Challenges Abound as Researchers Search for Rare Disease Treatments

March 14, 2013

Doctors may go years without seeing a rare disease — also known as an orphan disease — but they affect 30 million Americans.

There are about 7,000 diverse diseases classified as rare in America alone, which according to the United States Government, means that less than 200,000 individuals have this particular disorder at one given time. On Feb. 28, advocates are putting the spotlight on rare diseases during Rare Disease Day and promoting the message of “Rare Disorders without Borders,” to aid in the international effort to work together to battle these conditions.

The U.S. currently has more than 420 medications approved to treat various rare diseases. While legislation has provided incentives to encourage pharmaceutical companies and sponsors to research rare diseases, much stands in the way of finding cures for these illnesses.

“There’s an aggressive push over rare disease research, and researchers have much more tools in their toolbox,” Michael Kelly, the chief scientific officer of Cure Duchenne, said to Kelly was a former pharmaceutical executive who served as president and U.S. site head for Renovis, Inc. and held senior positions at Amgen, Wyeth (Pfizer) and Wellcome (GlaxoSmithKline).

“We’ve also seen both large pharmaceuticals and small get interested. The pharmaceutical industry has changed in the last few years, and orphan diseases have become an important part of their portfolio,” he added.

There’s more at stake than saving these patients: looking into these uncommon diseases has already been shown to create a pathway for treating and curing some of our most prevalent ailments.

For example, Nobel Prize-winning research about a rare, genetic condition has lead to groundbreaking information about how to fight high cholesterol. Michael Brown and Joseph Goldstein were researching familial hypercholesterolemia — an inherited condition that causes high levels of low density lipoprotein (LDL) cholesterol from birth — when they won the Nobel Prize in Physiology or Medicine in 1985. They discovered that 20 percent of all heart attack survivors had one of three single gene-determined types of inherited high cholesterol disease, and one heterozygous form of familial hypercholesterolemia (meaning only one of the inherited genes was mutated) was found in one out of every 25 heart attack victims.

Through their research, they were able to discover a pathway of how cholesterol is absorbed in the cells, providing invaluable information for anyone who is battling high cholesterol, Dr. William Gahl, clinical director of the National Human Genome Research Institute (NHGIRI) and director of the National Institutes of Health’s Undiagnosed Disease Program, told

Motivating research

Today, about 20 medications are approved to treat rare diseases annually, and about one-third of brand new drugs the agency approves are for these uncommon conditions, Anne Pariser, associate director for rare diseases at the Food and Drug Administration, told Last year, 13 brand new drugs were approved for 14 different indications and an additional 12 existing medications were approved to treat various rare diseases.

The U.S. recognized the potential rare disease research could have on other illnesses, and Congress approved the Orphan Drug Act in 1983. The legislation states that if an organization can prove through animal models and clinical data that a particular drug is promising for a specific rare disease, it can receive tax credits toward future clinical trials. This includes the ability to write-off some of the research and development (RND) costs. It also includes a waiver for fees associated with submitting a medication to the FDA for marketing approval, which can average $1.9 million per drug.

More at CBS News.

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