Radiological Analysis on Patients With Achondroplasia Disorder

2019-12-07 00:56:45 | BioPortfolio


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 Design




Collection of clinical data registered in Easily software


Hôpital Femme-Mère-Enfant


Not yet recruiting


Hospices Civils de Lyon

Results (where available)

View Results


Published on BioPortfolio: 2019-12-07T00:56:45-0500

Clinical Trials [1559 Associated Clinical Trials listed on BioPortfolio]

Lifetime Impact Study for Achondroplasia

Observational study looking at the burden of illness in achondroplasia subjects aged 3 and above. The study will include a 3 year review of historical clinical data as well as a single poi...

Lifetime Impact of Achondroplasia Study in Europe-LIAISE

Observational study looking at the burden of illness in achondroplasia subjects aged 5-70. The study will include a 5 year review of historical clinical data as well as a single point coll...

Achondroplasia Natural History Multicenter Clinical Study

The purpose of this study is to create an electronic registry to house phenotypic information from patients with achondroplasia. The initial focus of this registry will be to include U.S. ...

Prospective Clinical Assessment Study in Children With Achondroplasia (ACH)

This is a long-term, multi-center, observational study in children 2.5 to 10 years with achondroplasia (ACH). The objective is to evaluate growth, ACH-related medical complications and tre...

A Clinical Trial to Evaluate the Safety and Efficacy of BMN 111 in Infants and Young Children With Achondroplasia

Study 111-206 is a Phase 2 randomized, double-blind, placebo-controlled clinical trial of BMN 111 in infants and young children with a diagnosis of Achondroplasia.

PubMed Articles [31516 Associated PubMed Articles listed on BioPortfolio]

Methodological description of clinical research data collection through electronic medical records in a center participating in an international multicenter study.

Data collection for clinical research can be difficult, and electronic health record systems can facilitate this process. The aim of this study was to describe and evaluate the secondary use of electr...

Early Access to Medicines Scheme: real-world data collection.

Real-world data (RWD) generated during the preapproval phase could be supplementary to primary clinical trial outcomes; however, as we discuss here, a data collection framework is needed to ensure the...

Epidemiology of achondroplasia: A population-based study in Europe.

Achondroplasia is a rare genetic disorder resulting in short-limb skeletal dysplasia. We present the largest European population-based epidemiological study to date using data provided by the European...

Applying Data Warehousing to a Phase III Clinical Trial From the Fondazione Italiana Linfomi Ensures Superior Data Quality and Improved Assessment of Clinical Outcomes.

Data collection in clinical trials is becoming complex, with a huge number of variables that need to be recorded, verified, and analyzed to effectively measure clinical outcomes. In this study, we use...

Clinical impact of data feedback at lung cancer multidisciplinary team meetings: A mixed methods study.

Multidisciplinary team (MDT) meetings can facilitate optimal lung cancer care, yet details of structured data collection and feedback remain sparse. This study aimed to investigate data collection and...

Medical and Biotech [MESH] Definitions

Systematic gathering of data for a particular purpose from various sources, including questionnaires, interviews, observation, existing records, and electronic devices. The process is usually preliminary to statistical analysis of the data.

First-released version of study results in a series of data collection efforts used for the purpose of generating further interest in and or funding of a research study.

Committees established to review interim data and efficacy outcomes in clinical trials. The findings of these committees are used in deciding whether a trial should be continued as designed, changed, or terminated. Government regulations regarding federally-funded research involving human subjects (the "Common Rule") require (45 CFR 46.111) that research ethics committees reviewing large-scale clinical trials monitor the data collected using a mechanism such as a data monitoring committee. FDA regulations (21 CFR 50.24) require that such committees be established to monitor studies conducted in emergency settings.

Development of a library collection, including the determination and coordination of selection policy, assessment of needs of users and potential users, collection use studies, collection evaluation, identification of collection needs, selection of materials, planning for resource sharing, collection maintenance and weeding, and budgeting.

Software designed to store, manipulate, manage, and control data for specific uses.

More From BioPortfolio on "Radiological Analysis on Patients With Achondroplasia Disorder"

Quick Search

Relevant Topics

Pediatrics is the general medicine of childhood. Because of the developmental processes (psychological and physical) of childhood, the involvement of parents, and the social management of conditions at home and at school, pediatrics is a specialty. With ...

Spinal Cord Disorders
The spinal cord is a bundle of nerves that runs down the middle of the back which carry signals back and forth between the body and brain. It is protected by vertebrae, which are the bone disks that make up the spine. An accident that damages the verte...

Sleep Disorders
Sleep disorders disrupt sleep during the night, or cause sleepiness during the day, caused by physiological or psychological factors. The common ones include snoring and sleep apnea, insomnia, parasomnias, sleep paralysis, restless legs syndrome, circa...

Searches Linking to this Trial