Treatment & Management
How is Fabry disease treated?
Although there is currently no cure for Fabry disease, enzyme replacement therapy (ERT) can help manage some of its symptoms. ERT involves giving people the glucocerebrosidase enzyme that their bodies are missing or deficient in by intravenous (IV) infusion. This medication allows the lysosomes to break down the substance that has built up in the cells. Therefore, the cells and body organs can begin to work properly, and people can begin to experience some relief of their symptoms.
People with Fabry may suffer from depression, so people often are followed by mental health teams or therapists. Fabry disease can affect different organs of the body and those affected may have high blood pressure or irregular heartbeats. They may need to take blood pressure or heart medications to lower their blood pressure and control their heart rate. If people who are affected with Fabry experience pain, it is important for them to consult with their medical practitioner if medication is required. Non- pharmacological methods of pain management can also help with pain management and some examples include distraction and imagery (such as watching TV or reading books), applying cold compresses to the area of pain, massage therapy, music therapy, deep breathing, laughter and aromatherapy.
How is Fabry disease managed?
Regular Check-Up with Doctor(s)
Fabry disease is a lifelong condition, therefore managing the disease and meeting treatment goals will involve regular monitoring tests. These tests help track changes in the body so new symptoms can be caught early and treated before they cause permanent damage. Tests for Fabry disease can involve checking the heart, kidneys (through blood and urine tests) and possibly MRIs (brain scans). Talk to the doctor about the frequency of tests. The effective management of Fabry disease requires a multidisciplinary approach. In Australia there is a Fabry Clinic for Adults and a Fabry Clinic for Children in most States/ Territories. See Fabry Clinics for details of locations.
What is Enzyme Replacement Therapy (ERT)?
Enzyme Replacement Therapy (ERT) is a medical treatment replacing an enzyme in patients in whom that particular enzyme is deficient or absent. In the case of Fabry disease, the enzyme that is deficient is called α‐galactosidase A (α‐Gal A) enzyme. The replacement enzyme is referred to as a “recombinant” enzyme, produced through gene engineering. Usually this is done by giving the patient an intravenous (IV) infusion containing the enzyme.
Enzyme replacement therapy does not affect the underlying genetic defect, but increases the concentration of enzyme in which the patient is deficient. ERT implies life-long treatments with regular and frequent infusions of enzyme (for example once or twice a month throughout the patient’s life). In the case of Fabry patients, it is fortnightly. ERT is a very expensive form of treatment, mainly due to the complexity of the manufacturing process.
There are two drugs currently subsidised through the Australian Government's Life Saving Drugs Program (LSDP) for the treatment of Fabry disease. The generic names for these drugs are agalsidase alfa and agalsidase beta.The trade names for these drugs are Replagal® and Fabrazyme®. The Therapeutic Goods Administration (TGA) registration and
Product Information for agalsidase alfa (Replagal®) and agalsidase beta (Fabrazyme®) can be found on the TGA's (Therapeutic Goods Administration) website
Both drugs were first listed as safe and effective therapies for the treatment of Fabry Disease in patients in Australia in 2004 following clinical trials and studies performed both in Australia and across the world. The Australian Government's Department of Health fund both treatments through a Special Access Program called the Life Saving Drugs Program (LSDP). The LSDP has been funding ERT for treating Fabry Diease since 2004. ERT may be offered to patients with documented Fabry disease of any age and either sex providing they meet at least one of the disease specific criteria. The most recent clinical guidelines and criteria for the use of ERT Agalsidase alfa (Replagal®) and Agalsidase beta (Fabrazyme®) for the treatment of Fabry disease in Australia is listed on the Department of Health's website
Other Therapeutic Avenues for Fabry disease
There are several approaches being investigated for the treatment of Fabry disease. Whilst the cause of the disease is fairly well understood, treating the disease presents researchers and clinicians with a number of challenges. These other therapeutic options for Fabry disease are currently being studied at clinical sites across the world including Australia.
Migalastat is an oral monotherpy (tablet) for Fabry disease patients with genetic mutations that are amenable to this chaperone therapy. Many individuals with Fabry disease make some alpha-Gal A enzyme that is capable of degrading substrate. However, because of a genetic mutation, the alpha-Gal A is not effectively delivered to lysosomes to reduce GL-3. As a monotherapy, migalastat is an investigational oral, small molecule drug designed to bind to and stabilize the endogenous alpha-Gal A that is made in the patient’s own cells, with the intention of enabling its trafficking to lysosomes (designed to act as a “pharmacological chaperone”). Once delivered to lysosomes, the alpha-Gal A enzyme can degrade the accumulated GL-3. This approach is designed for patients with amenable mutations that could be capable of responding to oral migalastat as a monotherapy treatment on the basis of their genotype. Migalastat Monotherapy is an approved safe and effective therapy by the EMA (European Medicines Agency). It was listed 26 May 2016 PRESS HERE Further information on current clinical studies using this therapy visit Current Clinical Studies Amicus
Substrate Reduction Therapy
The objective of Substrate Reduction Therapy is to curb the synthesis or production of substrate which is not degraded and therefore accumulates. Using this method, the synthesis of a particular molecule is decreased with the aim of creating a better balance between synthesis (controlling the production of substrate) and degradation (controlling how much needs to be degraded and stored). To put it simply, produce less (but enough) to store less.
Gene Therapy is a treatment approach that involves introducing genetic material into a person’s cells to fight or prevent the disease. Gene Therapy has been researched for more than 20 years with over 1,000 human clinical trials conducted for many genetic conditions such as severe combined immuno-deficiencies, haemophilia, Parkinson's disease, cancer and HIVs. A gene can be delivered to a cell using a "vehicle" or agent known as a vector. The most common types of vectors used in gene therapy are viruses, which are altered to make them safe. Whilst the technology is still fairly new and some risks exist, it has been used with some success and a gene therapy product was approved for use in a regulated market for the first time in 2013. The first Fabry man to receive Gene Therapy in a Phase I clinical study was in 2017 in Canada. Studies are now being enrolled to do further investigation.
To find out more about Gene Therapy:
Clinical Trials for Fabry Disease
Did you know that there are 120 Fabry disease studies listed on the Clinical Trials website, 17 of these are in Australia? Some are complete, some have recruited and some are recruiting. To learn more about which clinical studies are happening for Fabry disease go to ClinicalTrials.gov You can search by rare disease and check if any studies are happening in Australia. Remember - there may be a study not going on in your particular location, but you can still contact the study investigator to find out more about the research they are conducting.
Current Studies into Fabry disease in Australia PRESS HERE
How can friends and family help?
People with Fabry disease can have fluctuating health, so family members can be supportive by being patient and encouraging. Family members should learn to recognize signs of heart problems, such as dizziness, chest pain and shortness of breath. Family should also learn to recognize the signs and symptoms of a stroke or TIA, which can include sudden onset of one or some of the following: blurred vision, weakness of the face, limbs, especially on one side of the body, confusion, severe headache or balance problems.
If a person with Fabry disease experiences these symptoms, they should report to the Emergency Room as soon as possible. Those affected with Fabry may not be able to perspire very much or at all and may be sensitive to their environment’s temperature. Ensure they have blankets if cold, or provide fans if hot. Staying cool and well-hydrated in hot weather is important to avoid a possible pain flare-up.