NIH Awards $325K Small Business Grant to Develop Risk Assessment Tool for Pompe Disease

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by Alice Melao |

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EpiVax PIMA tool

The National Institutes of Health (NIH) has awarded EpiVax with a Small Business Innovation Research (SBIR) grant of $324,980. The company is going to use the funding to further develop its Personalized Immunogenicity Assessment (PIMA) tool, designed to assess risk of enzyme replacement therapy failure in patients with Pompe disease.

The SBIR program is one of the largest sources of early-stage funding for innovative biomedical technologies seeking commercialization in the United States. The programs allow U.S.-based small businesses to participate in federal research and development with the final goal of reaching the market.

Pompe disease is characterized by genetic mutations in the GAA gene, which leads to defective production of the alpha-glucosidase enzyme and consequent accumulation of glycogen (a complex sugar molecule) in cells.

Enzyme replacement therapies (ERTs) significantly improve survival, as well as reduce cardiac and motor symptoms in infantile Pompe patients.

However, some patients may develop so-called anti-therapeutic antibodies, or ATAs, working against the ERT, which can reduce the effectiveness of the treatment.

Treatments developed to enhance the patient’s immune tolerance can be used to relieve this problem. Still, prompt identification of patients at risk for developing ATA could improve patient care and overall ERT treatment success.

The PIMA tool was created to assess the risk of Pompe disease patients developing ATA. It is based on the hypothesis that the ATA immune response is driven not only by small sequences in the engineered alpha-glucosidase enzyme that are recognized as foreign, but also by the underlying genetics of the patient that will trigger an immune T-cell response.

EpiVax is developing the PIMA tool in collaboration with Duke University researchers.

“A personalized prediction tool could potentially enable clinicians to more effectively manage enzyme replacement therapy for patients with Pompe disease, leading to improved quality of life and efficacy for this otherwise lethal disorder,” Priya Kishnani, MD, said in a press release. Kishnani is director of the Alice and YT Chen Pediatric Genetics and Genomics Research Center of the Duke University School of Medicine.

Patients with other rare diseases that are characterized by enzyme deficiencies also are at risk of ATA. Given that, this tool has the potential to identify high-risk patients and guide the optimal implementation of immune tolerance induction treatment to overcome the effects of ATA.

“Proof of principle may pave the way for this personalized risk assessment to be applied to related enzyme deficiencies, such as Niemann-Pick disease, Gaucher disease, and Fabry disease,” said Annie De Groot, MD, CEO and chief scientific officer of EpiVax.