors & Collaborators

• Johns Hopkins University: lead
• 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

Study Sites (1)

Johns Hopkins University

Baltimore, Maryland, 21205, United States

RECRUITING

MeSH Terms

Conditions

Achondroplasia

Condition Hierarchy (Ancestors)

Dwarfism; Bone Diseases, Developmental; Bone Diseases; Musculoskeletal Diseases; Osteochondrodysplasias; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Julie Hoover-Fong, MD,PhD

  Johns Hopkins University

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Julie Hoover-Fong, MD, PhD

CONTACT

4106140977; jhoover2@jhmi.edu

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: OTHER
• Target Duration: 5 Years
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: October 26, 2015
• First Posted: November 5, 2015
• Study Start: April 1, 2016
• Primary Completion (Estimated): December 31, 2030
• Study Completion (Estimated): December 31, 2030
• Last Updated: April 1, 2026

Record last verified: 2026-03

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)