Glossary
Participant
Person with Rare Disease
Phenotype
The set of observable characteristics (what you see) of an individual resulting from the interaction of its genotype with the environment.
Genotype
The term "genotype" refers to the genetic makeup of an organism; in other words, it describes an organism's complete set of genes.
Institutional Review Board (IRB)
All content in this registry is IRB approved
Under FDA regulations, an Institutional Review Board is group that has been formally designated to review and monitor biomedical research involving human subjects. In accordance with FDA regulations, an IRB has the authority to approve, require modifications in (to secure approval), or disapprove research. This group review serves an important role in the protection of the rights and welfare of human research subjects.
Natural History Study
A study that follows a group of people over time who have, or are at risk of developing, a specific medical condition or disease. A natural history study collects health information in order to understand how the medical condition or disease develops and how to treat it.
Clinical Diagnosis
The estimated identification of the disease underlying a patient's complaints based merely on signs, symptoms and medical history of the patient rather than on laboratory examination or medical imaging.
Human Biospecimens
A human biospecimen is any natural material from the human body, such as tissue, blood, and urine. Biospecimens are usually obtained during diagnostic test or a procedure, such as surgery or a blood draw. Patients may give permission so that a small amount of a biospecimen can be stored and used for research. These are designated as research biospecimens. Biospecimens contain molecules that can be analyzed for indications of diseases. Biospecimens may confirm whether a disease is present or absent in a particular person, and research on biospecimens is especially helpful for understanding more about how disease processes may start and progress. This understanding may lead to better detection of diseases at the earliest stages and may permit design of more effective treatments.
Clinical Study / Clinical Trial
A clinical study involves research using human volunteers (also called participants) that is intended to add to medical knowledge. There are two main types of clinical studies: clinical trials (also called interventional studies) and observational studies.
In a clinical trial, participants receive specific interventions according to the research plan or protocol created by the investigators. These interventions may be medical products, such as drugs or devices; procedures; or changes to participants' behavior, such as diet. Clinical trials may compare a new medical approach to a standard one that is already available, to a placebo that contains no active ingredients, or to no intervention. Some clinical trials compare interventions that are already available to each other. When a new product or approach is being studied, it is not usually known whether it will be helpful, harmful, or no different than available alternatives (including no intervention). The investigators try to determine the safety and efficacy of the intervention by measuring certain outcomes in the participants.