We continue to provide unique solutions with our products, which are used primarily in Neurology, Endocrinology, and Nephrology, as well as Oncology, Hematology, and Pediatrics, specifically in the treatment of rare diseases and the management of related functional disorders.
Multiple Sclerosis (MS) Disease
Multiple Sclerosis (MS) is an autoimmune central nervous system disease characterised by inflammation, demyelination, and axonal damage. The disease primarily affects the myelin sheaths, oligodendrocytes, and, to a lesser extent, axons and the nerve cells themselves.
Parkinson’s Disease
Parkinson’s disease is a neurological disorder caused by the loss of neurons in the brain, leading to a deficiency of a substance called dopamine. The disease typically begins after the age of 60. Common symptoms include tremors in the hands, arms, legs, and jaw, stiffness in the trunk and limbs, and slow movements.
Stem Cell Transplantation
Stem cells are the primary cells responsible for the formation, proliferation, and repair of all tissues in the human body. For example, the liver requires its stem cells, the nervous tissue its own, and blood requires its specific stem cells. Regarding blood production, stem cells (hematopoietic stem cells) are most abundantly found in the bone marrow.
Wilson’s Disease
Wilson’s disease is an inherited disorder caused by a disruption in copper metabolism. It can lead to the accumulation of copper in various organs, primarily affecting the liver and brain. Wilson’s disease can present symptoms at any age but is most commonly observed between the ages of 5 and 35.
Fabry Disease
Fabry disease is a genetic lysosomal storage disorder first described in 1898 by William Anderson and Johannes Fabry. It is caused by a harmful mutation in the GLA gene, which encodes the alpha-galactosidase A (αGAL A) enzyme on the X chromosome. This mutation leads to the progressive accumulation of the enzyme’s substrate.
Hereditary Transthyretin Amyloidosis (hATTR)
The transthyretin protein, produced primarily in the liver and the choroid plexus, small intestine, and retinal pigment epithelium, is responsible for transporting vitamin A and thyroxine (T4). Mutations in the TTR gene lead to the loss of the protein’s stable structure, resulting in its conversion into insoluble amyloid fibrils.
Metachromatic Leukodystrophy (MLD)
Metachromatic Leukodystrophy (MLD) is an autosomal recessive lysosomal storage disease characterised by a deficiency of the enzyme arylsulfatase A (ARSA). The ARSA gene, essential for the synthesis of this enzyme, is located on chromosome 22q13.33. The deficiency often results from missense mutations. This enzyme deficiency leads to the accumulation of sulfatides in the peripheral and central nervous systems, causing widespread demyelination in the nervous system.
Neuroblastoma
Neuroblastoma is a solid tumor cancer that originates in the nerve cells outside the brain, most commonly affecting infants and children under 5 years old. It can develop before birth and may sometimes be detected during prenatal ultrasound. Although less common, neuroblastoma can also occur in older children, adolescents, and young adults.
Progressive Familial Intrahepatic Cholestasis (PFIC)
Progressive Familial Intrahepatic Cholestasis (PFIC) is a rare form of cholestasis that often manifests in early infancy and childhood, progressing to cirrhosis within the first decade of life. It is inherited autosomal recessive and results from gene mutation coding for hepatobiliary transport proteins.
Porphyria
Porphyria is a group of liver disorders characterised by the accumulation of porphyrins in the body, which can adversely affect the skin or nervous system. Types of porphyria that rapidly onset and have short durations are referred to as acute porphyrias.
Primary Hyperoxaluria Type 1 (PH1)
Primary Hyperoxaluria is a rare disorder caused by a genetic defect in a peroxisomal enzyme in the liver. It is characterised by the formation of kidney stones and calcium deposits resulting from the accumulation of calcium oxalate in the urine. This is a hereditary metabolic condition.
Central Nervous System (CNS) Tumors
A CNS tumour begins when healthy brain or spinal cord cells transform and proliferate uncontrollably, forming a mass. CNS tumours can be either malignant or benign, and both types can potentially be dangerous. Malignant tumours are cancerous and can grow rapidly and spread to other body parts. Benign tumours are typically slower-growing and do not spread to other body parts.
Renal Cell Carcinoma (RCC)
Renal cell carcinoma is the most common type of kidney cancer, accounting for approximately 85% of adult kidney cancers. This cancer develops in the proximal renal tubules, part of the kidney’s filtration system. Renal cell carcinoma represents 2-3% of all adult cancers. As of 2020, there were about 431,000 cases of kidney cancer worldwide, with renal cell carcinoma comprising approximately 85% of these cases.
Hepatocellular Carcinoma (HCC)
Hepatocellular carcinoma is a type of cancer that originates in the liver, distinct from “secondary” liver cancers that spread from other organs. If detected early, it may be treatable with surgery or a liver transplant. It may not be curable in more advanced cases, but treatment and support can help improve survival and quality of life.
