Glossary
This is a collection of words or phrases that you may hear your doctor mention, or you may see during your research into Type 1 Gaucher disease.
Active-controlled
a known, effective drug or treatment that is compared with the drug or treatment being investigated
Adverse reaction
side effect or unwanted effect that is possibly related to a drug
Amino acid
the building blocks of proteins; the body links amino acids together in specific ways to build proteins
Anaphylaxis
a severe, potentially life-threatening allergic reaction
Anemia
low levels of red blood cells
Antibody
a protective protein produced by your immune system in response to foreign substances
Baseline
a predefined early time point of a clinical study used to compare changes against; this could be the start of the study
Carrier
an individual who “carries” and can pass on a gene associated with a disease or a trait that is inherited by their children
Clinical study/Clinical trial
a research study involving human volunteers that investigates a drug or treatment
Contraindication
a specific medical condition that is a reason for a person not to receive a particular drug or treatment, as it may be harmful
Double-blind
a type of clinical study in which participants are assigned to treatment groups, and neither the participants nor the investigators know which treatment they receive
Drug–drug interaction
a reaction that occurs between two or more drugs
Endpoint
a research objective of a clinical study; clinical studies will have a primary endpoint, which is the main research objective, and secondary endpoints
Enzyme
a complex protein that speeds up a specific chemical reaction
Enzyme replacement therapy (ERT)
a treatment that works by replacing the missing or deficient enzyme in a patient
Extension study
a scenario where participants in an initial study continue to take the study drug or treatment for a further period to continue the investigation
Gaucher (GO-SHAY) cells
normal cells that become full of unprocessed glucocerebroside and accumulate primarily in the spleen, liver, and bone marrow, causing organ inflammation and dysfunction
Gaucher disease
an inherited disorder that affects many of the body’s organs and tissues
Gene
a sequence of nucleotides that forms the basic structural unit of deoxyribonucleic acid (DNA); genes provide instructions to make molecules called proteins, and every person has two copies of each gene, one inherited from each parent
Genetic counselor
a healthcare professional who can guide and support patients seeking more information about how inherited diseases and conditions might affect them, and can help to explain what test results mean
Genetic screening
a medical test that can confirm or rule out a suspected genetic condition or help determine a person’s chance of developing or passing on a genetic disorder
Genetic testing
the study of a person’s DNA in order to identify genetic changes that could increase the risk of diseases
Geneticist
a doctor who provides comprehensive diagnostic, management, and genetic counseling services for patients with genetic disorders
Glucocerebrosidase (GLOO-ko-SER-e-bro-sy-daze)
an enzyme that helps break down a large molecule called glucocerebroside; people with Gaucher disease have insufficient levels of this enzyme
Glucocerebroside (GLOO-ko-SER-e-bro-side)
a fatty substance that accumulates in cells affected by Gaucher disease throughout the body
Hematologist
a specialist medical doctor with extra training in disorders related to blood, bone marrow, and the lymphatic system
Hemoglobin (HEE-moh-GLOH-bin)
a protein inside red blood cells that carries oxygen from the lungs to tissues and organs in the body and carries carbon dioxide back to the lungs
Hepatologist
a specialist medical doctor who diagnoses, treats, and manages problems associated with the liver, gallbladder, bile ducts, and pancreas
Hypersensitivity reaction
an extreme or unnecessary immune response that the body experiences in response to a toxic or foreign substance
Infusion(in-FYOO-zhun)
the injection of medication through a needle or catheter, usually intravenously into a vein
Infusion center
a site of care that focuses specifically on medicines delivered using infusions, usually intravenously
Internist
a medical doctor who specializes in the internal organs and systems of the body
Intravenous
taking place within or being administered into a vein
Mutation
a change in a DNA sequence that can be passed on to offspring
Neurologist
a medical doctor who diagnoses and treats problems related to the brain and nervous system
Noninferiority
a clinical study that investigates whether a new treatment is no worse than an active treatment that it is being compared with
Open-label
a type of clinical study in which participants and investigators both know which treatment participants are receiving
Placebo
an inactive substance or treatment that looks the same and is given in the same ways as an active drug or treatment being investigated
Platelet
blood cells that form in your bone marrow (a sponge-like tissue in your bones) and play a major role in blood clotting
Protein
molecules made up of amino acids that have various functions around the body
Randomized
a type of clinical study in which patients are randomly assigned to treatment groups
Single-arm
a type of clinical study in which all participants receive the same drug or treatment