Enzyme replacement therapy (ERT) is a treatment where replacement enzymes are utilized for patients who suffer from rare and complex conditions resulting from enzyme deficiencies or malfunction. Replacement enzymes for ERT are derived from human, animal, and plant cells that are genetically modified and processed before being given to the patient. The body can successfully perform the functions inhibited by the deficiency by receiving these enzyme replacements. The most common conditions treated by ERT are lysosomal storage diseases. These rare diseases develop when enzymes are absent or malfunctioning inside the lysosomes. Lysosomes break down proteins and other macromolecules in the body. Because of these deficiencies, severe healthcare conditions develop, often with significant consequences on a person’s daily life. This is where enzyme replacement therapy comes in. Common specialty conditions treated with enzyme replacement therapy include:
Gaucher Disease:
Gaucher disease is a rare, lipid metabolism disorder caused by a deficiency of enzyme glucocerebrosidase. This results in a build-up of harmful fats within the body. The most common symptoms include abdominal pain, fatigue, nausea, nose bleeds, and muscle stiffness. Gaucher disease, Type 1, is the most common form of the condition. Learn more about Gaucher disease.
Fabry Disease:
Fabry disease belongs to a group of diseases known as lysosomal storage disorders. It is a rare inherited disorder of lipid (fat) metabolism which results from the deficient activity of the enzyme alpha-galactosidase A (a-Gal A). This leads to a buildup of a particular type of fat in the body’s cells, called globotriaosylceramide or GL-3, that affects many parts of the body. Signs and symptoms may include episodes of pain, particularly in the hands and feet, clusters of small, dark red spots on the skin, a decreased ability to sweat, cloudiness of the front part of the eye, and hearing loss. Complications such as progressive kidney damage, heart attack, and stroke can be life-threatening. Learn more about Fabry disease.
Pompe Disease:
Pompe disease is an inherited disorder caused by the buildup of glycogen, a complex sugar, in the body’s cells, which impairs the ability of affected organs, tissues, and muscles to function normally. Several different clinical types of Pompe disease have been identified, including classic form, non-classic form, and late-onset. Learn more about Pompe disease.
Mucopolysaccharidosis:
Mucopolysaccharidosis (MPS) is an inherited metabolic disease in which the body either does not produce enough enzymes required to break down sugars into simpler molecules or produces enzymes that do not work correctly. Over time, molecules called glycosaminoglycans (sugar carbohydrates in each of our cells that help build bone, cartilage, tendons, corneas, skin, and connective tissue) collect in the cells, blood, and connective tissues, resulting in permanent, progressive cellular damage. The cellular damage affects the appearance, physical abilities, organs, system functioning, and cognitive development. Several different clinical types of mucopolysaccharidosis have been identified. Learn more about Mucopolysaccharidosis.
These prescriptions are available through specialty pharmacies that provide dedicated patient care and support. The team at Orsini Specialty Pharmacy is here to listen, provide counseling on treatment, help with side-effect management, and assist with sourcing third-party financial assistance. As part of the patient’s treatment, Orsini provides the following:
Dedicated Care Team: Patients will have access to a primary pharmacy contact, clinical education, and scheduled refill calls. In addition, we provide patients and prescribers with 24×7 access to a pharmacist.
In-Home Patient and Family-Centric Care: Orsini Specialty Pharmacy utilizes a nationwide nursing network, enabling patients and their families to receive care at home. With the ability to individually match our nurses with the skill and care level required by each patient, we create a unique tailored high-touch opportunity to optimize their care plans and clinical outcomes.
Shipping & Coordination of Care: Patients receive free priority overnight delivery of medications and necessary medical supplies. Also, Orsini manages care coordination between prescribers, sites of care, nurses, and patients.
Financial Assistance Coordination: Orsini identifies and assists patients looking to enroll in manufacturer co-pay and foundation support programs.
If you are a prescriber, learn more about how we partner with healthcare providers. In addition, you can always connect with your Orsini rep to schedule a call and answer any questions. If you are a patient, click here to start your patient enrollment form.