Our Solutions Portfolio

Rare diseases, defined as conditions affecting fewer than 1 in 2,000 individuals, represent a critical public health challenge worldwide. Although each rare disease affects a small population, collectively, they impact millions—approximately 3.5%-5.9% of the global population or up to 446 million people (Nguengang Wakap et al., 2019). These diseases are often genetic, progressive, and life-threatening, with limited treatment options.

The development of targeted therapies, including enzyme replacement therapies (ERTs), monoclonal antibodies (mAbs), and orphan drugs, has revolutionized care for some rare diseases. However, high costs, limited manufacturing capacity, and unequal access create significant barriers, especially in low- and middle-income regions.

The rare disease therapeutics market, valued at over $144 billion in 2021, is projected to grow at a CAGR of 12%through 2030, driven by:

1. Innovative Therapies: Advances in genomics and biotechnology are fueling the development of precision medicines.
2. Policy Frameworks: Increasing adoption of national plans and reimbursement schemes for orphan drugs.
3. Rising Awareness: Advocacy by patient organizations is improving diagnosis and access to care in underserved areas (Detiček et al., 2018).

ERTs are vital for managing lysosomal storage disorders (LSDs), such as Gaucher disease and Fabry disease, offering life-altering benefits despite high costs.

Southeast Asia (SEA):

• Access Challenges:
  • ERTs are prohibitively expensive, limiting access to only 10%-20% of patients with LSDs in SEA. Many patients remain undiagnosed due to lack of awareness and diagnostic tools (Nguengang Wakap et al., 2019).
• Regional Focus:
  • Countries like Malaysia are building specialized centers for LSD management to improve diagnosis and treatment rates.

Middle East and Africa (MEA):

• Treatment Gaps:
  • Less than 15% of LSD patients have access to ERTs. Limited reimbursement policies and lack of diagnostic resources are significant barriers (El Ekiaby et al., 2023).
• Efforts Underway:
  • Initiatives to develop national plans for rare diseases aim to increase awareness and infrastructure for ERTs.

Latin America (LATAM):

• Access Disparities:
  • Access to ERTs remains below 30%, particularly outside urban areas. Cost and limited insurance coverage are major barriers (Detiček et al., 2018).
• Progress:
  • Brazil has established subsidized programs for LSDs, although gaps persist in rural regions.

Eastern Europe:

• ERT Availability:
  • Access to ERTs is expanding, but only 50%-60% of patients receive adequate treatment due to fragmented healthcare systems (Stefanov & Taruscio, 2009).
• Policy Gaps:
  • Many countries lack comprehensive rare disease policies, delaying treatment access for LSD patients.

mAbs are increasingly used for orphan cancers and autoimmune rare diseases, offering targeted treatment options.

Southeast Asia (SEA):

• Barriers to Access:
  • High costs and limited local manufacturing restrict access to mAbs for rare cancers and conditions like paroxysmal nocturnal hemoglobinuria (PNH).
• Future Potential:
  • International collaborations are expected to enhance affordability and distribution.

Middle East and Africa (MEA):

• Minimal Availability:
  • Access to mAbs for rare diseases is largely confined to wealthier Gulf countries, while low-income nations face significant gaps in availability (Requena-Méndez et al., 2020).
• Investment Needs:
  • Increased investment in rare disease treatment programs is essential to bridge the gap.

Latin America (LATAM):

• Emerging Markets:
  • Growing demand for mAbs in oncology and autoimmune diseases is driving market expansion, but cost remains a significant barrier.
• Government Support:
  • Subsidized treatment programs for rare diseases are slowly improving mAb access in countries like Mexico and Argentina.

Eastern Europe:

• Access Disparities:
  • Wealthier countries like Poland and Hungary have better access to mAbs, while others rely on imports and face long delays in reimbursement (Czech et al., 2020).
• Policy Improvements:
  • Efforts to harmonize rare disease policies with EU standards are underway.

Orphan drugs address a wide range of rare diseases but face challenges in accessibility and affordability.

Southeast Asia (SEA):

• Low Availability:
  • Many orphan drugs approved in high-income countries remain unavailable in SEA due to cost and regulatory barriers.
• Progress:
  • Thailand and Singapore are leading efforts to develop rare disease registries and subsidize orphan drug programs.

Middle East and Africa (MEA):

• Limited Access:
  • Fewer than 20% of orphan drugs are accessible in MEA countries, and most are concentrated in wealthier nations like Saudi Arabia (Requena-Méndez et al., 2020).
• Challenges:
  • Lack of centralized registries and funding delays the rollout of new therapies.

Latin America (LATAM):

• Access Variability:
  • While countries like Brazil have national rare disease policies, access to orphan drugs remains limited in rural areas and low-income regions.
• Potential Solutions:
  • Regional collaborations and price negotiations could improve affordability.

Eastern Europe:

• Reimbursement Gaps:
  • Access to orphan drugs varies significantly, with wealthier EU member states providing better reimbursement rates than non-EU countries like Ukraine (Stefanov & Taruscio, 2009).

• Progress:
  • National plans for rare diseases are improving registry coverage and drug access.

1. Cost: High costs of ERTs, mAbs, and orphan drugs limit access in SEA, MEA, LATAM, and Eastern Europe.
2. Awareness: Limited awareness among healthcare professionals and patients delays diagnosis and treatment.
3. Infrastructure: Fragmented healthcare systems and lack of rare disease registries exacerbate disparities.
4. Policy Gaps: Inconsistent reimbursement policies hinder the availability of rare disease therapies.

• Regional Collaborations: Joint procurement and price negotiations could improve affordability.
• Awareness Campaigns: Training for healthcare providers and public education can enhance early diagnosis.
• Investment in Infrastructure: Establishing rare disease centers and registries will streamline access to care.