Glossary

A committee that makes sure a clinical trial clinical trial: A type of research study that tests how a drug, medical device, or treatment approach works in people. There are several types of clinical trials. Treatment trials test new treatment options. Diagnostic trials test new ways to diagnose a disease. Screening trials test the best way to detect a… is safe for patients in the study. Each medical center, hospital, or research facility doing clinical trials clinical trials: Clinical research is at the heart of all medical advances, identifying new ways to prevent, detect or treat disease. If you have a bone marrow failure disease, you may want to consider taking part in a clinical trial, also called a research study. Understanding Clinical Trials Clinical… must have an active Institutional Review Board Institutional Review Board: A committee that makes sure a clinical trial is safe for patients in the study. Each medical center, hospital, or research facility doing clinical trials must have an active Institutional Review Board (IRB). Each IRB is made up of a diverse group of doctors, faculty, staff and students at a… (IRB). Each IRB is made up of a diverse group of doctors, faculty, staff and students at a specific institution.

A system that turns patient data into a score. The score tells how quickly a myelodysplastic syndrome (MDS) case is progressing and helps predict what may happen with the patient's MDS in the future. Also called IPSS.

A method of getting fluids or medicines directly into the bloodstream over a period of time. Also called IV infusion.

A new drug, antibiotic antibiotic: (an-tee-by-AH-tik) A medicine that fights bacterial infections. When a person with bone marrow failure does not have enough neutrophils, the white blood cells that fight infection, antibiotics may help to prevent and fight infection. drug, or biological drug that is used in a clinical trial clinical trial: A type of research study that tests how a drug, medical device, or treatment approach works in people. There are several types of clinical trials. Treatment trials test new treatment options. Diagnostic trials test new ways to diagnose a disease. Screening trials test the best way to detect a… . It also includes a biological product used in the laboratory for diagnostic purposes. Also called IND.

(kee-LAY-shun) A drug therapy to remove extra iron from the body. Patients with high blood iron (ferritin) levels may receive iron chelation therapy iron chelation therapy: (kee-LAY-shun) A drug therapy to remove extra iron from the body. Patients with high blood iron (ferritin) levels may receive iron chelation therapy. The U.S. Food and Drug Administratin (FDA) has approved two iron chelators to treat iron overload in the U.S. - deferasirox, an oral iron chelator,… . The U.S. Food and Drug Administratin (FDA) has approved two iron chelators to treat iron overload iron overload: A condition that occurs when too much iron accumulates in the body. Bone marrow failure disease patients who need regular red blood cell transfusions are at risk for iron overload. Organ damage can occur if iron overload is not treated. in the U.S. - deferasirox deferasirox: It comes in a tablet form which is dissolved in juice or water and taken by mouth. Iron build-up can occur in patients who get a lot of red blood cell transfusions. Deferasirox binds with the iron in the body and is removed by the kidneys. Bone marrow failure disease patients are at risk for… , an oral iron chelator, and deferoxamine deferoxamine: Deferoxamine is an iron-binding agent that belongs to a class of drugs known as heavy metal antagonists. It works by helping the kidneys and gallbladder get rid of the extra iron. , a liquid given by injection.

A condition that occurs when too much iron accumulates in the body. Bone marrow failure Bone marrow failure: A condition that occurs when the bone marrow stops making enough healthy blood cells. The most common of these rare diseases are aplastic anemia, myelodysplastic syndromes (MDS) and paroxysmal nocturnal hemoglobinuria (PNH). Bone marrow failure can be acquired (begin any time in life) or can be… disease patients who need regular red blood cell red blood cell: The most numerous type of blood cell in healthy people. Red blood cells contain hemoglobin, a protein that picks up oxygen in the lungs and brings it to cells in all parts of the body. Also called erythrocyte, RBC. transfusions are at risk for iron overload iron overload: A condition that occurs when too much iron accumulates in the body. Bone marrow failure disease patients who need regular red blood cell transfusions are at risk for iron overload. Organ damage can occur if iron overload is not treated. . Organ damage can occur if iron overload is not treated.

(iss-KEE-mee-uh) Occurs when the blood supply to specific organ or part of the body is cut off, causing a localized lack of oxygen.

A yellow coloring to the eyes and/or skin due to an increased level of bilirubin bilirubin: (bil-i-ROO-bun) A reddish yellow substance formed when red blood cells break apart. It is found in the bile and in the blood. Yellowing of the skin and eyes can occur with high levels of bilirubin. Also called total bilirubin. , which is a breakdown product of hemoglobin hemoglobin: A protein in the red blood cells. Hemoglobin picks up oxygen in the lungs and brings it to cells in all parts of the body. .

