Multicenter achondroplasia natural history registry
Registry of Patients With Bone Disorders
This project will create a U.S. registry to collect medical and treatment information from people with achondroplasia so researchers can see patterns over time.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 1500 (estimated) |
| Sex | All |
| Sponsor | Johns Hopkins University Academic / other |
| Locations | 1 site (Baltimore, Maryland) |
| Trial ID | NCT02597881 on ClinicalTrials.gov |
What this trial studies
The registry will collect standardized phenotypic and clinical data on U.S. patients with achondroplasia using a REDCap database managed by the Greenberg Center for Skeletal Dysplasias at Johns Hopkins. Sites contributing data include Johns Hopkins, Alfred I. DuPont Hospital for Children, University of Wisconsin-Madison, and University of Texas, and entries may be added retrospectively and updated longitudinally. Diagnoses must be confirmed clinically or molecularly and data are entered chronologically from the prenatal period through the most recent encounter. Aggregated, queryable data will be used to characterize natural history and treatment outcomes for patients with achondroplasia.
Who should consider this trial
Good fit: People of any age with a clinical or molecular diagnosis of achondroplasia who have been seen at one of the participating centers and have sufficient clinical records for entry are ideal candidates.
Not a fit: Patients with other skeletal dysplasias, those not seen at a participating center, or those lacking sufficient clinical records are unlikely to benefit from inclusion in this registry.
Why it matters
Potential benefit: If successful, the registry could improve understanding of long-term outcomes and help guide treatment and care decisions for people with achondroplasia.
How similar studies have performed: Similar multicenter natural history registries for rare genetic conditions have successfully informed care and trial design, though large achondroplasia-specific registries have been limited.
Eligibility criteria
Show full inclusion / exclusion criteria
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
Where this trial is running
Baltimore, Maryland
- Johns Hopkins University — Baltimore, Maryland, United States (Recruiting)
Study contacts
- Principal investigator: Julie Hoover-Fong, MD,PhD — Johns Hopkins University
- Study coordinator: Julie Hoover-Fong, MD, PhD
- Email: jhoover2@jhmi.edu
- Phone: 4106140977
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.