SPECIALTY PHARMACEUTICALS PATHOLOGIES
Urea Cycle Disorders
Urea Cycle Disorders are the consequence of inherited defects in one of the six enzymes or two transporters involved in urea production. In these pathologies, ammonium elevation is the main cause of pathogenicity. Also evident in these defects is a decrease in arginine due to an enzymatic defect in one of these enzymes, which makes it an essential amino acid.
Products: Ravicti, Ammonaps, Buphenyl and Loargys. Nutritional line
Tyrosinemia Type 1
Tyrosinemia type 1a is a rare hereditary disease caused by a deficiency in the tyrosine metabolic pathway, due to the failure of the enzyme fumarylacetoacetate hydrolase. This can lead to severe liver and kidney damage, due to the accumulation of toxic metabolites mainly succinylacetone, fumarylacetoacetate and their derivatives.
Products: Orfadin®. Nutritional line
Alcaptonuria
Alcaptonuria is an autosomal recessive disease caused by an enzymatic defect (homogentisate dioxygenase deficiency) in the tyrosine and phenylalanine metabolism pathway, which leads to the toxic accumulation of homogentisic acid, resulting in ochronosis. Excess homogentisic acid causes cartilage damage, which leads to osteoarthritis, fractures, kidney stones, valvular heart disease, etc.
Products: Orfadin®. Nutritional line
Lipodystrophy
It is a clinical entity characterised by the abnormal distribution of adipose tissue, which results in lipoatrophy. It is generally, but not always, associated with insulin resistance and other metabolic disorders (hypertriglyceridaemia). It is a disease of genetic origin, but can also be acquired in response to a pathogenic stimulus. In Generalised Lipodystrophy, adipose tissue is almost entirely absent, whereas in Partial Lipodystrophy, lipoatrophy is found only in anatomically specific areas.
Product: Myalept®
Homozygous familial hypercholesterolaemia
Homozygous familial hypercholesterolaemia (HoHF) is an inherited genetic condition characterised by extremely high levels of LDL cholesterol in the blood from birth. It is the most severe form of familial hypercholesterolaemia, a group of disorders that affect cholesterol metabolism. HFHo is a homozygous genetic disorder, which means that it runs in the family, with both parents having high LDL cholesterol (heterozygous familial hypercholesterolaemia). This condition significantly increases the risk of developing cardiovascular disease, such as myocardial infarction, and requires timely and effective medical treatment to reduce cardiovascular morbidity and mortality.
Product: Juxtapid®
Epidermolysis Bullosa
Epidermolysis bullosa (EB) is a heterogeneous group of rare and difficult-to-treat inherited multisystemic diseases. Patients experience mechanical fragility of epithelial surfaces, affecting the integrity of the skin and/or mucous membranes. The main feature of the disease is the formation of extensive and recurrent blisters that are difficult to heal. Chronic wounds increase the risk of squamous cell carcinoma, a leading cause of premature death. EB is not contagious and is not transmitted by contact.
Product pathology: Filsuvez®
Acromegaly
Is a condition that occurs when the body produces an increased amount of growth hormone (GH). This hormone is mainly produced by the pituitary gland and regulates the body’s physical growth. In adults, excess growth hormone increases the size of bones, cartilage, organs and other tissues. Common changes in physical appearance include enlargement or thickening of the nose, ears, hands and feet.
Product: Mycapssa®
MPNs
Interferon alfa is approved for the treatment of hairy cell B-cell malignant leukaemia, hepatitis B and C infections, malignant melanoma, HIV-related Kaposi’s sarcoma, follicular lymphoma and condyloma acuminatum. It also has numerous off-label uses in haematological disorders and solid tumours such as MPNs.
Product: Pegasys®
Chronic granulomatous disease / Mendelian Susceptibility to Mycobacterial Disease
Chronic granulomatous disease (CGD) is a rare disease (primary immunodeficiency) characterised by recurrent, life-threatening bacterial and fungal infections affecting various organs, including the skin, respiratory tract, lymph nodes, liver, brain and bones. Commonly associated pathogens include Staphylococcus aureus, Aspergillus species, Klebsiella species, Burkholderia cepacia, Serratia marcescens and Salmonella. CGD results from mutations in any of the five components of NADPH oxidase in phagocytic leukocytes. NADPH oxidase plays a crucial role in the generation of superoxide, essential for intracellular destruction of pathogens by phagocytes. Failure of this system leads to increased susceptibility to infection by microorganisms typically controlled in individuals with a well-functioning enzyme system for the destruction of microorganisms. Mendelian susceptibility to mycobacterial disease (MSMD) is a group of inherited immune disorders that increase the risk of infection with mycobacteria, particularly non-tuberculous species and Mycobacterium tuberculosis. These disorders result from mutations in key immune system genes that are essential for recognising and fighting mycobacterial pathogens.
Product: Imukin®/Actimmune®
Bile Acid Synthesis Disorders
Bile acid synthesis disorders (BASD) are a group of rare metabolic disorders characterised by a lack of bile acid synthesis. Bile acids are a chemical compound found in the liver that play multiple roles in the body such as promoting the transit and excretion of bile and assisting in the intestinal absorption of fat and fat-soluble vitamins. Bile acids are made up of cholesterol, thus their synthesis is one of the main pathways for cholesterol elimination. The inability to produce bile acids normally results in the abnormal accumulation of bile acids and other substances that are normally degraded within the body. The result of this abnormal accumulation causes damage to certain organ systems.
Product: Cholic acid
Adenosine Deaminase Deficiency
Adenosine deaminase deficiency (ADA) is a rare inherited disorder of purine metabolism characterised by severe combined immunodeficiency. Elapegademase-lvlr is a novel pegylated recombinant bovine ADA used in enzyme replacement therapy (ERT) for ADA deficiency.
Product: Revcovi® (elapegademase-lvlr)
Arginase 1 deficiency
Arginase 1 deficiency (ARG1-D) is a rare, progressive metabolic disorder characterised by severe manifestations caused by elevated plasma arginine levels. It typically presents in early childhood with spasticity (predominantly affecting the lower limbs), motor impairment, seizures, developmental delay and intellectual disability. It is the least common of the urea cycle disorders.
Product: Loargys® (pegzilarginase)