Media resources and videos of Fabry disease

  • The nanoformulation developed by the Smart4Fabry EU project has been designated as Orphan Drug

    We are proud to announce that the new nanoformulation developed by Smart4Fabry for the treatment of Fabry disease has achieved the ODD (Orphan Drug Designation) by the European Commission. The new nanomedicine is more effective and has a better biodistribution than the current treatments, based on enzyme replacement. The new nanomedicine is based on a nanovesicle that protects the enzyme and achieves a better cell internalisation, thus reducing the doses needed, the total cost and improving the quality of patients.  

  • Meet the Smart4Fabry project

    Rare diseases can severely affect quality of life and life expectancy. Lysosomal storage disorders, LSDs, such as Fabry, Gaucher, Hunter, and Sanfilippo diseases are a group of rare diseases that currently lack a totally effective treatment. These kind of diseases individually occur with incidences of less than 1:100,000, but as a group the incidence is between 1:5,000 to 1:10,000, representing a serious global health problem. Lysosomal storage disorders result as a consequence of lysosomal dysfunction, usually due to a deficiency of a single enzyme required for the metabolism of macromolecules such as lipids, glycoproteins and mucopolysaccharides. People who suffer from Fabry disease, have a deficiency of GLA enzyme activity results in the cellular accumulation of neutral glycosphingolipids, that leads to widespread vasculopathy with particular detriment to the kidneys, heart and central nervous system. The European-funded project Smart-4-Fabry has been conceived to obtain a new nanoformulation of GLA using nanocapsules, that will improve the toleration and efficacy compared to the current enzyme replacement treatment with non-formulated GLA.  

  • Impact of Fabry Disease on the Heart & Kidneys

    This video explains how Fabry disease affects the heart and kidneys. Heart disease and kidney failure are both major causes of premature death in patients with Fabry disease. Accumulation of globotriaosylceramide (Gb3) in heart tissues leads to structural and functional changes in the heart while Gb3 storage in the kidney leads to progressive worsening of kidney function and end-stage kidney disease. This video demonstrates how heart and kidney disease affect each other and why an understanding of this complex interplay is central to improving patient outcomes. Fabry Disease

  • What is Fabry Disease?

    Fabry disease is an inherited disorder that results from the buildup of a particular type of fat, called globotriaosylceramide, in the body's cells. Beginning in childhood, this buildup causes signs and symptoms that affect many parts of the body. Characteristic features of Fabry disease include episodes of pain, particularly in the hands and feet (acroparesthesias); clusters of small, dark red spots on the skin called angiokeratomas; a decreased ability to sweat (hypohidrosis); cloudiness of the front part of the eye (corneal opacity); problems with the gastrointestinal system; ringing in the ears (tinnitus); and hearing loss. Fabry disease also involves potentially life-threatening complications such as progressive kidney damage, heart attack, and stroke. Some affected individuals have milder forms of the disorder that appear later in life and affect only the heart or kidneys.