Spondyloepiphyseal Dysplasia Clinical Trials 2026 — Find Recruiting Studies

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

Disproportionate short stature with short trunk Delayed ossification of pubic rami, femoral heads, and other epiphyses Platyspondyly (flattened vertebrae) on spinal radiography Odontoid hypoplasia with risk of atlantoaxial instability and myelopathy High myopia and risk of retinal detachment Coxa vara and waddling gait Early-onset degenerative arthritis

Clinical Trial Eligibility Tips

What to know before applying to Spondyloepiphyseal Dysplasia trials.

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.