Gene and Cell Therapies: A Revolution for Rare Disease Treatments

As originally reported in Biobuzz, the story of rare disease treatment took a turn in the age of modern technology.  Rare diseases have traditionally been inaccessible to the naked eye, wrapped into our genetics and cells. New technologies have shown us the cells and genes that are at the base of our biological makeup, reforming our understanding about what a genetic disease really is. The next big step has been how to use the knowledge that has uncovered.
Finally, scientists and doctors are discovering an effective and financially efficient way to meet the needs of patients with rare diseases: cell and gene therapies. This is a miracle for these historically misunderstood and incurable diseases. As gene and cell therapies advance, life science and drug development companies see rare diseases therapies in a new light. Before it was deemed too costly for too few people. Rare disease drugs were considered unprofitable and thus not in the business plans. The giants in the drug creation industry such as Pfizer and Merck have traditionally focused on groundbreaking drugs for major health problems that reach a wide audience of patients and reap profits. However, technology tends to cheapen with time and recently this focus is no longer the total make up of their portfolios. They are changing the thought processes that go behind their decision making and are beginning to revalue investing in cures for rare diseases.

The Orphan Drug Act (ODA)

The 1983 Orphan Drug Act (ODA) got the ball rolling for rare diseases when the law provided incentives to target rare diseases including tax credits, regulatory approval acceleration, fee waivers, and a seven year period in which drugs in its scope have market exclusivity. Before this act, orphan drugs for lesser known diseases were virtually absent, with only 10 orphan drugs available. Today, the FDA has approved nearly 800 orphan drugs and there are 800 more still in clinical processes.

What is an Orphan Disease?

An orphan disease in the US is defined as one which affects fewer than 200,000 people. While each rare disease is few in numbers on its own, together ‘rare diseases’ ultimately effect around 10% of Americans and even more when including the many who go undiagnosed. This means that a tenth of Americans have diseases that are almost entirely unaddressed by drug companies with only 5% of them having treatment options. This is more than those who have cancer and HIV/AIDS combined; rare diseases include 7000 unique conditions, with a new condition discovered every other day. Many of these illnesses are dire, with half of rare disease patients never reaching their 10th birthday.

The New Technological Hope

While the issues of finding therapies for rare disorders still exist due to their tiny populations and complex solutions, the technology surrounding genetics has rapidly accelerated. This includes easier access to genetic testing, big data analysis, and gene and cell therapy technology.
New technologies pool information into shared databases, creating a library with an unprecedented depth. The precision and thoroughness of the information is crucial for rare diseases which often suffer from lack of connections between symptoms and populations. This makes creating solutions and treatments much more accessible for doctors and researchers, who benefit enormously from the precision of these new tools.

What is Gene Therapy?

Gene therapy is a cure or treatment option that involves tinkering with genes. Cell therapy uses foreign, live cells that are transferred into the sick patient as a cure or medication. This is novel if you think about the fact that we only discovered that genes exist a century ago. While it is expensive to create and provide, gene therapy is often a single treatment administration so the price tag isn’t as costly over time. 
The Orphan Drug Act already financially incentivized major drug companies towards such advancements and now that the technology is advancing so rapidl, these treatment options are more appealing for drug companies. They not only appear profitable in the future, but serve a huge population in sum and will reduce costs overall.

The Biohealth Capital Region Companies (BHCR)

The Capitol Area surrounding Washington D.C, has a whole host of drug development companies beginning to invest in rare diseases, called the Biohealth Capital Region Companies (BHCR). This group includes Viela Bio, American Gene Technologies, REGENXBIO, Asklepion Pharmaceuticals, Elixirgen Therapeutics Inc., and Cerecor. Each has different focuses on drug development investment, including the following:
  • Vielo Bio, Inc., Gaithersburg, Maryland
    • Vielo Bio is creating options to address severe inflammation and autoimmune diseases. Though they are unusually fronted with rare disease drugs, they have raised $350 million dollars from large investors since their conception in February 2018 and have big plans for more when they go public.
  • American Gene Technologies., Rockville, Maryland
    • American Gene Technologies uses cell and gene therapies to develop options for liver cancer, phenylketonuria (PKU), HIV, and genetic disorders. Their leading treatment candidate is aiming to cure HIV.
  • REGENXBIO, Rockville, Maryland
    • REGENXBIO uses gene therapy to develop treatments for retinal, neurodegenerative, and metabolic diseases. They are attempting work with adeno-associated viral vectors (AAV) which can be used for a wide range of diseases; they have the rights to 100 novel AAV vectors and 100 more in earlier stages, though only two have been approved to date.
  • Cerecor, Inc. (CERC), Rockville, Maryland
    • Cerecor, Inc. focuses on innovative solutions for orphan diseases, neurology, and ultra-rare pediatric diseases including through prescription medications, devices, and dietary supplements.
  • Asklepion Pharmaceuticals, Baltimore, Maryland
    • Asklepion Pharmaceuticals focuses exclusively on rare diseases, especially rare pediatric diseases that lack treatment options.
  • Elixirgen Therapeutics Inc., Baltimore, Maryland
    • Elixirgen Therapeutics, Inc., uses stem cells for diseases including rare blood disorders and chromosomal diseases.


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