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Michael Levine

Levine Sochett headshot

Investigators: Dr. Michael Levine and Dr. Étienne Sochett

Disease: CYP24A1 mutations, hypercalcemia, hypercalciuria

Research Description: Patients with loss of function mutations in the CYP24A1 gene are unable to degrade vitamin D byproducts. This leads to clinical consequences that include low levels of calcium, osteoporosis and renal stones. There is currently no accepted treatment that can reverse the effects of this mutation. A low-calcium diet is the only current option, but it is mostly ineffective. The research team will investigate if repurposing rifampin, a commonly used antibiotic, can provide a highly beneficial and long-term treatment for these patients. They will conduct a clinical trial among 5 patients with CY24A1 mutations. This research will be supported through a collaborative funding effort between Cures Within Reach and the Canadian Institutes of Health Research, designed to fund proof of concept repurposing clinical trials in rare diseases and to promote collaboration between U.S. and Canadian research institutions.

CWR funding role: Participating Funder

Completed: 2020 

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