Biomarin has selected a potential therapy candidate to test in human clinical trials in Friedreich’s ataxia. The compound, BMN 290, turns the frataxin gene back on by altering the three-dimensional structure of the genetic sequence.
Tests in animal models of Friedreich’s ataxia show that BMN 290 increases frataxin production in tissues more than two-fold, suggesting that — if the findings hold true in humans — the treatment has the potential to alter the course of the disease.
“We are pleased to share the progress of our development programs in therapies to treat rare genetic diseases; hemophilia A, PKU [phenylketonuria], achondroplasia and our next IND [investigational new drug application] into Friedreich’s Ataxia,” Hank Fuchs, MD, president of BioMarin’s Worldwide Research and Development, said in a press release covering the company’s most recent research efforts.
The news was shared at a research and development day during which the company also highlighted its progress in developing treatments for other rare diseases.
Biomarin plans to ask the U.S. Food and Drug Administration to allow human studies of the compound by submitting an IND application by the second half of 2018.
The compound is an improved version of a drug initially obtained from Repligen. In 2013, Repligen tested the compound — a so-called HDAC inhibitor — in a single Phase 1 trial in patients with Friedreich’s ataxia.
While the trial demonstrated that the drug triggered frataxin protein production without causing side effects, the company noted that it gave rise to potentially toxic metabolites, as originally reported by Xconomy.
Biomarin acquired the compound when Repligen decided to turn away from drug development to solely focus on bioprocessing.
Biomarin has improved the compound, and stated in the press release that they chose BMN 290 among other candidates because of its ability to penetrate into central nervous system tissue and the heart. It also is as selective as the original Repligen compound, Biomarin said.
Biomarin is working together with researchers at Scripps Research Institute to develop the compound — a development also facilitated by Friedreich’s ataxia advocacy organizations, including the Friedreich’s Ataxia Research Alliance.