Radiological Analysis on Patients With Achondroplasia Disorder

Achondroplasia Clinical Trial

— Achondroplasia  

Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT04184817
• Other study ID #: Achondroplasia_2019
• Status: Recruiting
• Start date: February 15, 2020
• Est. completion date: August 2020

Study information

• Verified date: November 2019
• Source: Hospices Civils de Lyon
• Contact: Federico DI ROCCO, Pr
• Phone: 4 72 35 75 72
• Email: federico.dirocco[@]chu-lyon.fr
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 60
• Est. completion date: August 2020
• Est. primary completion date: August 2020
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A to 18 Years

Eligibility

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.

Related Conditions & MeSH terms

• Achondroplasia

Intervention

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

Locations

Country	Name	City	State
France	Hôpital Femme-Mère-Enfant	Bron

Sponsors (1)

Lead Sponsor	Collaborator
Hospices Civils de Lyon

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Evaluation of the degree of foramen magnum stenosis, its clinical tolerance and its evolution by radiological clinical data of the patients with Achondroplasia	All patients with Achondroplasia pathology followed at the Hôpital Femme Mère Enfant can be included in this study. The patients can present spinal column abnormalities such as foramen magnum stenosis. All patients diagnosed with Achondroplasia had the MRI. The MRI results will be used to evaluate the degree of deformity of stenosis and its clinical tolerance as well as its evolution. These results will help us to detect the compression at the foramen magnum to prevent lethal complications.; The endpoint choice of this retrospective study will be the MRI of the first visit and the last visit.	MRI results in children with Achondroplasia will be collected through study completion an average of 2 year.