A naturally occurring virus that is modified for use in gene therapy to carry new DNA to cells. AAV is not known to cause illness in humans. See Viral Vector.
Adeno-associated Virus (AAV)
A negative change in health associated with treatment with an approved or investigational therapy.
The basic building blocks of your body’s tissues that carry on the essential functions of life. Cells come in a variety of shapes and sizes depending on the tissue (muscle, skin, liver, etc.) and are specialized to perform a variety of different jobs within the body. Each cell contains its own machinery (called organelles) to do the work needed to keep the cell healthy and functioning properly.
See clinical trial.
A scientific study of an investigational product (such as a drug or vaccine) to see whether it is safe and works as intended (efficacy), conducted in people who consent to be in the study. Regulatory agencies like the U.S. Food and Drug Administration (FDA) or European Medicines Agency (EMA) that review and approve new treatments, vaccines, etc. usually require that clinical trials be conducted in a series of phases:
- Phase 1 clinical trials study an investigational product in humans for the first time. Typically Phase 1 clinical trials are small and focus on safety, side effects, dosage and delivery method, although many also test whether the drug may work as intended (efficacy).
- Phase 2 clinical trials also study an investigational product’s safety and efficacy in a larger group of participants.
- Phase 3 clinical trials typically confirm an investigational product’s efficacy and safety, and sometimes compare it against other therapies, in a large group of patients for a longer period of time.
- Phase 4 clinical trials are done after an investigational product has received approval from a regulatory agency and has been brought to market, further evaluating long term side effects, benefits and potential new uses for other conditions.
The genetic material that is passed from parent to child and provides the “blueprint” for making all the proteins in the body. The instructions in DNA are unique to an individual (except identical twins) and influence characteristics like eye color, height or risk of developing certain diseases.
Duchenne muscular dystrophy
DMD is a genetic, muscle-wasting disease predominantly affecting boys with symptoms that usually manifest between three and five years of age. DMD is a progressive, irreversible and ultimately fatal disease that affects approximately one in every 3,500 to 5,000 live male births. DMD is caused by mutations in the dystrophin gene, which result in the absence or near-absence of dystrophin protein. Without functioning dystrophin and certain associated proteins, muscles suffer excessive damage from normal daily activities and are unable to regenerate, leading to the build-up of fibrotic, or scar, and fat tissue. There is no cure for DMD and, for the vast majority of patients, there are no satisfactory symptomatic or disease-modifying treatments.
A protein that is critical for maintaining the health of muscle cells and protecting them from injury when muscles contract and relax. In Duchenne muscular dystrophy, a defect in the gene for dystrophin results in the absence or near-absence of dystrophin protein in muscle.
European Medical Agency (EMA)
An agency of the European Union (EU), located in London. EMA is responsible for the scientific evaluation, supervision and safety monitoring of medicines in the EU. See www.ema.europa.eu for further information.
Food & Drug Administration (FDA)
An agency within the U.S. Department of Health and Human Services located in Washington, D.C. One of the FDA’s functions is to protect public health by assuring the safety, effectiveness, quality and security of drugs, vaccines and other biological products, as well as medical devices. See www.fda.gov for further information.