Global Rare Disease Precision Therapies Continue to Advance: Enzyme Replacement and Targeted Biologics Enter a New Phase

By:DengYue International Business Division

In recent years, the global rare disease landscape has shifted from symptomatic management to mechanism-based intervention. Across lysosomal storage disorders, immune-mediated hematologic diseases, and amyloidosis, enzyme replacement therapies (ERTs) and next-generation targeted biologics are refining treatment paradigms while reshaping industry structure and reimbursement frameworks.

Innovative agents such as Imiglucerase, Agalsidase beta, Caplacizumab, and Eplontersen exemplify the parallel evolution of precision therapy and long-term disease management across multiple rare indications.

As a Hong Kong–based pharmaceutical export enterprise specializing in specialty therapeutics, DengYueMed closely monitors global developments in enzyme replacement therapies and targeted biologics. Within a framework emphasizing regulatory compliance and quality assurance, we are committed to facilitating the international circulation and accessibility of high-quality medicines.

I. Enzyme Replacement Therapy (ERT): The Cornerstone of Lysosomal Storage Disorder Management

1. Imiglucerase — A Long-Standing Standard for Gaucher Disease

Imiglucerase is a recombinant glucocerebrosidase indicated for the treatment of Gaucher disease. As one of the earliest widely adopted ERT products globally, it has accumulated extensive long-term clinical data and established a solid evidence base for improving hepatosplenomegaly, anemia, and thrombocytopenia.

Key industry trends include:

● A shift toward long-term organ protection and quality-of-life improvement

● Expanded multi-regional manufacturing capacity to enhance global supply stability

● Growing reliance on real-world evidence (RWE) to support regulatory confidence

Imiglucerase represents the “stable, safe, long-term management” model of enzyme replacement therapy in rare diseases.

2. Agalsidase beta — Continued Optimization in Fabry Disease Care

Agalsidase beta is indicated for Fabry disease, functioning by supplementing deficient α-galactosidase A to reduce glycosphingolipid accumulation.

Recent areas of clinical and industry focus include:

● Long-term cardiac and renal outcome data

● Earlier intervention in pediatric populations

● Optimization of dosing strategies and treatment duration

In Fabry disease, ERT remains a central therapeutic approach while increasingly coexisting—and in some cases competing—with gene therapies and RNA-based modalities.

II. Precision Intervention in Acute Hematologic Disease: Caplacizumab Reshapes aTTP Management

Acquired thrombotic thrombocytopenic purpura (aTTP) is a life-threatening immune-mediated hematologic disorder traditionally managed with plasma exchange and immunosuppression.

Caplacizumab is a humanized nanobody targeting von Willebrand factor (vWF). By inhibiting the interaction between vWF and platelets, it rapidly suppresses microthrombus formation.

Its clinical and industry significance includes:

● Significantly shortened time to platelet count normalization

● Reduced recurrence risk

● Transition of aTTP management from rescue-based intervention to mechanism-driven blockade

The evolution of aTTP treatment reflects a broader trend toward precision immunomodulation in rare hematologic diseases.

III. RNA-Targeted Therapy: Eplontersen and the Expansion of ATTR Treatment

Transthyretin amyloidosis (ATTR) is a progressive systemic disorder affecting the peripheral nervous system and the heart.

Eplontersen is an antisense oligonucleotide (ASO) therapy targeting TTR mRNA, reducing the production of pathogenic transthyretin protein and thereby decreasing amyloid deposition at its source.

Key industry implications include:

● Further maturation of RNA-based therapies in rare diseases

● Expansion of indications from hereditary polyneuropathy (ATTRv-PN) to cardiomyopathy

● Increasing emphasis on long-term dosing convenience and safety profiles

The ATTR therapeutic space has emerged as a major frontier for molecular-level intervention in rare disease management.

Structural Industry Shifts: From Enzyme Replacement to Gene and RNA Therapies in Parallel

The above therapies illustrate several core trends in rare disease treatment:

● Greater mechanistic precision — from enzyme supplementation to molecular pathway modulation

● Longer-term data accumulation — with real-world evidence as a critical support pillar

● More stringent reimbursement evaluation — requiring demonstration of long-term cost-effectiveness

● Diversified global supply chains — ensuring stable access to high-value rare disease therapies

Although patient populations remain limited, rare disease therapeutics carry high per-product value and significant technical barriers, making this field a benchmark for global regulatory compliance and R&D depth.

Conclusion

As rare disease management continues to transition toward precision and long-term care models, enzyme replacement therapies and novel targeted biologics are developing in parallel. From the established clinical pathways of Imiglucerase and Agalsidase beta to the molecular innovations represented by Caplacizumab and Eplontersen, the rare disease therapeutic landscape is undergoing sustained structural upgrading.

Overall, the global rare disease market is characterized by three prominent trends:

1.  An increasing proportion of biologics

2.  Greater emphasis on long-term management and real-world data

3.  Heightened focus on supply chain stability and regulatory compliance in international collaboration

As a Hong Kong–based pharmaceutical export enterprise, DengYueMed remains committed to international GMP standards and robust compliance systems, closely tracking technological and market developments in rare and specialty therapeutics.

Amid rising global healthcare cost pressures and stricter access requirements, Chinese pharmaceutical companies are evolving from cost-driven participants into competitors that balance quality and innovation. With continued advances in biologics development, manufacturing processes, and global regulatory alignment, high-quality Chinese medicines are poised to play an increasingly important role in the global rare disease ecosystem—delivering sustainable, long-term treatment options to patients worldwide.