Research opportunities
Find out what Fabry patient surveys and trials you can participate in and what financial incentives there are.
Fabry Disease
What is Fabry?
Fabry disease is closely related to mucopolysaccharidoses and is one of the lysosomal storage diseases. It was first described in 1898 by William Anderson and Johannes Fabry and is also referred to by some as Anderson–Fabry disease.
What causes Fabry?
In the course of normal life there is a continuous recycling process in the body which consists of building new materials and breaking down old ones ready for disposal. This activity takes place in a special part of the body’s cells called the lysosome. This process requires a series of biochemical tools called enzymes. The enzyme alpha-galactosidase A (alpha-GAL) is essential in breaking down the fatty acid globotriaosylceramide (GL3).
People with Fabry cannot make enough of alpha-GAL, without enough levels of the enzyme the normal functioning of vital organs is affected. When GL3 is not completely broken down it builds up within the cells of the body causing progressive damage. Organs such as kidney, heart and brain eventually start to deteriorate, and severe or life-threatening complications can arise. Babies may show little sign of the disease but as more and more cells become damaged by an accumulation of these waste products, symptoms start to appear.
Fabry Findings
Rare Disease Research Partners have produced a series of publications on behalf of the Fabry International Network which present the findings from research carried out in the Fabry community. You can download the first two issues below.
You might be interested in the Hidden Disabilities Sunflower, it's a discreet way for adults and children with hidden disabilities to show that they need additional support or just a little more time.
You can now get a card which indicates that you are out shopping/exercising to clip onto your Hidden Disabilities lanyard to use during social-distancing.
Useful links
Contact us
Our helpline is open 9-5pm
Monday-Friday: 0345 389 9901
Out of hours support line open 5pm-10pm Monday-Friday and weekends:
07712 653 258
Treatment
For available treatment options and the latest news and information on research, therapies and clinical trials please visit our treatment section.
Introducing Donna
My name is Donna Parker and I'm the new Advocacy and Support Officer for the MPS Society. My background has mainly revolved around the healthcare sector, and I spent many years working in retail banking and customer service. I am also a Registered Nurse and prior to starting with the MPS Society, I worked in a hospice, dealing with symptom management, palliative and end of life care, for patients with life-limiting conditions and diseases.
I will be working with the Fabry community and with the Metachromatic Leukodystrophy (MLD) community. I'm very much looking forward to supporting everyone at the MPS Society and will hopefully meet some of you soon.
