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Radiological Analysis on Patients With Achondroplasia Disorder

NCT04184817 · Status: UNKNOWN · Type: OBSERVATIONAL · Enrollment: 60

Last updated 2020-07-13

No results posted yet for this study

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

Interventions

OTHER

Collection of clinical data registered in Easily software

Collection of clinical data registered in Easily software

Sponsors & Collaborators

  • Hospices Civils de Lyon

    lead OTHER

Principal Investigators

  • Federico DI ROCCO, Pr · Hospices Civils de Lyon

  • Massimiliano Rossi, MD · Hospices Civils de Lyon

Eligibility

Max Age
18 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2020-02-15
Primary Completion
2020-08-31
Completion
2020-08-31

Countries

  • France

Study Locations

More Related Trials

Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT04184817 on ClinicalTrials.gov