According to a story from msn.com, two women who were impacted by the rare disease familial chylomicronemia syndrome (FCS) have lead the charge in changing the procedures used by the US Food and Drug Administration (FDA) to assess and review experimental drugs. The two women are Lindsey Sutton of California, who was diagnosed at just five weeks old, and Melissa Goetz, whose daughter is a patient.
About Familial Chylomicronemia Syndrome (FCS)
Familial chylomicronemia syndrome, which is also known as lipoprotein lipase deficiency, is a rare genetic disorder which is characterized by the inadequate production of lipoprotein lipase due to a defective gene. This results in very high levels of triglycerides. The signs and symptoms of the condition include fat deposits under the skin and stomach pain. Without intervention, the disorder can lead to liver problems and pancreatitis. This can also eventually cause the patient to develop diabetes. When the syndrome first appears, it often presents with failure to thrive and colicky pain. Treatment for familial chylomicronemia syndrome often involves a strict diet that is low in fat and simple carbs. Lipid lowering drugs can also be of some use. In the EU, there is a gene therapy available for patients who experience severe symptoms despite diet restrictions, but only one patient has ever used it. To learn more about familial chylomicronemia syndrome, click here.
Improving the Process
Lindsey and Melissa were part of an advisory committee to the FDA that was working to find a therapy for the syndrome. They were shocked when they realized that the medical experts on the committee didn’t actually have much experience treating the disorder, which seemed like a major flaw in the process. They soon realized that similar issues existed for other rare diseases also.
The HEART Act
The women have since gotten involved in writing a bill called the HEART Act, which would require the involvement of medical professionals with extensive experience and expertise in rare disease advisory committees as well as input from the broader patient community. There are several other provisions in the bill that would improve rare disease drug development, such as annual reporting on rare disease drug applications.
While the bill is still sitting in committee, it holds bipartisan support and could result in significant improvements for rare disease drug development if signed into law.