Glossary of Terms - Rare Diseases

Glossary of Terms - Rare Diseases

PhRMA April 9, 2013

acquired immune deficiency syndrome (AIDS)—A manifestation of infection with the human inimunodeficiency virus (HIV) characterized by the presence of one or more opportunistic diseases which occur primarily, or in some cases only, when an individual’s immune system function is defective.

adenocarcinoma—Cancer of glandular tissue, or tumor of which gland derived cells form glandlike structures.

adipose redistribution syndrome—A group of rare metabolic disorders which can be either inherited or acquired. They are characterized by abnormalities in fatty (adipose) tissue associated with total or partial loss of body fat, abnormalities of carbohydrate and lipid metabolism, severe resistance to naturally occurring and synthetic insulin, and immune system dysfunction. These disorders are differentiated by degrees of severity, and by areas or systems of the body affected. They can also be associated with other disorders and various developmental

abnormalities. adjunct—An auxiliary treatment that is secondary to the main treatment.

adjuvant—A substance or drug that aids another substance in its action.

alpha 1-proteinase inhibitor deficiency—Although it is a rare condition, some people are congenitally deficient in alpha 1-proteinase inhibitor (or alpha 1-trypsin, a glyco- protein), which predisposes them to pulmonary emphysema early in life, even in the absence of exposure to substances (like cigarette smoke) that interfere with lung-defense mechanisms.

amyotrophic lateral sclerosis (ALS)—Also known as Lou Gehrig’s disease, the most common of the motor neuron diseases, a group of rare disorders in which the nerves that control muscular activity degenerate within the brain and spinal cord causing weakness and wasting of the muscles.

anaplastic thyroid carcinoma—An aggressive, invasive form of cancer of the thyroid gland. It occurs most often in people over age 60. The cause is unknown. Anaplastic cancer accounts for only about 1 percent of all thyroid cancers and is a very rare disease.

application submitted—An application for marketing has been submitted by the company to the Food and Drug Administration (FDA).

aspergillosis—Infection caused by aspergillus, a fungus sometimes found in old buildings or decaying plant matter.

bacteremia—Presence of bacteria in the blood stream. The bacteria (anaerobic) that cause gram negative bacterermia release poison after they die. This results in fever, and causes fluid to leak from more permeable walls of blood capillaries into surrounding tissues. Endotoxic shock, a serious drop in blood pressure, can result.

B-cell—A class of white blood cells important to the body’s immune system.

candidiasis—A fungal (Candida) infection, usually of the moist cutaneous areas of the body, including the skin, mouth, esophagus and respiratory tract.

carcinoma—Cancer. Squamous cell carcinoma is one of the three most common types of skin cancer, arising from the flattened, scalelike cells in the skin and resulting primarily from long-term exposure to the sun.

cerebral palsy—A general term for disorders of movement and posture resulting from damage to the brain in pregnancy, during birth, in the new- born period, or in early childhood.

cervical dystonia—Disorder or lack of muscle tone in the muscles of the neck.

cutaneous—Pertaining to the skin.

cystic fibrosis—A genetic disorder of the exocrine glands (such as sweat glands or kidneys) that causes abnormal mucous secretions that obstruct glands and ducts in various organs.

cystinosis—Cystine, an amino acid, accumulated in internal organs, resulting in damage and cystinuria (presence of cystine in urine).

cytomegalovirus (CMV)—A DNA virus that can cause infection without symptoms or with mild flu-like symptoms.

dysplasia, bronchopulmonary— Abnormal growth of the cells of the lungs and air passages associated with exposure of immature lungs to high levels of oxygen.

epidermolysis bullosa—A rare, inherited condition in which blisters appear on the skin after minor damage. It mainly affects young children and has a wide range of severity.

esophageal varices, bleeding— Dilated, weakened veins in walls of the lower part of the esophagus, which can rupture and cause acute bleeding.

Fabry disease—A genetic metabolic disorder that causes build up of certain lipids. It becomes clinically apparent in childhood and adolescence with fever, pain and small vascular tumors. It progresses to central nervous system disturbances and renal and cardiac failure in mid-life.