(LAK-tate dee-high-DROJ-uh-nase) An enzyme found in the blood and in many of the body's organs. High levels of LDH in the blood can mean that red blood cells are breaking apart (hemolysis) or that there is tissue damage in the body. It is important for patients with paroxysmal nocturnal hemoglobinuria paroxysmal nocturnal hemoglobinuria: (par-uk-SIZ-muhl nok-TURN-uhl hee-muh-gloe-buh-NYOOR-ee-uh) A rare and serious blood disease that causes red blood cells to break apart. Paroxysmal means sudden and irregular. Nocturnal means at night. Hemoglobinuria means hemoglobin in the urine. Hemoglobin is the red part of red blood cells. A… (PNH) to have their LDH monitored regularly. Also called lactic dehydrogenase, LDH.

(LEW-kuh-site) See white blood cell white blood cell: Cells in the body that fight disease and infection by attacking and killing germs. There are several types of white blood cells including neutrophils, eosinophils, basophils, lymphocytes and monocytes. Each type of cell fights a different kind of germ. Also called WBC, leukocyte. .

A blood thinner blood thinner: A medicine used to stop blood clots from forming. Blood thinners can be used to treat or prevent clots. Some common blood thinners are enoxaprin (Lovenox), heparin (Calciparine or Liquaemin), and warfarin (Coumadin). Also called and anticoagulant or thrombopoiesis inhibitor. , or anticoagulant anticoagulant: (ant-i-ko-AG-yuh-lunt) See blood thinner. , that comes in two forms. Both can be injected underneath the skin, subcutaneously. Heparin Heparin: Heparin is in a class of medications called anticoagulants ('blood thinners'). It works by decreasing the clotting ability of the blood. Heparin is also used to stop the growth of clots that have already formed in the blood vessels, but it cannot be used to decrease the size of clots that have… comes in high (standard unfractionated heparin) or low (fractionated heparin) molecular weights. LMWH might be prescribed for PNH patients at risk for blood clots.

A network of organs, lymph nodes, lymph ducts, and lymph vessels that help keep the body's fluids in balance and help the body fight infection.

A type of white blood cell white blood cell: Cells in the body that fight disease and infection by attacking and killing germs. There are several types of white blood cells including neutrophils, eosinophils, basophils, lymphocytes and monocytes. Each type of cell fights a different kind of germ. Also called WBC, leukocyte. . B lymphoctyes, or B cells, help make special proteins called antibodies that fight bacteria and viruses (immune response). T lymphocytes, or T cells, help kill tumor cells and help the body's immune response.

An Imaging technique that uses a large donut-shaped magnet and radio waves to look at the organs of the body. A doctor may order a this procedure, also called an MRI, to find a blood clot blood clot: A mass of blood that forms when platelets stick together. Harmful blood clots are more likely to happen in PNH. The term thrombus describes a blood clot that develops and attaches to a blood vessel. The term embolus describes a blood clot or other foreign matter that gets into the bloodstream and… . MRI does not use radiation.

Market research study Market research study: Market research study is conducted to understand the patient population by gathering information from patients about their experience with types of treatment, awareness of therapeutic options, resources for making informed decisions, and health care providers and services. This type of research can… is conducted to understand the patient population by gathering information from patients about their experience with types of treatment, awareness of therapeutic options, resources for making informed decisions, and health care providers and services. This type of research can provide insights that may inform product development, improve patient care, and identify unmet needs of patients.

A bone marrow bone marrow: The soft, spongy tissue inside most bones. Blood cells are formed in the bone marrow. /stem cell donor that is a sibling or another family relation to the patient.

A measurement of the average size of a person's red blood cells. If the mean corpuscular volume mean corpuscular volume: A measurement of the average size of a person's red blood cells. If the mean corpuscular volume is high, the red blood cells are larger than normal (macrocytic). If the mean corpuscular volume is low, the red blood cells are smaller than normal (microcytic). Also called MCV. is high, the red blood cells are larger than normal (macrocytic). If the mean corpuscular volume is low, the red blood cells are smaller than normal (microcytic). Also called MCV.

A large bone marrow bone marrow: The soft, spongy tissue inside most bones. Blood cells are formed in the bone marrow. cell that makes platelets, necessary for normal blood clotting.

A procedure similar to standard bone marrow transplant bone marrow transplant: A bone marrow transplant (BMT) is also called a stem cell transplant (SCT) or hematopoietic stem cell transplant (HSCT).The procedure replaces unhealthy blood-forming stem cells with healthy ones and offers some patients the possibility of a cure. But for many patients, a BMT is not an option due… . The mini transplant uses a mild form of chemotherapy chemotherapy: (kee-moe-THER-uh-pee) The use of medicines that kill cells (cytotoxic agents). People with high-risk or intermediate-2 risk myelodysplastic syndrome (MDS) may be given chemotherapy to kill bone marrow cells that have an abnormal size, shape, or look. Chemotherapy hurts healthy cells along with… pre-treatment. This reduces side effects caused by chemotherapy, making it more tolerable to older adults. It does not reduce the risk of graft-versus-host disease. Also called nonmyeloablative transplant.

