Case Studies
Rare Diseases Programs
Enzyme Replacement Therapy
Challenge
Demonstrating benefit-risk with only 58 patients in pivotal trial and no validated efficacy endpoint
ArcaScience Approach
Integrated natural history registry data from 340 patients with Bayesian analysis and surrogate biomarker validation
Results
- ✓External control arm accepted by FDA
- ✓Biomarker-based benefit quantification validated
- ✓Orphan drug designation BRA package approved
Antisense Oligonucleotide
Challenge
Accelerated approval based on surrogate biomarker (dystrophin) with post-marketing confirmatory trial obligations
ArcaScience Approach
Surrogate endpoint validation framework integrating dystrophin expression with functional motor outcomes from natural history comparison
Results
- ✓Accelerated approval BRA documentation
- ✓Post-marketing surveillance framework established
- ✓Functional endpoint trajectory modeling for confirmatory trial design
Gene Therapy
Challenge
Balancing transformative one-time treatment benefit against durability uncertainty and hepatotoxicity risk
ArcaScience Approach
Long-term benefit-risk projection model integrating factor VIII expression durability, bleeding rate reduction, and liver safety monitoring
Results
- ✓10-year benefit-risk projection model
- ✓Liver safety monitoring algorithm automated
- ✓Supported FDA BLA and EMA MAA submissions
Aggregate Outcomes
Results Across Rare Diseases Programs
70%+
Reduction in BRA Preparation Time
90%+
Accuracy in AE Classification
3x
Faster Regulatory Submissions
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