Fast Track—A process designed to facilitate the development and expedite the review of drugs to treat seri- ous diseases and fill an unmet medical need. The status is assigned by the U.S. Food and Drug Administration. The purpose is to get important new drugs to the patient earlier. Fast Track addresses a broad range of serious diseases. Generally, determining factors include whether the drug will have an impact on such factors as survival, day-to-day functioning, or the likelihood that the disease, if left untreated, will progress from a less severe condition to a more serious one. Filling an unmet medical need is defined as providing a therapy where none exists or providing a therapy which may be potentially superior to existing therapy. Once a drug receives Fast Track designation, early and frequent communication between the FDA and a drug company is encouraged throughout the entire drug development and review process. The frequency of communication assures that questions and issues are resolved quickly, often leading to earlier drug approval and access by patients.

Friedreich’s ataxia—An inherited disease that causes progressive damage to the nervous system resulting in symptoms ranging from gait disturbance and speech problems to heart disease. “Ataxia,” which refers to coordination problems such as clumsy or awkward movements and unsteadiness, occurs in many different diseases and conditions. The ataxia of Friedreich’s ataxia results from the degeneration of nerve tissue in the spinal cord and of nerves that control muscle movement in the arms and legs. The spinal cord becomes thinner and nerve cells lose some of their myelin sheath— the insular covering on all nerve cells that helps conduct nerve impulses. The condition, although rare, is the most prevalent inherited ataxia, affecting about 1 in every 50,000 people in the United States.

Gaucher disease—An inherited dis- ease caused by a lack or deficiency of an enzyme (glucocerebrosidase). Primarily affects the liver, spleen and bone marrow.

glioblastoma multiforme—The most common and most malignant of the astrocytomas. The tumor grows so fast that it increases pressure in the brain, producing headaches, slowed thinking, and if severe enough, sleepiness and coma.

glioma—A type of brain tumor arising from the supporting glial cells within the brain. Gliomas make up about 60 percent of all primary brain tumors and are frequently malignant.

graft vs. host disease—In bone mar- row transplantation, normal bone marrow is used to replace malignant or defective marrow. In an allogeneic transplantation, healthy marrow is taken from a donor; in an autologous transplantation, the patient’s own healthy marrow is used. In graft vs. host disease, a complication of such transplants, immune system cells attack the transplant recipient’s tissues.

hematopoietic support—Helping the body to form blood or blood cells.

hepatic—Related to the liver.

hepatitis—Inflammation of the liver with accompanying liver cell dam- age or death, caused most often by viral infection (e.g., types B and C), but also by certain drugs, chemicals or poisons. Hepatitis may be either acute (of limited duration) or chronic (continuing).

hepatocellular—Pertaining to the cells in the liver.

hepatocellular cancer/carcinoma— A cancer that begins in the liver cells.

histoplasmosis—A disease caused by a fungal infection that can affect all organs of the body.

HIV—Human immunodeficiency virus, the virus that causes AIDS.

Huntington’s disease—Huntington’s chorea is an uncommon, inherited disease in which degeneration of the basal ganglia (structures deep in the brain) results in chorea (rapid, jerky, involuntary movements) and dementia (progressive mental impairment). Symptoms do not usually appear until the age of 35 to 50.

hypercholesterolemia (homozygous familial)—An inherited metabolic disorder resulting in an abnormal amount of cholesterol in the blood. It can lead to accelerated atherosclerosis and early heart attack. Dietary treatment seldom helps in these cases.

immune thrombocytopenia purpura—A condition in which there is destruction of blood platelets by the immune system. The reduced number of platelets may result in abnormal bleeding into the skin (purpura) and other parts of the body.

Lennox-Gastaut syndrome— Characterized by seizures and mental retardation in infants and young children.

leukemia—A form of cancer involving abnormally growing white blood cells, which dominate the bone mar- row and prevent it from making enough normal blood cells. This leaves the patient highly susceptible to serious infections, anemia and bleeding episodes. The cells increase in the blood, interfering with the function of other organs.

lymphoma—Cancers in which the cells of lymphoid tissue, found mainly in the lymph nodes and spleen, multiply unchecked. Lymphomas fall into two categories: One is called Hodgkin’s disease, characterized by a particular kind of abnormal cell. All others are called non Hodgkin’s lymphomas, which vary in their malignancy according to the nature and activity of the abnormal cells. B and T-cell lymphomas are caused by proliferation of the two principal types of white blood cells, called B- and T-lymphocytes. Mycosis fungoides is a type of lymphoma that primarily affects the skin of the buttocks, back or shoulders but can also occur in other sites. The cause is unknown.

