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. 2014 Jun;32(6):515-8.
doi: 10.1038/nbt.2924.

Expanding rare disease drug trials based on shared molecular etiology

Philip J Brooks  1 , Danilo A Tagle  2 , Steve Groft  1
Affiliations

Expanding rare disease drug trials based on shared molecular etiology

Philip J Brooks et al. Nat Biotechnol. 2014 Jun.
No abstract available

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Figures

Figure 1
Figure 1
Benefits of grouping by molecular etiology. Shown are schematic representations of three different diseases, cystic fibrosis, Tay-Sachs, and Gaucher disease. In each disease, multiple patients have PTC mutations, protein folding mutations, or other mutations. According to the current approach (panel A), testing a PTC read-through drug and a protein folding drug would involve 6 different trials (red boxes). In contrast, if patients are grouped on the basis of molecular etiology (panel B), only two trials would be needed (green boxes). For further discussion, see text.
See this image and copyright information in PMC

References

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