Mucopolysaccharidosis Type I (MPS I) is a progressive genetic disorder caused by deficiency of the enzyme alpha-L-iduronidase, leading to the accumulation of glycosaminoglycans (GAGs) in tissues and organs. The landscape of mucopolysaccharidosis Type 1 treatment has undergone remarkable transformation in recent decades, offering patients new therapeutic options and improved quality of life.

Enzyme Replacement Therapy: A Foundation of Care

The development and approval of ALDURAZYME (laronidase) revolutionized the management of MPS I by providing the missing enzyme through regular intravenous infusions. This therapy effectively reduces GAG accumulation in many tissues and organs, resulting in:

• Decreased liver and spleen volumes

• Improved respiratory function and exercise capacity

• Enhanced joint mobility and reduced joint stiffness

• Better cardiac function

For patients with attenuated forms of the disease (Hurler-Scheie and Scheie syndromes), enzyme replacement therapy has become a standard of care. However, the inability of the recombinant enzyme to cross the blood-brain barrier in sufficient quantities limits its effectiveness for neurological manifestations, particularly in the severe Hurler form of the disease.

Hematopoietic Stem Cell Transplantation for Severe Disease

For children with the severe Hurler phenotype, Hurler syndrome treatment typically involves hematopoietic stem cell transplantation (HSCT). When performed early, ideally before two years of age, this procedure can significantly alter disease progression by providing a continuous source of the deficient enzyme, including in the central nervous system.

Modern protocols frequently utilize a combination approach:

• Pre-transplant enzyme replacement therapy to improve the patient's clinical status

• HSCT from matched related or unrelated donors

• Continued supportive care to address residual disease manifestations

This integrated strategy has substantially improved outcomes for patients with severe MPS I, extending lifespan and preserving cognitive function when implemented early.

Gene Therapy: The Next Frontier

The most promising development in MPS Type I treatment is the advent of gene therapy approaches. These innovative therapies aim to provide a long-lasting solution by enabling patients' own cells to produce the missing enzyme, potentially eliminating the need for lifelong infusions or transplantation.

Several approaches are being investigated in clinical trials:

• Ex vivo lentiviral gene therapy that modifies autologous hematopoietic stem cells

• Direct in vivo gene delivery using adeno-associated viral vectors

• Gene editing technologies targeting the underlying genetic mutation

Early results suggest these approaches may offer sustained enzyme production with a single treatment intervention, potentially transforming the therapeutic landscape for MPS I patients.

Multidisciplinary Management and Supportive Care

While disease-modifying therapies address the underlying enzymatic deficiency, comprehensive management of MPS I requires a coordinated multidisciplinary approach. Patients benefit from:

• Regular assessments by specialists in cardiology, pulmonology, orthopedics, neurology, and ophthalmology

• Physical and occupational therapy to maintain function and mobility

• Surgical interventions for specific complications, including carpal tunnel release, spinal decompression, and cardiac valve replacement

• Respiratory support and management of sleep apnea

• Developmental and educational interventions

These supportive measures remain essential components of care, complementing enzyme replacement, transplantation, or gene therapy approaches.

Future Directions and Hope

The field of MPS I therapeutics continues to advance rapidly, with several promising areas of research:

• Modified enzymes engineered to cross the blood-brain barrier

• Small-molecule chaperones to enhance residual enzyme function

• Substrate reduction therapies to decrease GAG production

• Anti-inflammatory approaches to address secondary disease manifestations

For patients and families affected by this challenging disorder, these advancements offer unprecedented hope. While a definitive cure remains elusive, the evolution from a uniformly fatal disease to a manageable chronic condition represents one of the most significant achievements in rare disease therapeutics in recent decades.

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