Achondroplasia Natural History Multicenter Clinical Study
Recruiting
Observational Study
Achondroplasia
No Study Drug
Researchers observe your health over time — no experimental treatment is given.
Ready to participate?
Review the details below, then apply to join this clinical trial.
At a Glance
Sex
Any
Study type
Observational
Participants needed
1,500 (estimated)
Sponsor
Johns Hopkins University · Other
Who this trial is looking for
This trial is looking for patients with achondroplasia to join a registry. Participants will provide health information that can help improve treatment options and outcomes for people with this condition.
Are You a Good Fit for This Trial?
You may be able to join if
I have been diagnosed with achondroplasia
I have been seen for a clinical genetics visit at specific hospitals
I am currently a patient at one of the hospitals mentioned or have enough past health data
You may not be able to join if
I have a skeletal dysplasia diagnosis other than heterozygous achondroplasia
I have a medical complication or condition that excludes me
Summarized in plain language from this trial's official eligibility criteria.
The full criteria are further down this page — only the research team can
confirm whether you qualify.
Think this trial could be right for you?
Answer a few quick questions to see if you may meet the eligibility requirements.
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 re…
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.
Trial Locations
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Eligibility 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 Hospi…
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
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