Actively Recruiting
Registry of Patients With Bone Disorders focused on Achondroplasia
Led by Johns Hopkins University · Updated on 2026-04-01
1500
Participants Needed
1
Research Sites
N/A
Total Duration
On this page
Sponsors
J
Johns Hopkins University
Lead Sponsor
U
University of Wisconsin, Madison
Collaborating Sponsor
AI-Summary
What this Trial Is About
Researchers are creating an electronic registry to collect detailed clinical information from patients with achondroplasia, a rare bone condition. Initially focused on U.S. patients, this registry aims to support research on health outcomes and treatment options by gathering data from prenatal stages through the most recent medical encounters. The registry is longitudinal, allowing for both retrospective and ongoing data entry over time. The registry is housed in a secure, web-based database called RedCap, designed for multi-site academic research collaboration. It is maintained by the Greenberg Center for Skeletal Dysplasias at Johns Hopkins and involves co-investigators from several U.S. institutions. Each co-investigator can enter and access data for their own patients, with deidentified information shared across sites to enable analysis. The goal is to enroll at least 1,500 patients and support research questions through shared data. Participants' clinical data, including growth measurements and surgical history, are collected through chart reviews over a period of at least three years. The registry tracks detailed phenotypic data while protecting patient identity through password protection and data backup. This observational study allows researchers to better understand the natural history and treatment outcomes of achondroplasia by examining the collected data longitudinally.
CONDITIONS
Brief Title
Achondroplasia Natural History Multicenter Clinical Study
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Molecular or clinical diagnosis of achondroplasia confirmed by physical exam or radiograph review
- Patients must have had a clinical genetics visit at Johns Hopkins, Alfred I. DuPont Hospital for Children, University of Wisconsin-Madison or University of Texas
- Patients may be current clinical patients or have sufficient retrospective clinical data available at these sites
You will not qualify if you...
- Diagnosis of skeletal dysplasia other than heterozygous achondroplasia
- No medical complication or condition excludes patients with achondroplasia
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - Up to 3 years
Participants with achondroplasia are observed over time to collect growth measurements and monitor health outcomes through retrospective and prospective clinical data.
Data collected during routine clinical visits and chart reviews
Trial Site Locations
Total: 1 location
1
Johns Hopkins University
Baltimore, Maryland, United States, 21205
Actively Recruiting
Research Team
J
Julie Hoover-Fong, MD, PhD
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
0
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