melanoma—A cancer made up of pigmented skin cells.

metastases—Secondary cancers that have spread from the primary or original cancer site.

methotrexate—An anticancer drug.

mucositis—The swelling, irritation, and ulceration of the mucosal cells that line the digestive tract. Mucositis can occur anywhere along the digestive tract from the mouth to the anus. It can be a very troublesome and painful side effect of chemotherapy.

multiple myeloma—A malignant condition characterized by the uncontrolled proliferation and dis- ordered function of plasma cells (a type of white blood cell) in the bone marrow. It occurs in middle to old age and leaves patients vulnerable to increased infections and anemia.

multiple sclerosis (MS)—Progressive disease of the central nervous system in which scattered patches of the covering of nerve fibers (myelin) in the brain and spinal cord are destroyed. Symptoms range from numbness and tingling to paralysis and incontinence.

muscular dystrophy—Inherited muscular disorder of unknown cause in which muscle fibers slowly degenerate. Duchenne MD is the most common type.

myasthenia gravis—A chronic autoimmune neuromuscular disease characterized by varying degrees of weakness of the skeletal (voluntary) muscles of the body. The hallmark of myasthenia gravis is muscle weakness that increases during periods of activity and improves after periods of rest. Certain muscles such as those that control eye and eyelid movement, facial expression, chewing, talking, and swallowing are often, but not always, involved in the disorder. With current therapies, most cases of myasthenia gravis are not as “grave” as the name implies. For the majority of individuals with the disease, life expectancy is not lessened by the disorder.

neuropathic pain—Caused by disease, inflammation, or damage to the peripheral nerves, which connect and spinal cord) to the sense organs, muscles, glands, and internal organs.

neuropathy—Disease, inflammation, or damage to the peripheral nerves, which connect the central nervous system to the sense organs, muscles, glands, and internal organs.

papillomavirus/papillomatosis—The papillomavirus is the viral agent of warts, believed to be contagious and mostly harmless, affecting only the skin’s topmost layer.

Parkinson’s disease—Chronic neurologic disease of unknown cause, characterized by tremors, rigidity and an abnormal gait. The most common variety is idiopathic Parkinson’s disease.

Phase I—Safety testing and pharmacological profiling of new drugs in small numbers of humans.

Phase II—Effectiveness testing and identification of side effects of new drugs in humans.

Phase III—Extensive clinical trials in humans to verify effectiveness and monitor adverse reactions of new drugs.

Phase IV—Additional post-marketing testing of drugs sometimes required by the FDA.

photodynamic therapy (PDT)—A treatment that uses a drug, called a photosensitizer or photosensitizing agent, and a particular type of light. When photosensitizers are exposed to a specific wavelength of light, they produce a form of oxygen that kills nearby cancer cells.

postherpetic neuralgia—A burning pain that may recur at the site of an attack of shingles months or even years after the illness.

precocious puberty—Onset of early puberty. It can be a normal variant or familial trait, or be caused by serious diseases, such as hypothalamic lesions, encephalitis and some tumors. If not detected early, children may be dwarfed.

prophylaxis—Treatment intended to preserve health and prevent the spread of disease.

pulmonary—Pertaining to the lungs.

renal—Relates to kidneys.

respiratory distress syndrome (RDS) —Lung disorder of premature infants characterized by respiratory distress and cyanosis (lack of oxygen in blood). RDS is caused by a deficiency of surfactant, a substance that coats the inner lining of the lungs and prevents them from collapsing during exhalation.

retinitis pigmentosa—Degeneration in both eyes of the rods and cones of the retina—the light-sensitive membrane that lines the inside of the back of the eye on which images are cast by the cornea and lens. Usually has a genetic basis. The first symptom is usually night blindness, progressing to a ring-shaped area of blindness that gradually extends to lessen the field of vision.

sickle cell anemia/disease—Inherited blood disorder in which red cells are abnormal in shape and contain an abnormal oxygen-carrying pigment called hemoglobin S, resulting in chronic, severe anemia and the characteristic sickle shape of the red cell. Caused by mutation of the gene that codes for hemoglobin. systemic—Affecting the whole body.

xeroderma pigmentosa—A rare, inherited skin disease caused by extreme sensitivity to sunlight, which causes the skin to become dry, wrin- kled, freckled and prematurely aged by about the age of five. Various types of benign and malignant skin tumors also develop.