Reducing time to diagnosis for people living with rare diseases: a conversation on U.S. policy opportunities
As part of its commitment to reducing burdens facing the rare disease community, Takeda recently announced three priority policy reforms and solutions designed to address significant barriers to care for patients managing rare diseases and genetic conditions as part of a new report.
Takeda is a leader in rare hematology with the longest heritage and market-leading hemophilia portfolio, backed by established safety and efficacy profiles with decades of real-world experience. We have more than 70 years driving innovation for patients and a broad portfolio of potential treatment options across hemophilia indications. Our experience as leaders in hematology means we are well prepared to meet today’s needs as we pursue future developments in the treatment of bleeding disorders. Together with the hematology community, we are raising expectations for the future, including earlier diagnosis, earlier and full protection against bleeds, and more personalized patient care.
Hemophilia is an inherited bleeding disorder that mostly affects males. People with hemophilia lack or have low levels of certain proteins called clotting factors, so their blood doesn’t clot properly. Over 400,000 people worldwide are estimated to be living with hemophilia.
Von Willebrand Disease (VWD), one of the most common hereditary bleeding disorders, is caused by deficiency or dysfunction of the von Willebrand factor (VWF) where a solid clot can’t form or takes longer to form, resulting in prolonged bleeding. VWD occurs in approximately 1% of the world’s population, including as many as 3.2 million people in the U.S. alone. Nine out of 10 people with VWD have not been diagnosed.
New Solutions to Help Achieve Personalized Care for Patients Living with Rare Diseases
Takeda, in collaboration with PwC, published the whitepaper “Mission: patient centricity – How technology can help achieve personalized care for rare disease patients” to showcase commitment to continuously developing its digital capabilities as one of Takeda’s top R&D priorities. Learn More
Within Rare Immunology we focus on driving continuous innovation and personalized care through our portfolio of plasma products and innovative targeted treatments, devices, diagnostics and other technological services, for the benefit of patients with rare immunological disorders. Our core therapeutic areas include Hereditary Angioedema, immuno-deficiencies, rare autoimmune disorders, post-transplant complications and rare specialty care.
HAE is a rare genetic disorder that results in recurring attacks of oedema – swelling – in various parts of the body, including the abdomen, face, feed, genitals, hands and throat. The swelling can be debilitating and painful.1,2,3 Attacks that obstruct the airways can cause asphyxiation and are potentially life-threatening.2,3 HAE affects an estimated 1 in 10,000 to 1 in 50,000 people worldwide. It is often under-recognized, under-diagnosed and under-treated.1,4
Primary immunodeficiency (PID) is a group of more than 350 rare diseases wherein part of the immune system is missing or not functioning properly.5,6 People with PI may be more susceptible to illness, take longer to recover and have recurring infections5, such as sinusitis, bronchitis, pneumonia, or gastrointestinal infections6. Physicians sometimes treat the infections while missing the underlying cause, leaving patients vulnerable to vital organ damage, physical disability, or even increased mortality risk.7.8
Secondary immunodeficiencies are a consequence of conditions such as chronic lymphocytic leukemia and multiple myeloma. They can lead to recurring infections that may result in end-organ damage and mortality.
Neuromuscular diseases where a dysregulation of the immune system results in attack of the host tissue, often with complex disease mechanisms. Multifocal motor neuropathy (MMN) is a chronic neuropathy that causes progressive limb weakness with no objective sensory loss. Guillain Barré Syndrome (GBS) is a life-threatening neuropathy characterized by progressive limb weakness and numbness in the respiratory, facial and swallowing muscles. Chronic inflammatory demyelinating polyneuropathy (CIDP) is a peripheral nerve disorder characterized by progressive limb weakness and impaired sensory function in extremities.
Hypoalbuminemia occurs when the level of albumin in the blood is abnormally low. It is a common problem among people with acute and chronic medical conditions including burns and adult respiratory distress syndrome. Hypovolemia results from decreased volume of blood plasma and can result in hypovolemic shock, a life threatening condition in which the organs aren’t getting enough blood or oxygen. Symptoms include weakness, fatigue, fainting and dizziness.
Severe Congenital Protein C Deficiency is a rare, autosomal recessive disorder that mainly presents in newborns. One of the main symptoms is purpura fulminans, an acute, often fatal, thrombotic disorder which manifests as blood spots, bruising and discoloration of the skin resulting from coagulation in small blood vessels within the skin and rapidly leads to skin necrosis and disseminated intravascular coagulation. The age of onset of the first symptoms can range from a few hours to 2 weeks.
Prothrombin deficiency is a bleeding disorder, associated with a lack of vitamin K, that slows the blood clotting process. People with this condition often experience prolonged bleeding following an injury or surgery.
Alpha-1 Antitrypsin Deficiency (AAT or Alpha-1 deficiency) is a hereditary condition that results in reduced levels of alpha-1 antitrypsin (AAT) protein in the blood and lungs. This protein, which is made mostly in the liver, helps protect lung tissue from chemicals released by white blood cells.9 People with low levels of AAT protein are at higher risk for developing lung diseases such as emphysema.
Takeda has a strong legacy in developing treatments for lysosomal storage disorders (LSDs), with a portfolio that includes commercial products, late-stage investigational therapies, and pipeline candidates. Because rare genetic and metabolic diseases can have symptoms that vary widely and progress differently from person to person, we empower global education and awareness, and partner with medical and research organizations. We are committed to helping reduce the amount of time between the onset of symptoms and diagnosis and to accelerating the development of innovative new treatments.
Hunter syndrome, or mucopolysaccharidosis II (MPS II), is a serious genetic disorder that primarily affects males. It interferes with the body's ability to break down and recycle specific mucopolysaccharides, also known as glycosaminoglycans or GAGs. Hunter syndrome is one of several related lysosomal storage diseases.
Fabry disease is a lysosomal storage disorder (LSD) that interferes with the body's ability to break down a specific fatty substance (globotriaosylceramide or Gb3). It affects an estimated 8,000 to 10,000 people worldwide, including both males and females.
Gaucher disease is a rare, inherited metabolic condition, and the most common of a family of rare diseases known as lysosomal storage disorders (LSDs). It affects approximately 1 in 100,000 people in the general population, and 1 in 855 people in the Ashkenazi Jewish community.10 Patients with type 1 Gaucher disease may experience varying symptoms and degrees of disease severity, making it difficult to diagnose.
Hypoparathyroidism is a rare endocrine disease that occurs when the parathyroid glands are damaged either due to surgery, an autoimmune disease, or a genetic disorder. As a result, the glands are not able to produce enough parathyroid hormone (PTH), which is important for controlling the levels of calcium and vitamin D in the blood. Not having enough PTH can interfere with important functions of certain organs in the body, including the kidneys.
Cytomegalovirus, or CMV, is a widespread virus that typically stays inactive, “sleeping” in the body for life.11 CMV may awaken as a great health risk, especially in people who are sick or who have a weakened immune system.11,12 The use of immunosuppressive medications after solid organ transplants and hematopoietic stem cell transplants is essential to prevent the body’s immune system from rejecting the transplant.11,13 However, these medications can make transplant recipients more vulnerable to viruses and infections, such as CMV.11,13 CMV can lead to serious consequences including loss of the transplanted organ, failure of the graft and, in only extreme cases, can be fatal.14,15