Cystic Fibrosis
Duchenne Muscular Dystrophy
Hemophilia
CF is among the most common life-threatening genetic disorders worldwide. According to the Cystic Fibrosis
Foundation, CF affects approximately 30,000 adults and children in the United States and, according to the European
Cystic Fibrosis Foundation, it affects a similar number of patients in Europe. CF occurs in approximately one of
every 3,500 live births, with approximately 1,000 new cases diagnosed each year in the United States. There is a
commercially available genetic test to determine if a patient's CF is caused by a nonsense mutation and it is
estimated that nonsense mutations are the cause of CF in approximately 10% of patients in the United States. There
is currently no available therapy to correct defective CFTR production and function. Instead, available treatments
for CF are designed to alleviate the symptoms of the disease. These treatments include chest physical therapy to
clear the thick mucus from the lungs, antibiotics to treat lung infections and a mucus-thinning drug designed to
reduce the number of lung infections and improve lung function. In addition, the majority of cystic fibrosis
patients take pancreatic enzyme supplements to assist with food absorption in digestion. There is a significant
unmet medical need for a treatment for the underlying cause of CF. More information regarding CF is available
through the Cystic Fibrosis Foundation.
Click here for information on genetic testing for cystic fibrosis.
Duchenne muscular dystrophy (DMD) is a progressive, debilitating, and life-threatening genetic disorder. DMD is the most common and most severe form of muscular dystrophy in children.
Patients with DMD do not produce adequate levels of dystrophin, an essential protein that is critical to the structural stability of skeletal and heart muscles. Without dystrophin, normal use causes excessive damage to muscle fibers. Damaged muscle fibers are replaced with connective tissue and fat, resulting in the loss of muscle function.
As DMD progresses, patients may lose the ability to walk as early as age 10 and experience life-threatening heart and lung complications in their late teens and twenties. Early diagnosis and treatment may prevent or decrease muscle damage.
Duchenne and Becker muscular dystrophy represent a single disease continuum with the same underlying cause, the lack of dystrophin protein. Patients with Becker muscular dystrophy (BMD) typically experience initial symptoms later and have a slower disease progression than those with DMD.
Given the relentlessly progressive course of the disease and its impact on multiple organ systems, patients could benefit from therapeutic interventions at all stages of the disease. No drugs have yet been approved by the U.S. Food and Drug Administration (FDA) for the treatment of DMD/BMD. The current standard of care focuses on the alleviation of symptoms rather than the correction of the underlying cause of the disease.
There is a significant unmet medical need for a treatment for the underlying cause of DMD. More information regarding DMD is available through the Muscular Dystrophy Association, and the Parent Project Muscular Dystrophy.
Click here for information on genetic testing for DBMD.
Hemophilia is an inherited genetic disorder that results in abnormal bleeding with longer periods of bleeding than normal. It occurs when one of the proteins needed to form blood clots is absent or reduced. There are two types of hemophilia, hemophilia A (HA) and hemophilia B (HB). HA results from Factor VIII deficiency, and HB results from Factor IX deficiency. According to the National Hemophilia Foundation, HA is the most common form of hemophilia and affects approximately 18,000 males in the US, while HB afflicts about 3,300 males in the US and the worldwide incidence of hemophilia is estimated at more than 400,000 people. In about one-third of hemophilia cases, there is no family history of the disorder and instead, the condition is caused by a spontaneous gene mutation. Approximately 10 to 30 percent of patients with hemophilia have the disease to a nonsense mutation. More information regarding hemophilia is available through the National Hemophilia Foundation (www.hemophilia.org).
Click here for information on genetic testing for hemophilia.
|