NCT04184817

Radiological Analysis on Patients With Achondroplasia Disorder

Retrospective Clinical Study to Evaluate of Cranio-vertebral Abnormalities Through Radiological Analysis in Patients With Achondroplasia Treated/Followed at the Hôpital Femme Mère Enfant

• Status: Unknown
• Phase: —
• Study type: Observational
• Enrollment: 60 (estimated)
• Sponsor: Hospices Civils de Lyon · Academic / Other
• Sex: All
• Age: 18 Years
• Healthy volunteers: Not accepted

Summary

Achondroplasia is a genetic disorder characterized by disproportionate short stature. It affects about 1 in 2500 live births in the world. The cause of Achondroplasia was identified to be a gain-of-function mutations in the fibroblast growth receptor 3 (FGFR3). In these children compression of the spinal cord at the foramen magnum stenosis can occur in early childhood which, can lead to central sleep apnea. It can lead to morbidity and mortality. A surgical intervention may be indicated in patients who present a foramen magnum stenosis. However, surgical indications are still under discussion. The objective of this retrospective study is to analyse the degree of stenosis and its clinical tolerance/evolution from radiological data monitored at the Hospital Femme Mère Enfant.

Conditions

• Achondroplasia

Interventions

Type	Name	Description
OTHER	Collection of clinical data registered in Easily software	Collection of clinical data registered in Easily software

Timeline

• Start date: 2020-02-15
• Primary completion: 2020-08-01
• Completion: 2020-08-01
• First posted: 2019-12-04
• Last updated: 2020-07-13

Locations

1 site across 1 country: France