Multicenter achondroplasia natural history registry
Official title: Registry of Patients With Bone Disorders
Run by Johns Hopkins University · NCT02597881 · Data updated 2026-11-12
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 |
|---|---|
| Sex | All |
| Enrollment | 1500 (estimated) |
| Sponsor | Johns Hopkins University Academic / other |
| Locations | 1 site (Baltimore, Maryland) |
| Status | Recruiting |
| Started | April 2016 |
| Main results expected | December 31, 2030 |
| Study ends | December 31, 2030 |
| Registry record updated | April 1, 2026 |
| Trial ID | NCT02597881 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a 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.
✕Probably 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.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
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.
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 gone: Similar multicenter natural history registries for rare genetic conditions have successfully informed care and trial design, though large achondroplasia-specific registries have been limited.
Who can join: the full rules
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 it's running
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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
Similar studies
Other studies for the same condition or treatment. Recruiting studies are listed first.
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BMN 333 versus daily vosoritide for growth in children with achondroplasia
This trial tests whether weekly BMN 333 injections help children with achondroplasia grow as well as daily vosoritide.
-
Measuring limb movement in people with FGFR3-related skeletal dysplasia
This project will try using Syde® wearable movement recordings to see which measurements reliably track limb movement in people aged 3 and older with achondroplasia or hypochondroplasia.
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Observing children with achondroplasia over time
Collecting growth, clinical, and quality-of-life information from children with achondroplasia aged 2.5 to under 11 to see how the condition and treatments affect them over 6 months to 2 years.
-
Infigratinib treatment for children under 3 with achondroplasia
This trial tests whether daily oral infigratinib helps children younger than 3 years who have achondroplasia.
-
Evaluating TYRA-300 for children with achondroplasia
This study is testing a new medication called TYRA-300 to see if it is safe and helps children aged 3 to 10 with achondroplasia grow better.
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Observational study of achondroplasia in the US
This study looks at children in the U.S. with achondroplasia to see how they are doing with and without the treatment VOXZOGO™ over at least five years.
How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.