My Fabry Disease

Treatments

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There are now some well established treatments for Fabry Disease. There is also an active research community that is looking at less cumbersome treatment options, and possible cures. So it’s actually a very positive time to be a Fabry patient.

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Current Treatments

The UK has three main treatment options for Fabry Disease:

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Replagal

Replagal is a type of enzyme replacement therapy (ERT). It is given by infusion, usually once every two weeks. The substance that does the work is called agalsidase alpha which works by replacing the missing enzyme α-Gal A.

 

Fabrazyme

Fabrazyme is another type of enzyme replacement therapy (ERT) and is administered by infusion, usually once every two weeks. This treatment works by replacing the missing enzyme. The substance that does the work for this product is agalsidase beta which comes in a powdered form that has to be mixed with sterile water before being added to the infusion bag. Reactions to Fabrazyme can be severe, so some patients are given antihistamines and paracetamol to take an hour before infusion. It is important to monitor each infusion and seek medical advice immediately if any reaction occurs. The time taken for an infusion of Fabrazyme may be increased if a reaction has occurred in the past.

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Migalastat (Galafold)

A new oral treatment, Migalastat (Galafold) has recently been introduced following a series of trials. This is in tablet form and has to be taken every other day, at the same time of day.  It is classed as a chaperone therapy and it works by binding to some forms of the faulty α-Gal A enzyme. This changes the shape of the faulty α-Gal A which enables it to get into the lysosome and breakdown the excess fat (Gb3). At present Migalastat can bind to faulty enzymes produced by 269 different mutated genes and so is only available as an option to Fabry patients who have those specific mutations.

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Enzyme Replacement Therapy (ERT) Infusions

Enzyme Replacement Therapy Infusions – the process for both Replagal and Fabrazyme.

Initially the infusions are given at hospital by a specialist metabolic nurse, to check for reactions. After these sessions (three in my case), you are transferred to a home care team and you are given your infusions at your home. Infusions for children may take place in a hospital setting for a longer period of time.

There are three types of homecare visits:

1. Fully Dependent

2. Semi Independent

3. Independent

 

I believe everyone begins the Fully Dependent visits. For these type of home care visits, the nurse carries out the whole infusion process. The nurse will cannulate you, make up your drugs, set up and monitor your infusion, carry out a flush and take you off the infusion.

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If you are Semi-Independent, the homecare nurse only completes part of the process. For example the nurse may cannulate you, make up your drugs and put you on the infusion. After completing any paperwork, the nurse may then leave you to put up your own flush and take yourself off the infusion. There are variations to this though, and this will depend on patient requirements. I get the impression that most patients are encouraged to be semi-independent as this cuts down the time the homecare nurse needs to spend in your home, enabling them to see more patients in a typical day.

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If you are Independent, you basically do the whole process yourself. The drugs and infusion peripherals are delivered to you and you cannulate yourself, make up your own drugs and put up, and take down, your own infusion.

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For both semi-independent and independent patients, full training must be given until the patient is fully confident that they can carry out the processes without supervision.

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All home care patients should have a number to call if they have any issues prior to, during or after their infusion.