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Trial record 1 of 23 for:    achondroplasia
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Radiological Analysis on Patients With Achondroplasia Disorder (Achondroplasia)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT04184817
Recruitment Status : Not yet recruiting
First Posted : December 4, 2019
Last Update Posted : December 4, 2019
Information provided by (Responsible Party):
Hospices Civils de Lyon

Brief 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.

Condition or disease Intervention/treatment
Achondroplasia Other: Collection of clinical data registered in Easily software

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Study Type : Observational
Estimated Enrollment : 60 participants
Observational Model: Cohort
Time Perspective: Retrospective
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
Estimated Study Start Date : February 2020
Estimated Primary Completion Date : August 2020
Estimated Study Completion Date : August 2020

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

Primary Outcome Measures :
  1. 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.

Information from the National Library of Medicine

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Ages Eligible for Study:   up to 18 Years   (Child, Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Patients with Achondroplasia

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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT04184817

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Contact: Federico DI ROCCO, Pr 4 72 35 75 72 ext +33
Contact: Massimiliano ROSSI, MD 4 27 85 55 72 ext +33

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Hôpital Femme-Mère-Enfant
Bron, France, 69500
Contact: Federico DI ROCCO, Pr    4 72 35 75 72 ext +33   
Sponsors and Collaborators
Hospices Civils de Lyon

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Responsible Party: Hospices Civils de Lyon Identifier: NCT04184817    
Other Study ID Numbers: Achondroplasia_2019
First Posted: December 4, 2019    Key Record Dates
Last Update Posted: December 4, 2019
Last Verified: November 2019

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Hospices Civils de Lyon:
cranio-vertebral abnormalities
Additional relevant MeSH terms:
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Bone Diseases, Developmental
Bone Diseases
Musculoskeletal Diseases
Genetic Diseases, Inborn