From the Guidelines
Mucopolysaccharidosis (MPS) should be treated with enzyme replacement therapy (ERT) or hematopoietic stem cell transplantation, depending on the type and severity of the disease, as these treatments have been shown to slow disease progression and improve quality of life 1.
Treatment Options
The treatment of mucopolysaccharidosis depends on the specific type of the disease. For example, idursulfase is used to treat MPS II (Hunter syndrome) 1.
- Enzyme replacement therapy (ERT) is available for several types of MPS, including MPS I, II, and VI.
- Hematopoietic stem cell transplantation may be beneficial for some patients, particularly those with MPS I diagnosed early.
Diagnosis and Management
Diagnosis of MPS typically involves urine tests to detect elevated glycosaminoglycans (GAGs), enzyme activity testing, and genetic analysis.
- Supportive care from a multidisciplinary team is essential to manage specific symptoms and complications.
- Early diagnosis and treatment are crucial as they can slow disease progression and improve quality of life, though they cannot completely reverse existing damage 1.
Importance of Early Treatment
It is essential to initiate treatment as early as possible to maximize the benefits and minimize the risks associated with MPS.
- A systematic evidence review of the treatment of MPS II (Hunter syndrome) found that ERT with idursulfase can improve certain clinical outcomes, such as walking capacity and respiratory function 1.
From the Research
Mucopolysaccharidosis Overview
- Mucopolysaccharidosis (MPS) is a group of inherited lysosomal storage diseases caused by mutations of enzymes involved in catalyzing different glycosaminoglycans (GAGs) 2
- MPS I and MPS II exhibit both somatic and neurological symptoms with a relatively high disease incidence 2
Treatment Options
- Hematopoietic stem cell therapy (HSCT) and intravenous enzyme replacement therapy (ERT) have had a significant impact on the treatment and comprehension of disease 2
- ERT increases life expectancy and alleviates some of the somatic symptoms, but musculoskeletal, ophthalmological, and central nervous system (CNS) manifestations are not controlled 2
- HSCT is effective in controlling the CNS symptoms and hence has been adopted as the standard treatment for severe types of MPS I 2
- Combination of ERT and HSCT has been used as therapy for Hurler syndrome, with acceptable morbidity and no alteration in engraftment 3
Emerging Therapies
- Novel therapies, including BBB-penetrable-ERT, gene therapy, and substrate reduction therapy, are under development to control currently unmanageable manifestations 2
- Gene therapy has the potential to "cure" the disease with a one-time treatment rather than just alleviate symptoms 2
- Several clinical studies on gene therapy reveal that delivering genes directly into the brain achieves better results than intravenous administration in patients with neurological symptoms 2
Disease Management
- Proper rehabilitation therapy, including physical and occupational therapy, surgical intervention, or medications, can benefit patients with uncontrolled musculoskeletal, respiratory, ophthalmological, and neurological manifestations 2
- Close monitoring and supportive/palliative therapy is of great importance for the time being, as new drugs are still in clinical stage 2