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Drug Repurposing Hypothesis Generation Using the "RE:fine Drugs" System
Published on: December 11, 2016
Rare diseases and orphan drugs
Domenica Taruscio1, Fiorentino Capozzoli, Claudio Frank
1Centro Nazionale Malattie Rare, Istituto Superiore di Sanità, Rome, Italy. domenica.taruscio@iss.it
Annali Dell'Istituto Superiore Di Sanita
|March 25, 2011
Summary
Rare diseases, though individually uncommon, affect a significant portion of the EU population. European initiatives aim to overcome challenges in developing treatments, focusing on orphan drugs and specific national measures.
Area of Science:
- Public Health
- Pharmacoeconomics
- Rare Diseases
Background:
- Rare diseases are defined by low prevalence (≤5 in 10,000) but collectively impact a substantial percentage of the EU population.
- Over 6,000-8,000 distinct rare diseases exist, posing significant public health challenges.
- Development of treatments for rare diseases faces hurdles like limited patient populations and market viability.
Purpose of the Study:
- To review European initiatives addressing rare diseases.
- To discuss challenges and controversies in orphan drug development.
- To present Italian activities and measures for rare diseases.
Main Methods:
- Literature review of European regulations and initiatives.
- Analysis of factors hindering rare disease drug development.
- Examination of incentives for orphan drug development.
- Case study of Italian rare disease policies.
Main Results:
- The European Union has implemented various initiatives to support rare disease research and treatment.
- Orphan drug development faces economic and logistical challenges, necessitating specific incentives.
- Italy has adopted specific measures to facilitate rare disease diagnosis and therapy.
Conclusions:
- Despite individual rarity, rare diseases constitute a significant public health concern requiring coordinated efforts.
- European and national strategies are crucial for fostering the development and accessibility of orphan drugs.
- Continued focus on incentives and addressing development challenges is vital for improving outcomes for rare disease patients.
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