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Genetic Linkage

Progress and a Setback in Treating Rare Genetic Diseases: Hemophilia A, CLN1, SMA, and DMD

In these strange days of the pandemic, it's easy to forget that people are still sick with the illnesses that we've always faced – and not just the common ones like cardiovascular disease and cancer. Times are particularly tough for the millions of people who have rare diseases.

 

Research continues into developing new treatments for rare diseases, despite the current difficulties, with some recent good news. But first, a setback.

 

Hemophilia A: Two More Years of Data Needed

 

On August 18, FDA ruled that a submission for approval of a gene therapy to treat severe hemophilia needs another two years of evidence to demonstrate that the treatment is really a "one-and-done." The agency is seeking data demonstrating "a durable effect using Annualized Bleeding Rate," a metric that the developer, Biomarin, claims had not been brought up prior to submission of the phase 3 findings.

 

Perhaps the extra scrutiny reflects the fact that treatment has been available since 1992 –recombinant clotting factor VIII. And gene therapy has been in the works for awhile. In fact, I interviewed the very first patient to receive gene therapy for hemophilia A, back in 1999. That trial used the same dangerous vector, a retrovirus, to deliver the gene that would kill Jesse Gelsinger later that year and derail the entire field.

 

 

To continue reading, go to DNA Science, where this post first appeared.

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