Evaluation of orphan diseases global burden

Area of Science:

• Health Economics
• Public Health
• Rare Diseases

Background:

• Orphan diseases represent a substantial socio-economic challenge globally and within Russia.
• Existing global burden of disease metrics (e.g., DALY, QALY, HALE) offer potential for economic modeling and healthcare funding distribution.

Purpose of the Study:

• To highlight the challenges in standardizing rare diseases for economic analysis.
• To emphasize the need for developing cost-effective treatment options and standards of care for orphan diseases.

Main Methods:

• Analysis of the applicability of global burden of disease metrics to rare diseases.
• Discussion of economic modeling challenges for heterogeneous rare disease populations.
• Review of current limitations in treatment options and standards of care.

Main Results:

• Standardizing the heterogeneous group of rare diseases for economic evaluation is difficult.
• The search for cost-effective treatments is complicated by limited therapeutic options, often restricted to single pathogenetic therapies.
• Current standards of care are insufficient to maintain patient health, work capacity, and quality of life.

Conclusions:

• Further research is required to identify optimal treatment strategies for orphan diseases.
• Establishing comprehensive standards of care is crucial for improving the lives of individuals with rare diseases.
• Integrating economic metrics effectively requires addressing the unique challenges posed by orphan diseases.