Radiological Analysis on Patients With Achondroplasia Disorder

Civil Hospices of Lyon

Status: Unknown

Conditions: Achondroplasia

Treatments: Other: Collection of clinical data registered in Easily software

Study type: Observational

Funder types: Other

Identifiers

NCT04184817

Achondroplasia_2019

Details and patient eligibility

About

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.

Enrollment: 60 estimated patients

Sex: All

Ages: Under 18 years old

Volunteers: No Healthy Volunteers

Inclusion criteria

• Boys and girls.
• Aged from 0 to 18 years old.
• Subjects with an Achondroplasia diagnosis.
• Patients or parents/ legal guardian must provide non opposition prior to participation in the study.

Exclusion criteria

• Patients or patient's parents or legal guardian whose have an objection for using their data.

Trial design

60 participants in 1 patient group

Medical data collection

Description:

The medical data of patients diagnosed by Achondroplasia will be collected. The radiological data will analyse to evaluate the severity of stenosis as well as its clinical tolerance and evolution.

Treatment:

Other: Collection of clinical data registered in Easily software