A type of protein called an antibody that is engineered to look for a specific substance in the body. There are many kinds of monocloncal antibodies. Each one looks for only one substance. Eculizumab Eculizumab: Eculizumab (Soliris ®) is given as an IV into a vein at the doctor’s office or at a special center. The procedure usually takes about 35 minutes. You will probably get an IV once a week for the first 4 weeks. Starting in the 5th week, you will get a slightly higher dose of Soliris every 2 weeks. … (Soliris) is an monoclonal antibody monoclonal antibody: A type of protein called an antibody that is engineered to look for a specific substance in the body. There are many kinds of monocloncal antibodies. Each one looks for only one substance. Eculizumab (Soliris) is an monoclonal antibody that may be prescribed to treat patients with paroxysmal… that may be prescribed to treat patients with paroxysmal nocturnal hemoglobinuria paroxysmal nocturnal hemoglobinuria: (par-uk-SIZ-muhl nok-TURN-uhl hee-muh-gloe-buh-NYOOR-ee-uh) A rare and serious blood disease that causes red blood cells to break apart. Paroxysmal means sudden and irregular. Nocturnal means at night. Hemoglobinuria means hemoglobin in the urine. Hemoglobin is the red part of red blood cells. A… (PNH).

A large white blood cell white blood cell: Cells in the body that fight disease and infection by attacking and killing germs. There are several types of white blood cells including neutrophils, eosinophils, basophils, lymphocytes and monocytes. Each type of cell fights a different kind of germ. Also called WBC, leukocyte. . Monocytes move through the blood to the tissues where they become macrophages. Macrophages are immune cells that surround and kill germs such as bacteria and viruses.

Describes the loss of one of the two number 7 chromosomes chromosomes: The part of the cell that contains our DNA or genetic code. . "Mono" means one and "somy" comes from the word chromosome. A laboratory test called fluorescence in situ hybridization fluorescence in situ hybridization: (flor-EH-sense in SIT-tyoo hy-bru-duh-ZAY-shun) An important laboratory test used to help doctors look for chromosomal abnormalities and other genetic mutations. Fluorescence in situ hybridization, also called FISH, directs colored light under a microscope at parts of chromosomes or genes. Missing… (FISH) detects monosomy 7 monosomy 7: Describes the loss of one of the two number 7 chromosomes. "Mono" means one and "somy" comes from the word chromosome. A laboratory test called fluorescence in situ hybridization (FISH) detects monosomy 7 and other genetic abnormalities. Monosomy 7 can occur in adult patients… and other genetic abnormalities. Monosomy 7 can occur in adult patients with MDS and can occur in childhood bone marrow failure bone marrow failure: A condition that occurs when the bone marrow stops making enough healthy blood cells. The most common of these rare diseases are aplastic anemia, myelodysplastic syndromes (MDS) and paroxysmal nocturnal hemoglobinuria (PNH). Bone marrow failure can be acquired (begin any time in life) or can be… .

The study of the structure and form of an organism or one of its parts.

Any change or alteration in a gene. A mutation mutation: Any change or alteration in a gene. A mutation may cause disease or may be a normal variation. Paroxysmal nocturnal hemoglobinuria (PNH) occurs because of a mutation in the PIG-A gene of a single stem cell in the bone marrow. may cause disease or may be a normal variation. Paroxysmal nocturnal hemoglobinuria Paroxysmal nocturnal hemoglobinuria: (par-uk-SIZ-muhl nok-TURN-uhl hee-muh-gloe-buh-NYOOR-ee-uh) A rare and serious blood disease that causes red blood cells to break apart. Paroxysmal means sudden and irregular. Nocturnal means at night. Hemoglobinuria means hemoglobin in the urine. Hemoglobin is the red part of red blood cells. A… (PNH) occurs because of a mutation in the PIG-A gene PIG-A gene: The gene that is in charge of making a protective shield of proteins on normal red blood cells. Paroxysmal nocturnal hemoglobinuria (PNH) occurs because of a change (mutation) in the PIG-A gene of a single stem cell in the bone marrow. of a single stem cell in the bone marrow bone marrow: The soft, spongy tissue inside most bones. Blood cells are formed in the bone marrow. .

(my-eh-lo-diss-PLASS-tik SIN-dromez) A group of disorders where the bone marrow bone marrow: The soft, spongy tissue inside most bones. Blood cells are formed in the bone marrow. does not work well, and the bone marrow cells fail to make enough healthy blood cells. Myelo refers to the bone marrow. Dysplastic means abnormal growth or development. People with MDS have low blood cell count for at least 1 blood cell type. Also, the bone marrow and blood contain blood cells with an abnormal shape, size, or look. Symptoms vary greatly from person to person. The differences depend on which blood cells are affected.