Orphan Drugs: In Development

Glossary

acne rosacea-A chronic face disorder
characterized by flushing, burning and
stinging, and inflammatory papules or
pustules. It affects about 1 in 500 people,
most commonly middle-aged women.
acquired immune deficiency syndrome (AIDS)-A manifestation of infection with the human immunodeficiency 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.
adenosine deaminase deficient (ADA
deficiency)-Inherited enzyme deficiency
disease in newborns that results in a partial or total dysfunction of the immune
system, leaving newborns unable to resist
common infections.
adjunct-An auxiliary treatment that is
secondary to the main treatment.
adjuvant-A substance or drug that aids
another substance in its action.
agonist-A drug that competes with a
nerve receptor producing a typical
response.
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 glycoprotein), 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.
amenorrhea-Absence of cyclic menstrual periods, often due to failure to
ovulate. Hypothalamic amenorrhea is
caused by hypogonadotropic hypogonadism-deficiency or absence of
pulsatile gonadotropin-releasing hormone (GnRH), which stimulates cell
activity in the ovaries. Gonadotropin
therapy refers to treatment with GnRH
to induce ovulation and aid fertility.
(Blockage of Fallopian tubes-bilateral
tubal occlusion-also causes infertility.)
amyotrophic lateral sclerosis (ALS)Also known as Lou Gehrig's disease. It is
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.
anorexia-Prolonged loss of appetite
that leads to significant weight loss.
antithrombin III (AT-III) deficiencyToo little AT-III enzyme, which neutralizes
factors that coagulate blood, can cause
thrombosis (blood clot within an intact
blood vessel), pulmonary embolism
(blood clot obstructing pulmonary artery)

and thromboembolism (fragment of

thrombosis that has traveled to another
place in the body).
antithrombotic-A drug that breaks
down blood clots that have formed in
the body.
aplastic anemia-Caused by failure of
the bone marrow to produce red blood
cells. Condition can be fatal if left
untreated.
application submitted-An application
for marketing has been submitted by the
sponsor to the Food and Drug
Administration.
attenuation-A reduction in the severity
or virulence of a disease or organism.
bacteremia-Presence of bacteria in the
blood stream. Bacteria (anaerobic) causing gram-negative bacteremia release
poison after they die, produce fever, and
cause 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.
BCNU-A generic anticancer drug, also
known as carmustine.
blepharospasm-Involuntary, prolonged contraction of an eyelid muscle
that causes almost complete eye closure.
buccal cavity-The cavity formed by
the cheeks and mouth.
cachexia-Profound state of general ill
health characterized by malnutrition,
weakness and emaciation.
calculi, renal and bladder-Stones
formed or present in the kidneys or bladder caused by dissolved substances in the
urine. Apatite, struvite, and uric acid
varieties refer to specific composition
of the calculi.
cancer, germ cell-Localized proliferation of cells that are immature forms of
either sperm or ova, which can produce
abnormal levels of alpha-fetoprotein
(AFP) (normally produced in the fetus).
Trophoblastic cell tumors arise from
tissues that form the placenta and can
produce human chorionic gonadotropin (HCG) (a hormone normally produced by the placenta in early pregnancy
and essential to a healthy pregnancy).
Both AFP and HCG can be monitored to
assess treatment or recurrence of tumors.
carcinoma-Cancer. Invasive carcinoma
has spread, or has the tendency to spread,
throughout body tissues. 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.
carnitine deficiency-Lack of a particular constituent in muscle and liver
tissue, causing tissue to use oxygen
inefficiently.
catabolism-Metabolism involving the

release of energy, resulting from the

breakdown of complex materials.
causalgia-Persistent burning pain,
usually in a limb, resulting from a penetrating nerve injury. The sympathetic
nervous system controls many involuntary
activities of the body, including caliber
of blood vessels and actions of nerve
cells in response to stimuli (reflexes).
Restriction of nerve cell activity or blood
vessels causes inadequate nutrition of
tissues, resulting in reflex sympathetic
dystrophy.
cerebral palsy-A general term for
disorders of movement and posture
resulting from damage to the brain in
pregnancy, during birth, in the newborn
period, or in early childhood.
cervical dystonia-Disorder or lack of
muscle tone in the muscles of the neck.
Charcot-Marie-Tooth disease-An
inherited muscle-wasting disease that
mainly affects the legs. It is more common in boys and usually appears in late
childhood or adolescence.
colitis-Inflammation of the colon (large
intestine) causing diarrhea, usually vwith
blood and mucous, and sometimes with
abdominal pain and fever. Colitis may be
due to a variety of causes, including infection by a virus, amoeba, or a bacterium
that produces toxins that irritate the
intestinal lining. Antibiotic therapy for
more than two weeks may result in a
form of colitis caused by the bacterium
Clostridium difficile, which produces
an irritating toxin. This toxin causes the
lesion of pseudomembranous enterocolitis, which is characterized by profuse watery diarrhea with cramps and
low-grade fever. Ulcerative colitis is
chronic inflammation and ulceration of
the lining of the colon and rectum. It
causes bloody diarrhea and mainly
involves the left colon.
corneal disease-Disorders affecting
the cornea, a transparent thin-walled
dome forming the front of the eyeball. A
corneal ulcer is a break, erosion or
open sore in the outer layer (epithelium),
which sometimes extends into the middle
layer. Squamous metaplasia refers to
transformation of the flat cells of the
ocular surface epithelia, which consists of the cornea and the conjunctivathe mucous membrane covering the
white of the eye.
cryptococcal meningitis-A fungal
infection that affects the three membranes
(meninges) surrounding the brain and
spinal cord. Symptoms include severe
headache, vertigo, nausea, anorexia, sight
disorders and mental deterioration.
Cryptosporidium parvum-The protozoan parasite that causes cryptosporidial
diarrhea, characterized by chronic, profuse, watery diarrhea accompanied by
fever, marked weight loss and enlarged

lymph nodes.

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