Radiological Analysis on Patients With Achondroplasia Disorder

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

UNKNOWN

Total Enrollment

60 participants

Study Classification

OBSERVATIONAL

Study Start Date

2020-02-15

Study Completion Date

2020-08-31

Brief Summary

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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.

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Detailed Description

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Conditions

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Achondroplasia

Study Design

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Observational Model Type

COHORT

Study Time Perspective

RETROSPECTIVE

Study Groups

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Medical data collection

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.

Collection of clinical data registered in Easily software

Intervention Type OTHER

Collection of clinical data registered in Easily software

Interventions

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Collection of clinical data registered in Easily software

Intervention Type OTHER

Eligibility Criteria

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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.