Through medical research and clinical trials, we know we will find innovative ways in which to cope with living with MPS, Fabry or a related lysosomal disease.
The MPS Society shares knowledge, expertise and works in partnership and collaboration with other patient organisations, medical authorities and scientific institutions across the world, in order to facilitate progress towards research and better treatment for those living with one of our conditions.
Research is an important part of the Society’s work and the donations we receive go not only to supporting affected families, but also into funding research.
Parents and patients are encouraged to talk to their expert clinician to discuss whether there are any clinical trial opportunities.
Haematopoietic Stem Cell Transplantation (HSCT)
For people with alpha-mannosidosis HSCT is the treatment of choice. The immediate benefits include correction of the missing or deficient enzyme. The long-term benefits include a longer life by protecting the heart, lungs and brain from the effects of progression of alpha-mannosidosis. Other organs and tissues can also show benefits from the therapy; these include the eyes and ears, liver, spleen, joints and airways. Therapeutic benefit has not been shown in preventing the damage to the brain that occurs in people severely affected by alpha–mannosidosis.
The Scottish Medicines Consortium (SMC) has accepted pegungalsidase alfa (Elfabrio®), for the long-term treatment of adults with Fabry disease for restricted use.
