Fact Sheets
Selected Examples of Orphan Drugs in Development for Rare Diseases
Cancer, Stomach – Gastrointestinal stromal tumor (GIST) is a rare cancer affecting the digestive tract or the abdomen. GIST is a sarcoma (a cancer of the connective tissue or supportive tissue, such as bone, cartilage, fat, muscle, blood vessles and soft tissue), affecting about 4,000 people each year in the United States. It is believed to be caused by random, genetic mutations in the cell surface proteins called tyrosine kinase receptors. One medicine in development targets and inhibits multiple kinases involved in the formation of blood vessels (angiogenesis) and appears to reduce tumor growth.
CIAS1-associated periodic syndromes (CAPS) – A genetic auto inflammatory disorder that encompasses several rare diseases associated with mutations in the CIAS1 gene. Inflammatory symptoms of CAPS are due to mutations in the gene called “cryopyrin” (CIAS1). These mutations result in the body’s overproduction of interleukin-1 (IL-1), a protein that stimulates the inflammatory process. In excess, this protein can be harmful and has been linked to a variety of inflammatory diseases. One medicine in development is designed to attach to and neutralize the protein in the blood stream before it can attach to cell-surface receptors and generate signals that can trigger disease. Once the protein is attached to the medicine it cannot bind to cell surface receptors and is flushed from the body.
Epidermolysis bullosa (EB) – A group of inherited skin diseases where painful blisters and open sores develop in response to minor trauma. In severe cases, it can involve the eyes, tongue, and esophagus, and can produce scarring and disabling musculoskeletal deformities. One of every 50,000 live births is affected by some type of EB. A synthetic version of a molecule originally isolated from the thymus gland is a regulating molecule found in mammalian cells and plays an important role in the regeneration, remodeling, and healing of injured or damaged tissues.
Friedreich’s ataxia – A genetic, neurodegenerative disorder that can affect many systems in the body. Onset of symptoms is usually between the ages of five and 15. About 50,000 people in the United States have the disease. It is characterized by muscle weakness and loss of coordination (ataxia) in the arms and legs; vision impairment, hearing loss, and slurred speech; aggressive scoliosis (curvature of the spine); diabetes or carbohydrate intolerance; and an enlarged heart (cardiomyopathy). These symptoms reflect the death of cells in certain parts of the nervous system as a result of cell (mitochondrial) dysfunction. One small molecule in development may be able to prevent cell damage and increase the production of energy within impaired nerve a muscle tissue through preserving mitochondrial function and protecting cells from stress.
Lennox-Gastaut syndrome – A severe form of epilepsy that is characterized by frequent episodes of seizures and, in many cases, abnormal delays in coordination of mental and muscular activity. Seizures usually begin before four years of age. Seizure types, which vary among patients, include tonic (stiffening of the body, upward deviation of the eyes, dilation of the pupils, and altered respiratory patterns), atonic (brief loss of muscle tone and consciousness, causing abrupt falls), atypical absence (staring spells), and myoclonic (sudden muscle jerks). There may be periods of frequent seizures mixed with brief, relatively seizure-free periods. Lennox-Gastaut syndrome can be caused by brain malformations, perinatal asphyxia, severe head injury, central nervous system infection and inherited degenerative or metabolic conditions. In 30-35 percent of cases, no cause can be found. An estimated 1,400 to 4,500 new cases of the syndrome are diagnosed each year in the U.S. One medicine in development is focused on treating the seizures associated with the disease and has shown to reduce seizure frequency.
Leukemia – Chronic lymphocytic leukemia (CLL) affects about 10,020 people each year in the United States. CLL results from an injury to the DNA of a single cell, a lymphocyte, in the bone marrow. The condition is not present at birth and scientists do not yet understand what causes the change in the DNA. A monoclonal antibody in development works by binding a protein to certain tumor cells to enhance the destruction of the tumors and prevent its growth and survival. This process stimulates the body’s immune system to attack and kill the tumor cells. The medicine is also being tested in multiple myeloma, a cancer of the plasma cells. Plasma cells, part of the immune system, are one type of white blood cells. About 16,570 new cases of myeloma are diagnosed each year in the United States.
Sarcoidosis – A multi-system, autoimmune disorder characterized by the abnormal formation of inflammatory masses or modules (granulomas). Virtually any organ can be affected; however, granulomas most often appear in the lungs or the lymph nodes. Symptoms can occasionally appear suddenly but usually appear gradually. When viewing x-rays of the lungs, sarcoidosis can have the appearance of tuberculosis or lymphoma. One medicine in development targets specific proteins in the body’s immune system to help control the development of inflammation. The medicine attaches to and blocks the action of the protein.
