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Renaissance in new drugs for rare diseases: Report in world's largest scientific socity magazine
Date:5/13/2013

n ever before, thanks to progress in genomics and other areas of biomedical science. About 20 years ago, scientists had teased out the molecular basis for fewer than 50 rare diseases. Today, they know the genetic underpinnings for roughly 4,500 it's a complete sea change, which could show scientists the path to develop many more treatments.

On the regulatory side, the Orphan Drug Act of 1983 fostered drug development for rare diseases by granting companies seven years of exclusivity, even when the patent runs out; a waiver for U.S. Food and Drug Administration (FDA) fees; and tax credits. The incentives have worked the number of treatments for these diseases has risen from 10 to over 400 since the Act was created. And just last year, the passage of the FDA Safety Innovation Act made it easier to get them through clinical trials an expensive and challenging hurdle.

Patient advocacy groups, often led by patients themselves or relatives or friends of patients, also are driving the shift. They aren't just attending fundraisers they're taking charge, organizing events and even establishing their own charitable foundations or companies, funding researchers directly. They're telling their stories on social media, lobbying Congress and talking to the media.

To learn more about rare diseases and their impact, Jarvis spent time with patients and their families. She reports about how Jason and Justin Leider, aged 6 and 4, get their "muscle juice," or Elaprase medication, in an IV line in their chests to treat Hunter syndrome. Both children have the rare disease, which affects only boys. Patients lack an important enzyme that breaks down sugars. It is one of the so-called mucopolysaccharidosis (MPS) diseases. Without that enzyme, sugars accumulate in cells across the body, causing a rapid physical and mental decline. Most boys with Hunter syndrome die by age 15.Their parents, Jeff and Deena Leider, founded "Let Them Be Little x2" to raise awarene
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Contact: Michael Bernstein
m_bernstein@acs.org
202-872-6042
American Chemical Society
Source:Eurekalert

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