Radiological Analysis on Patients With Achondroplasia Disorder (Achondroplasia)

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

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.

Study Overview

• Status: Unknown
• Conditions: Achondroplasia
• Intervention / Treatment: Other: Collection of clinical data registered in Easily software

• Study Type: Observational
• Enrollment (Anticipated): 60

Contacts and Locations

• Study Contact: Name: Federico DI ROCCO, Pr; Phone Number: +33 4 72 35 75 72; Email: federico.dirocco@chu-lyon.fr
• Study Contact Backup: Name: Massimiliano Rossi, MD; Phone Number: +33 4 27 85 55 72; Email: massimiliano.rossi01@chu-lyon.fr

Study Locations

• France
  • Bron, France, 69500
    • Recruiting
    • Hôpital Femme-Mère-Enfant
    • Contact: Federico DI ROCCO, Pr; Phone Number: +33 4 72 35 75 72; Email: federico.dirocco@chu-lyon.fr

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: No older than 18 years (Child, Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

Patients with Achondroplasia

Description

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.

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Retrospective

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
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.	Other: Collection of clinical data registered in Easily software; Collection of clinical data registered in Easily software

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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.

Collaborators and Investigators

• Sponsor: Hospices Civils de Lyon
• Investigators: Principal Investigator: Federico DI ROCCO, Pr, Hospices Civils de Lyon; Principal Investigator: Massimiliano Rossi, MD, Hospices Civils de Lyon

Study record dates

Study Major Dates

• Study Start (Actual): February 15, 2020
• Primary Completion (Anticipated): August 1, 2020
• Study Completion (Anticipated): August 1, 2020

Study Registration Dates

• First Submitted: November 25, 2019
• First Submitted That Met QC Criteria: November 29, 2019
• First Posted (Actual): December 4, 2019

Study Record Updates

• Last Update Posted (Actual): July 13, 2020
• Last Update Submitted That Met QC Criteria: July 10, 2020
• Last Verified: November 1, 2019

More Information

Terms related to this study

• Keywords: Achondroplasia; cranio-vertebral abnormalities
• Additional Relevant MeSH Terms: Genetic Diseases, Inborn; Musculoskeletal Diseases; Bone Diseases; Dwarfism; Bone Diseases, Developmental; Osteochondrodysplasias; Achondroplasia
• Other Study ID Numbers: Achondroplasia_2019

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No