Between hope and reality: treatment of genetic diseases through nucleic acid-based drugs

Area of Science:

• Biomedical Science
• Genetics
• Pharmacology

Background:

• Rare diseases (RD) affect few individuals, often with genetic origins, leading to severe symptoms and limited lifespan.
• Historically, low prevalence and diagnostic delays hindered RD research and treatment development.
• Nucleic acid (NA)-based therapies represent a significant advancement in treating rare genetic conditions.

Purpose of the Study:

• To review approved and investigational NA-based drugs for rare diseases.
• To discuss advancements in NA therapeutic structures and delivery systems.
• To explore challenges in NA therapy market expansion, including endosomal escape and ethical considerations.

Main Methods:

• Literature review of approved and clinical-stage NA-based therapies for rare diseases.
• Analysis of recent structural modifications and delivery systems for NA therapeutics.
• Discussion of current strategies to overcome endosomal escape barriers.
• Examination of regulatory and production sustainability issues.

Main Results:

• NA-based therapies are emerging as a transformative treatment modality for various rare diseases.
• Structural improvements and novel delivery systems are enhancing NA therapeutic efficacy and expanding market potential.
• Addressing endosomal escape remains a critical area of ongoing research and development.

Conclusions:

• Nucleic acid therapies hold immense promise for revolutionizing rare disease treatment.
• Continued innovation in drug development, delivery, and addressing manufacturing/ethical concerns is crucial for widespread adoption.
• The field requires careful consideration of regulatory pathways and sustainable production models.