Patients are at the beginning and end of our journey—that’s why we apply so much focus to science and innovation. We engage in a wide dialogue beyond treatment to understand the needs of individuals, their families, and the community so we can imbed your voice in our development process. We promise to keep researching, enhancing, and advancing new products, whether internally or through partnerships, so people impacted by rare diseases can find the care they need.
Our areas of Focus
Sickle Cell Disease or Other Anemias
ADA - SCID
Epidermolysis Bullosa (EB) (DEB/JEB)
Epidermolysis Bullosa (EB) Gene Therapy (DEB)
Homozygous Familial Hypercholesterolemia (HoFH)
* Brazil, Canada, Germany, and Turkey
Rare Inborn Errors of Metabolism
Alpha-mannosidosis is an ultra-rare genetic disorder characterized by a deficiency of the enzyme alpha mannosidase. This enzyme deficiency results in the body’s cells being unable to properly break down certain groups of complex sugars. The buildup of sugars can affect many parts of the body’s organs and systems, like the central nervous system. Effects of the disease vary significantly, and symptoms can include recurrent chest and ear infections, hearing loss, distinctive facial features, muscle weakness, skeletal and joint abnormalities, or cognitive abnormalities. Alpha-mannosidosis affects approximately 1 in 1,000,000 babies born worldwide.
Fabry disease is a rare genetic disease caused by a deficiency of an enzyme called alpha-galactosidase A and a buildup of certain lipids in cells. It can affect many parts of the body, including the skin, eyes, gastrointestinal system, kidney, heart, brain, and nervous system. Early signs of the disease may start in childhood, and it can be a progressive, lifelong condition. Fabry disease affects men and women. Studies estimate that about 1 in every 40,000-60,000 men worldwide are affected by the condition.
Cystinosis is an ultra-rare, progressive, lifelong multisystem disease caused by mutations in the CTNS gene that lead to the accumulation of cystine in the body's lysosomal cells. There are several types of cystinosis. Infantile nephropathic cystinosis, the most severe form, affects approximately 95% of patients with cystinosis. Neonates with nephropathic cystinosis are clinically asymptomatic at birth; symptoms gradually develop during the first months of life and present with signs of renal Fanconi syndrome. A variety of systemic complications can occur later in life in other organs and continue to progress even after kidney transplantation. Cystinosis affects approximately 1 in 100,000 to 200,000 newborns worldwide.
Thalassemia is an inherited blood disorder that affects the body’s ability to produce hemoglobin and red blood cells. The symptoms of thalassemia can vary depending on the type of inherited mutation. Transfusion-dependent thalassemia is the most severe form, in which there is complete lack of beta protein in the hemoglobin, causing life-threatening anemia that requires regular blood transfusions. Thalassemia can lead to many health problems, such as enlarged spleen, infections, bone deformities in the face and skull, and too much iron in the blood from transfusion. It’s estimated that nearly 1 in 100,000 individuals are diagnosed with symptomatic cases of thalassemia.
Sickle Cell Disease is an inherited blood disease that causes normally rounds red blood cells to have an elongated “sickle” shape. Sickled red blood cells are harmful to the body in two ways: cells stick together and may block circulation in micro-vessels in organs especially in high perfusion organs; they are more fragile and have a shorter lifespan than healthy cells. This hemolysis leads to anemia and narrowing or increased pressure in the blood vessels. As a result, this can cause vaso-occlusive pain crises and other serious problems such as infection, damage to organs, acute chest syndrome, and stroke. Patients often require blood transfusions to manage disease complications, which leads to iron buildup in the body (iron overload). The incidence of Sickle Cell Disease is estimated to be between 300,000-400,000 patients globally each year.
Adenosine deaminase (ADA) deficiency is an inherited disorder that damages the immune system and causes severe combined immunodeficiency (SCID). Absence of the enzyme ADA allows accumulation of toxic metabolites, leaving patients with no immunity against infections, failure to thrive, and metabolic abnormalities. This makes them more susceptible to repeated infections that can become serious or life-threatening. Without newborn screening, diagnosis of SCID usually occurs within the first 6 months of life. Without treatment, infants with this disorder usually do not survive past the age of 2. ADA-SCID is very rare and is estimated to occur in approximately 1 in 200,000 to 1,000,000 newborns.
Leber hereditary optic neuropathy (LHON) is an inherited form of vision loss. It can start with painless clouding or blurring in one or both eyes and then worsen with a loss of sharpness and loss of color vision. LHON affects the central vision needed for detailed tasks such as reading, driving, and recognizing faces. Patients with LHON might become legally blind. It can affect about 1 in 15,000 to 50,000 people worldwide.
Epidermolysis bullosa (EB) is a rare, genetic skin disorder characterized by extremely fragile skin that blisters and tears from minor friction or trauma. EB is intensely painful; recurrent blistering and chronic wounds can result in intolerable pain with limited mobility. The impacts of EB can go beyond the skin and impact the internal organs including the mouth and digestive system.
Acromegaly is a rare disorder affecting about 25,000 people in the U.S. It is typically caused by a benign tumor, also known as a pituitary adenoma, located next to the pituitary gland that is at the base of the brain. The tumor overproduces growth hormone, which can result in fatigue, headaches, and enlarged hands and feet. The symptoms makes living your day-to-day life difficult. If left untreated, this can lead to serious and sometimes life-threatening health problems including congestive heart failure.
HoFH is a rare, inherited, potentially life-threatening disorder that impairs the body’s ability to remove LDL “bad” cholesterol from the blood. It typically results in extremely high blood LDL cholesterol levels leading to aggressive and premature blocking of arterial blood vessels. HoFH patients are at a high risk of experiencing life-threatening cardiovascular events and have a substantially reduced life expectancy.
Lipodystrophy is a condition caused by loss of fat tissue from the body either due to a mutation in certain genes (congenital or familial lipodystrophy) or associated with other medical conditions (acquired lipodystrophy). Fat cells produce a hormone, leptin, which controls appetite and the metabolism of fats and carbohydrates in the body. The loss of fat cells results in leptin deficiency which in turn results in metabolic abnormalities including severe insulin resistance, diabetes, hypertriglyceridemia and fatty liver disease.