Radiological Analysis on Patients With Achondroplasia Disorder (Achondroplasia)

July 10, 2020 updated by: Hospices Civils de Lyon

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

Intervention / Treatment

Study Type

Observational

Enrollment (Anticipated)

60

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

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

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Retrospective

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
Time Frame: MRI results in children with Achondroplasia will be collected through study completion an average of 2 year.

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

This is where you will find people and organizations involved with this study.

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

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

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

Additional Relevant MeSH Terms

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

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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