February 2007
Cancer, Stomach – Gastrointestinal stromal tumor (GIST) is a rare cancer affecting the digestive tract or the abdomen. GIST is a sarcoma (a cancer of the connective tissue or supportive tissue, such as bone, cartilage, fat, muscle, blood vessles and soft tissue), affecting about 4,000 people each year in the United States. It is believed to be caused by random, genetic mutations in the cell surface proteins called tyrosine kinase receptors. One medicine in development targets and inhibits multiple kinases involved in the formation of blood vessels (angiogenesis) and appears to reduce tumor growth.
CIAS1-associated periodic syndromes (CAPS) – A genetic auto inflammatory disorder that encompasses several rare diseases associated with mutations in the CIAS1 gene. Inflammatory symptoms of CAPS are due to mutations in the gene called “cryopyrin” (CIAS1). These mutations result in the body’s overproduction of interleukin-1 (IL-1), a protein that stimulates the inflammatory process. In excess, this protein can be harmful and has been linked to a variety of inflammatory diseases. One medicine in development is designed to attach to and neutralize the protein in the blood stream before it can attach to cell-surface receptors and generate signals that can trigger disease. Once the protein is attached to the medicine it cannot bind to cell surface receptors and is flushed from the body.
Epidermolysis bullosa (EB) – A group of inherited skin diseases where painful blisters and open sores develop in response to minor trauma. In severe cases, it can involve the eyes, tongue, and esophagus, and can produce scarring and disabling musculoskeletal deformities. One of every 50,000 live births is affected by some type of EB. A synthetic version of a molecule originally isolated from the thymus gland is a regulating molecule found in mammalian cells and plays an important role in the regeneration, remodeling, and healing of injured or damaged tissues.
Friedreich’s ataxia – A genetic, neurodegenerative disorder that can affect many systems in the body. Onset of symptoms is usually between the ages of five and 15. About 50,000 people in the United States have the disease. It is characterized by muscle weakness and loss of coordination (ataxia) in the arms and legs; vision impairment, hearing loss, and slurred speech; aggressive scoliosis (curvature of the spine); diabetes or carbohydrate intolerance; and an enlarged heart (cardiomyopathy). These symptoms reflect the death of cells in certain parts of the nervous system as a result of cell (mitochondrial) dysfunction. One small molecule in development may be able to prevent cell damage and increase the production of energy within impaired nerve a muscle tissue through preserving mitochondrial function and protecting cells from stress.
Lennox-Gastaut syndrome – A severe form of epilepsy that is characterized by frequent episodes of seizures and, in many cases, abnormal delays in coordination of mental and muscular activity. Seizures usually begin before four years of age. Seizure types, which vary among patients, include tonic (stiffening of the body, upward deviation of the eyes, dilation of the pupils, and altered respiratory patterns), atonic (brief loss of muscle tone and consciousness, causing abrupt falls), atypical absence (staring spells), and myoclonic (sudden muscle jerks). There may be periods of frequent seizures mixed with brief, relatively seizure-free periods. Lennox-Gastaut syndrome can be caused by brain malformations, perinatal asphyxia, severe head injury, central nervous system infection and inherited degenerative or metabolic conditions. In 30-35 percent of cases, no cause can be found. An estimated 1,400 to 4,500 new cases of the syndrome are diagnosed each year in the U.S. One medicine in development is focused on treating the seizures associated with the disease and has shown to reduce seizure frequency.
Leukemia – Chronic lymphocytic leukemia (CLL) affects about 10,020 people each year in the United States. CLL results from an injury to the DNA of a single cell, a lymphocyte, in the bone marrow. The condition is not present at birth and scientists do not yet understand what causes the change in the DNA. A monoclonal antibody in development works by binding a protein to certain tumor cells to enhance the destruction of the tumors and prevent its growth and survival. This process stimulates the body’s immune system to attack and kill the tumor cells. The medicine is also being tested in multiple myeloma, a cancer of the plasma cells. Plasma cells, part of the immune system, are one type of white blood cells. About 16,570 new cases of myeloma are diagnosed each year in the United States.
Sarcoidosis – A multi-system, autoimmune disorder characterized by the abnormal formation of inflammatory masses or modules (granulomas). Virtually any organ can be affected; however, granulomas most often appear in the lungs or the lymph nodes. Symptoms can occasionally appear suddenly but usually appear gradually. When viewing x-rays of the lungs, sarcoidosis can have the appearance of tuberculosis or lymphoma. One medicine in development targets specific proteins in the body’s immune system to help control the development of inflammation. The medicine attaches to and blocks the action of the protein.
February 2007