What is the treatment for Fabry disease?
Enzyme replacement therapy (ERT) is the only specific treatment for Fabry disease. The beneficial effect of ERT on different organs/systems has been extensively evaluated. Quality of life of patients receiving ERT is improved.
What is enzyme replacement therapy for Fabry disease?
Enzyme replacement therapy with Fabrazyme restores levels of alpha-galactosidase A. This allows your body to break down lipids. As a result, it can provide relief from Fabry disease symptoms, as well as helps prevent complications.
Is Replagal FDA approved?
Although in use in many countries, including Canada, Russia, the United Kingdom, Mexico, Israel, and many members of the European Union, Replagal has not been approved by the U.S. Food and Drug Administration (FDA).
Is there a cure coming soon for Fabry disease?
There is no cure for Fabry disease. Recombinant alpha-galactosidase A (alpha-Gal A), the enzyme that is deficient in patients with Fabry disease, and migalastat hydrochloride, an oral pharmacologic chaperone that facilitates trafficking of alpha-Gal A to lysosomes, are therapeutic options for eligible individuals.
What does Fabry disease do to a person?
When you have Fabry disease, a certain type of fatty substance builds up in the cells of your body. It narrows your blood vessels, which can hurt your skin, kidneys, heart, brain, and nervous system.
What does Fabry disease rash look like?
This is known as classic manifestation of Fabry disease. These symptoms include: Skin rash, known as angiokeratoma: A dark, red, spotted skin rash appears. The rash is seen most densely between the navel (belly button) and the knees.
How is enzyme replacement therapy done?
Enzyme Replacement Therapy: The Basics The most common method of ERT is through IV infusions, in which the replacement enzyme is administered directly into the bloodstream through a controlled drip of fluids.
What is Replagal?
Replagal is medicine that contains the active substance agalsidase alfa. It is available as a concentrate to be made into solution for infusion (drip) into a vein. What is Replagal used for? Replagal is used to treat patients who have Fabry disease, a rare inherited disorder.
Who makes Replagal?
With the FDA’s blessing, Shire had made supplies of Replagal available to Fabry patients in the US – free of charge via treatment access programmes – to help alleviate the shortages. Around 140 patients or 20 per cent of the US Fabry population received the drug.
How does Fabry disease affect the brain?
As a result, many neurological deficits may occur in a patient with Fabry disease. These include hemiparesis, vertigo/dizziness, diplopia, dysarthria, nystagmus, nausea/vomiting, headaches, hemiataxia and dysmetria, cerebellar gait ataxia and, very rarely, cerebral haemorrhage [4].
What are the different dosing regimens of Replagal for Fabry disease?
The safety and effectiveness of several dosing regimens of Replagal on heart function in adults with Fabry disease were evaluated in a Phase 3 clinical trial ( NCT00864851 ). Three different dosing regimens were tested: 0.2 mg/kg once weekly, 0.2 mg/kg every other week, and a higher dose of 0.4 mg/kg once a week.
How does Replagal work for Fabry disease?
How Replagal works. Fabry disease is a rare genetic disorder where affected individuals lack the enzyme alpha-galactosidase A and cannot break down a fat molecule called globotriaosylceramide (Gb3 or GL-3). When this enzyme is not present or is malfunctioning, this fat molecule damages the body by building up inside cells.
What are the treatments for Fabry disease?
Previous treatments for Fabry disease only involved symptomatic relief of patients. However, because of advancement in treatments, specific treatments are available to correct the lack of alpha-galactosidase A enzyme. Treatments include: This treatment involves the administration of exogenous enzymes that help metabolize lipids.
What is Replagal used to treat?
Replagal is an enzyme replacement therapy (ERT) for people with Fabry disease, providing them with the functional enzyme they are missing in a form that their body can use. It is being developed by the biotechnology company Shire. Although in use in many countries, including Canada, Russia, the United Kingdom, Mexico, Israel,…