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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.
Collection of clinical data registered in Easily software
Not yet recruiting
Hospices Civils de Lyon
Published on BioPortfolio: 2019-12-07T00:56:45-0500
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...
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...
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. ...
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...
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.
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...
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...
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...
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...
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...
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.
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 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...