Connective Tissue
Spondyloepiphyseal Dysplasia
Also known as SED, SED congenita, spondyloepiphyseal dysplasia tarda
Spondyloepiphyseal dysplasia is a skeletal dysplasia characterised by disproportionate short stature primarily affecting the spine and epiphyses, caused in the congenital form by pathogenic variants in COL2A1 and in the tarda form by TRAPPC
0
studies recruiting now
as of 7 Sept 2026
1
studies registered in total
as of 7 Sept 2026
0
countries with a recruiting site
as of 7 Sept 2026
None
recruiting study posted to date
among recruiting studies
Recruiting trials
No recruiting trial found right now.
1 study is registered for Spondyloepiphyseal Dysplasia, but none was recruiting as of 7 Sept 2026. Here is what is still worth doing.
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About Spondyloepiphyseal Dysplasia
Spondyloepiphyseal dysplasia is a skeletal dysplasia characterised by disproportionate short stature primarily affecting the spine and epiphyses, caused in the congenital form by pathogenic variants in COL2A1 and in the tarda form by TRAPPC2 mutations on the X chromosome. The congenital form presents at birth with short trunk, pectus carinatum, and coxa vara, and carries significant risk of atlantoaxial instability and associated myelopathy, as well as high myopia and retinal detachment. Adult complications include early-onset degenerative joint disease, particularly of the hips and spine.
Common clinical features
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Before you apply
Things trial teams commonly ask about for Spondyloepiphyseal Dysplasia. Not eligibility rules; those are set by each study.
- Cervical spine MRI documenting odontoid morphology and craniocervical stability is frequently a safety prerequisite before enrolment — confirm it is current and reviewed by a spinal specialist.
- Ophthalmological evaluation including retinal assessment is required in COL2A1-related SED, given the shared phenotypic overlap with Stickler syndrome and retinal detachment risk.
- Molecular subtyping (COL2A1 vs. TRAPPC2) is essential for trial eligibility, as some studies target specific collagenopathies while others focus on the tarda form in male patients.
Related conditions
Information, not medical advice. Trial listings are shown as recorded on ClinicalTrials.gov; whether any study is right for you is a decision for you and your clinicians, and eligibility is decided by each research team. Disease information from Orphanet (CC BY 4.0).