An FDA-Approved Drug for Rare Disease TSC

It’s always exciting when the Food and Drug Administration (FDA) gives a new drug its approval, especially for rare diseases like tuberous sclerosis complex (TSC).

This is the culmination of thousands of hours of research and development from the chemists at the pharmaceutical company, hundreds of lab tests, numerous clinical trials, and a whole lot of money. This apparatus is in place to insure that only drugs that are safe and effective reach the market.

FDA approval is even more exciting when the drug in question is the first one approved for a condition. When people living with this hitherto unmedicated condition hear about what the pharma companies have in the pipeline, they start to get excited. They read press releases and news reports about the lab tests. They apply for and are sometimes accepted into the clinical trials. And they rejoice when the approval is given.

People living with certain forms of TSC are finally among those who have something to cheer for. This rare genetic disorder, which affects less than 50,000 people in the US, is caused by benign tumors growing all over the body. These tumors can appear in almost any internal organ, or even the skin. It frequently co-presents with epilepsy, development and behavioral issues, and skin discoloration. Unfortunately, the symptoms are so mild that people are not diagnosed until adulthood, or even go undiagnosed.

Among TSC patients, there’s a subset of people with subependymal giant cell astorcytomas (SEGAs). SEGAs typically grow in the brains of children and adolescents. Until the FDA approved Afinitor in 2010, the only treatment was removal of the tumors during brain surgery. SEGAs are present in between fifteen and twenty percent of all TSC cases.

Research into TSC has come a long way since the 1990s, when the genes that cause it were first identified. The information they learned was used to start producing drug therapies and treatment options. The clinical trials began in the first decade of the twenty-first century.

It might seem like it took the pharma company and the FDA a really long time to get Afinitor approved, but the steps in the process are there to keep us all safe.

Let’s hope there are more things in the pipeline for rare diseases. Read more about the FDA’s approval of Afinitor by clicking here.

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