Clinical Trials Logo

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.


Clinical Trial Description

n/a


Study Design


Related Conditions & MeSH terms


NCT number NCT04184817
Study type Observational
Source Hospices Civils de Lyon
Contact Federico DI ROCCO, Pr
Phone 4 72 35 75 72
Email federico.dirocco@chu-lyon.fr
Status Recruiting
Phase
Start date February 15, 2020
Completion date August 2020

See also
  Status Clinical Trial Phase
Recruiting NCT05353192 - A Study to Evaluate the Efficacy and Safety of Recombinant Human Growth Hormone in Children With Achondroplasia Phase 4
Recruiting NCT05328050 - Registry for Patients With Achondroplasia / Hypochondroplasia (OMPR-Ach/Hy)
Completed NCT05659719 - A Study to Learn About Recifercept in Patients With Achondroplasia
Active, not recruiting NCT04554940 - A Clinical Trial to Evaluate Safety of Vosoritide in At-risk Infants With Achondroplasia Phase 2
Completed NCT01435629 - A Survey Collecting Data on Adult Height in Patients With Achondroplasia Treated With Somatropin N/A
Enrolling by invitation NCT06164951 - A Study to Evaluate the Efficacy and Safety of Infigratinib in Children and Adolescents With Achondroplasia Phase 3
Completed NCT03583697 - A Clinical Trial to Evaluate the Safety and Efficacy of BMN 111 in Infants and Young Children With Achondroplasia Phase 2
Completed NCT01516229 - Special Survey for Long Term Application N/A
Completed NCT03872531 - Lifetime Impact Study for Achondroplasia
Active, not recruiting NCT05598320 - A Clinical Trial to Evaluate Efficacy and Safety of TransCon CNP Compared With Placebo in Children With Achondroplasia Phase 2/Phase 3
Terminated NCT05813314 - Bioequivalence Study to Compare Two Injection Devices for BMN 111 in Healthy Participants Phase 1
Recruiting NCT04265651 - Study of Infigratinib in Children With Achondroplasia Phase 2
Recruiting NCT05603936 - Adaption and Testing of the Quality of Life in Short Stature Youth (QoLISSY) Questionnaire for Parents With Children From 0-4
Completed NCT03780153 - The Norwegian Adult Achondroplasia Study
Active, not recruiting NCT04085523 - A Dose Escalation Trial Evaluating Safety, Efficacy, and Pharmacokinetics of TransCon CNP Administered Once Weekly in Prepubertal Children With Achondroplasia Phase 2
Enrolling by invitation NCT05929807 - A Clinical Trial to Investigate Long-term Safety, Tolerability, and Efficacy of Weekly Subcutaneous Doses With TransCon CNP in Children and Adolescents With Achondroplasia Phase 2/Phase 3
Completed NCT03875534 - A Multi-center, Longitudinal, Observational Study of Children With Achondroplasia
Terminated NCT03794609 - Observational Study Investigating Clinical & Anthropometric Characteristics of Children With Achondroplasia.
Active, not recruiting NCT03989947 - An Extension Study to Evaluate Safety and Efficacy of BMN 111 in Children With Achondroplasia Phase 2
Active, not recruiting NCT05246033 - A Dose Escalation Trial Evaluating Safety, Efficacy, and Pharmacokinetics of Multiple Subcutaneous Doses of TransCon CNP Administered Once Weekly in Children With Achondroplasia Phase 2