Hunter Syndrome treatment focuses on managing symptoms, slowing disease progression, and improving patients’ quality of life, as there is currently no complete cure. The primary medical approach involves enzyme replacement therapy (ERT) with idursulfase, which helps compensate for the missing iduronate-2-sulfatase enzyme responsible for breaking down glycosaminoglycans (GAGs). ERT can reduce organ enlargement, improve respiratory function, and enhance mobility, although it has limited effect on neurological symptoms due to its inability to cross the blood–brain barrier. In addition, supportive treatments—such as physical therapy, respiratory care, cardiac monitoring, and surgical interventions for hearing loss or airway obstruction—play a crucial role in long-term management.
Innovations in gene therapy and intrathecal treatments are emerging as promising options for addressing cognitive decline and neurological complications. These advanced therapies aim to deliver the enzyme directly to the central nervous system or modify the patient’s genetic makeup to enable sustained enzyme production. Although still under clinical evaluation, early-stage studies show potential for improved cognitive outcomes and slower neurological deterioration. As research advances, the combination of targeted genetic therapies, optimized ERT, and comprehensive supportive care is expected to significantly improve survival rates and overall quality of life for individuals living with Hunter Syndrome.
Hunter Syndrome treatment focuses on managing symptoms, slowing disease progression, and improving patients’ quality of life, as there is currently no complete cure. The primary medical approach involves enzyme replacement therapy (ERT) with idursulfase, which helps compensate for the missing iduronate-2-sulfatase enzyme responsible for breaking down glycosaminoglycans (GAGs). ERT can reduce organ enlargement, improve respiratory function, and enhance mobility, although it has limited effect on neurological symptoms due to its inability to cross the blood–brain barrier. In addition, supportive treatments—such as physical therapy, respiratory care, cardiac monitoring, and surgical interventions for hearing loss or airway obstruction—play a crucial role in long-term management.
Innovations in gene therapy and intrathecal treatments are emerging as promising options for addressing cognitive decline and neurological complications. These advanced therapies aim to deliver the enzyme directly to the central nervous system or modify the patient’s genetic makeup to enable sustained enzyme production. Although still under clinical evaluation, early-stage studies show potential for improved cognitive outcomes and slower neurological deterioration. As research advances, the combination of targeted genetic therapies, optimized ERT, and comprehensive supportive care is expected to significantly improve survival rates and overall quality of life for individuals living with Hunter Syndrome.
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