Pharmacological chaperone therapy to treat patients with Pompe disease
- 1st oral treatment
- Increased bioavailability/efficiency
- Patient quality of life
- Reduction of the cost of treatment
- Pompe disease
- Rare disease
- Pharmacological chaperones
- Small molecules
- 1 patent
Pompe disease is a rare genetic disorder, requiring lifetime treatment with IV enzyme replacement therapy (ERT). It is caused by a defect or mutation in the lysosomal enzyme acid α-glucosidase (GAA) resulting in severe heart and skeletal muscle myopathies.
We have identified a new class of small molecules with the ability to specifically and selectively bind to GAA in order to stabilize the enzyme in its optimal conformation and enhance its activity in lysosomes.
Pharmacological chaperone therapy (PCT) would combine the advantages of oral administration of small molecules, better distribution in tissues (including the central nervous system), and less cumbersome treatment associated with lower cost compared to ERT.
State of progress
GAA specific and selective chaperone activity has been demonstrated in vitro and ex vivo on patient fibroblasts, the next step is the validation of POC in vivo on mice.
Oral treatment of Pompe disease would save lives in cases where ERT is ineffective. In addition, in combination with ERT, it would allow for the reduction of high doses of the enzyme administered and the spacing of perfusions to reduce side effects and improve patients' quality of life.
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