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.
Chaperone therapy
Chaperones are small molecules that assist enzymes in becoming functional by helping them take the correct shape and stay stable. With chaperone therapy, some faulty forms of alpha-GAL enzyme can be corrected and delivered to the lysosomes so that the excess GL3 can be broken down.
The name for the chaperone therapy treatment in Fabry is migalastat and the brand name is Galafold®. Galafold® was licensed as the first oral chaperone therapy in Fabry and has been available in the UK since 2016 for adults and adolescents 16 years of age and older. Patients must have a confirmed diagnosis of Fabry and the mutation in the galactosidase alpha (GLA) gene that produces an alpha-GAL enzyme that responds to the treatment.
Galafold® is an oral capsule taken every other day. More information about Galafold® can be found at www.galafold.co.uk and a European version of the patient information leaflet is here. Further information on this treatment is available from the electronic medicines compendium.
Enzyme Replacement Therapy (ERT)
For people with Fabry ERT is a long-term therapy whereby the missing or deficient enzyme is given via an intravenous infusion. Currently Fabrazyme ® (agalsidase beta) and Replagal ® (agalsidase alpha) are both ERTs for the treatment of Fabry and both are approved in the UK. ERT helps to normalise kidney and heart function, and blood supply to the brain.
Fabrazyme ® is an infusion administered every other week at home for patients aged 8 years and older. More information about Fabrazyme® can be found at www.fabrazyme.com and a UK version of the patient information leaflet is here. Further information on this treatment is available from the electronic medicines compendium.
Replagal® is an infusion administered every other week over 40 minutes and is usually administered at home for patients aged 7 years and older. More information about Replagal® can be found at www.shire.com and a UK version of the patient information leaflet is here. Further information on this treatment is available from the electronic medicines compendium.
Bone Marrow Transplants
Children with fucosidosis have been treated by Bone Marrow Transplants (BMT), though this has not been shown to have any effect in preventing the damage to the brain, moving, walking and other physical abilities are improved considerably. More benefits are seen from BMT when the treatment is carried out very early, possibly during the first year of life.
Haematopoietic Stem Cell Transplantation (HSCT)
HSCT has been used to treat people with MLD. This procedure is not currently recommended for children with the late infantile form of MLD. HSCT may potentially be beneficial in people with late juvenile or adult onset MLD who are in the early stages of the disease.
Enzyme Replacement Therapy (ERT)
For people with Hurler-Scheie and Scheie diseases ERT is a long-term therapy whereby the missing or deficient enzyme is given via an intravenous infusion. The name for the replacement enzyme in MPS I is laronidase and the brand name is Aldurazyme®. Aldurazyme® was licensed as an ERT in 2003 and has been shown to reduce many of the non-brain related symptoms, such as improving respiratory function and mobility, and reducing joint stiffness.
Aldurazyme® is a weekly infusion lasting 3 to 4 hours that is usually administered at home. More information about Aldurazyme® can be found at www.aldurazyme.com and a UK version of the patient information leaflet is here. Further information on this treatment is available from the electronic medicines compendium.
For people with Hurler disease ERT is administered for a brief time before and after Haematopoietic Stem Cell Transplantation therapy.
Haematopoietic Stem Cell Transplantation (HSCT)
For Hurler disease HSCT is the treatment of choice for children up to 2 years old. 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 MPS I. Other organs and tissues can also show benefits from the therapy; these include the eyes and ears, liver, spleen, joints and airways. Even after a successful transplant and experiencing several benefits many people with MPS I may still require a range of orthopaedic surgeries.
Enzyme Replacement Therapy (ERT)
For people with MPS II ERT is a long-term therapy whereby the missing or deficient enzyme is given via an intravenous infusion. The name for the replacement enzyme in MPS II is idursulfase and the brand name is Elaprase®. Elaprase® was licensed as an ERT in 2007 and has been shown to reduce many of the non-brain related symptoms, such as improving respiratory function and mobility and reducing joint stiffness.
Elaprase ® is a weekly infusion lasting between 1 to 3 hours that can be administered at home. More information about Elaprase ® can be found at www.elaprase.com and a UK version of the patient information leaflet is here. Further information on this treatment is available from the electronic medicines compendium.
Enzyme Replacement Therapy (ERT)
For people with MPS IVA ERT is a long-term therapy whereby the missing or deficient enzyme is given via an intravenous infusion. The name for the replacement enzyme in MPS IVA is elosulfase alfa and the brand name is Vimizim®. Vimizim® was licensed as an ERT in 2014 in the EU and approved for use in MPS IVA in the UK in 2015. The treatment has led to overall less physical deterioration leading to reduced disability and some people benefiting from increased energy levels. The treatment is unlikely to reduce certain complications, such as spinal cord damage.
Vimizim® is a weekly infusion lasting 4 to 5 hours that is usually administered at home. More information about Vimizim® can be found at www.vimizim.com and an EU version of the patient information leaflet is here. The Managed Access Agreement (MAA) guide for patient and parents is here.
Enzyme Replacement Therapy (ERT)
For people with MPS VI ERT is a long-term therapy whereby the missing or deficient enzyme is given via an intravenous infusion. The name for the replacement enzyme in MPS VI is galsulfase and the brand name is Naglazyme®. Naglazyme® was licensed as an ERT in 2006 in the EU and approved for use in MPS VI in the UK in 2005. The treatment has led to overall less physical deterioration leading to reduced disability, improving respiratory function and reducing joint stiffness.
Naglazyme ® is a weekly infusion lasting about 4 hours that can be administered at home. More information about Naglazyme® can be found at www.naglazyme.com and an EU version of the patient information leaflet is here.
Enzyme Replacement Therapy (ERT)
For people with MPS VII ERT is a long-term therapy whereby the missing or deficient enzyme is given via an intravenous infusion. The name for the replacement enzyme in MPS VII is vestronidase alfa-vjbk and the brand name is MEPSEVII®. MEPSEVII® received FDA approval in November 2017.
MEPSEVII® it is a fortnightly intravenous infusion lasting 4 hours. More information about MEPSEVII® can be found at www.mepsevii.com.
Haematopoietic Stem Cell Transplantation (HSCT)
Use of HSCT for MPS VII is limited by the rarity of the disease and tendency toward stillbirths. In certain circumstances, MPS VII can be effectively treated by HSCT provided that the developmental and clinical condition is good at the time of HSCT.
At present there is treatment for symptoms as they arise, but no cure for the underlying disease.
Haematopoietic Stem Cell Transplantation (HSCT)
Use of HSCT for ML II is limited by the rarity of the disease. In certain circumstances, ML II can be treated by HSCT provided that the developmental and clinical condition is good at the time of HSCT.
The Scottish Medicines Consortium (SMC) has accepted pegungalsidase alfa (Elfabrio®), for the long-term treatment of adults with Fabry disease for restricted use.
