Choroideremia: eye condition that impairs the vision of about 1 in 50,000 males who begin to experience difficulty seeing at night during their teens. Peripheral vision loss becomes prominent and often leads to legal blindness by the age of 40. It is rare for female carriers of CHM to be severely affected.
Clinical trial: For the purposes of registration, a clinical trial is any research study that prospectively assigns human participants or groups of humans to one or more health-related interventions to evaluate the effects on health outcomes. Clinical trials may also be referred to as interventional trials. Interventions include but are not restricted to drugs, cells and other biological products, surgical procedures, radiologic procedures, devices, behavioural treatments, process-of-care changes, preventive care, etc. (WHO website, accessed November 9, 2012)
CLIA: Clinical Laboratory Improvement Act/Amendment is a set of testing standards that clinical genetic testing facilities are required to meet. A CLIA- approved facility where testing is provided for a fee and results are reported in writing to the referring ophthalmologist or genetic counsellor.
Expression: the translation of a gene’s coded information into the structures present and functioning in the cell (Genetic Home Reference, accessed November 14, 2012)
Gene therapy: an experimental technique that uses genes to treat or prevent diseases caused by a mutated gene that is not working properly (Genetic Home Reference, accessed November 10, 2017)
Genome: the complete set of an organism’s genetic information (Genetic Home Reference, accessed November 14, 2012)
Good clinical practice guidelines: an international quality standard that is provided by International Conference on Harmonisation (ICH), an international body that defines standards, which governments can transpose into regulations for clinical trials involving human subjects. The main focus of GCP guidelines is the protest of human rights as a subject in clinical trials. It also provides assurance of the accuracy and reliability of the data collected from clinical trials. Good GCP guidelines include standards on how clinical trials should be conducted; define the roles and responsibilities of clinical trial sponsors, clinical research investigators, and monitors. (Population Health Research Institute, accessed November 14, 2012)
Human gene transfer: Deliberate transfer of DNA or other genetic material into a person (National Institutes of Health, accessed November 14, 2012)
In vivo: Located or taking place in a living organism (Genetic Home Reference, accessed November 14, 2012)
Vector: a DNA molecule used to transport foreign genetic material into a cell (Genetic Home Reference, accessed November 14, 2012)