Rare is different: innovation happens at the margins

Wendy White

Siren Interactive

(Continued from “Rare is different: rare disease patients and caregivers want pharma to participate”)

Due to the nature of the condition, a patient diagnosed with any one of the more than 7,000 rare diseases and disorders is part of a niche population on the margin of medicine. Their treatments establish the border — the edge of the latest medical advancements resulting from significant financial investment, targeted research and relentless patient advocacy. In this sixth and final blog post in the “Rare is different” series, we’ll take a look at how these elements converge to create innovation at the margins.

Pharma means business

By the time a therapy receives FDA approval, the pharmaceutical company will have spent several years and hundreds of millions of dollars developing the drug. Financial incentives from The Orphan Drug Act of 1983 have resulted in the development and commercialization of more than 350 orphan drugs to date. These perks include tax credits, selective grants and financial assistance that can reduce up to 50% of the cost of clinical trials for orphan drugs. A waiver is also granted for the customary prescription drug user fee associated with all drug marketing applications, which is typically more than $1 million per application.

In addition, the review process for FDA approval is expedited and provides flexibility on the quantity and quality of the evidence required. This fast-tracked approval process is critical for attracting potential venture capital investors who typically wouldn’t consider investing due to the standard protracted timeline associated with bringing a drug to market. Once approved, the orphan drug receives market exclusivity for seven years in the US and six to 10 years in the EU.

"By the time a therapy receives FDA approval, the pharmaceutical company will have spent several years and hundreds of millions of dollars developing the drug."

Several other factors also contribute to the current business climate being conducive to pharma investing in rare disease therapies. As patents expire on many blockbuster drugs, pharma is searching for new products to generate future revenue. “Me too” drugs fall flat as payers scrutinize new drugs more carefully and only reimburse for those that demonstrate a better value than what’s currently available. Conversely, therapies that target a smaller patient population and deliver the greatest benefit can justify a premium price.

Sharing the risks and rewards, some companies are forming synergistic partnerships for the development of orphan drugs. The intellectual capital of a small company may be the perfect complement to a large pharma company’s financial resources and marketing expertise.

The business case for investing in the development and commercialization of rare disorder therapies is more attractive now than ever before. And there are plenty of opportunities for pharma to evaluate since only about five percent of all rare diseases have an FDA-approved treatment.

An unexpected windfall

Therapies developed for rare diseases often have a positive impact on advancing established treatments for more mainstream diseases that affect larger numbers of the general population. While improving the quality of life for more patients, this also generates a much greater return on investment for the pharmaceutical company.

" ...therapies that target a smaller patient population and deliver the greatest benefit can justify a premium price."

“Everything we know about the human condition, we’ve learned from people with rare disorders. Someone is born missing an enzyme or factor, or some other problem, and we figure out how to solve it. We learn from this and move on.”

Dr. Timothy Coté

Chief Medical Officer, National Organization for Rare Disorders

Former Director, Office of Orphan Products Development,

U.S. Food and Drug Administration

Innovative medical research can produce benefits even before an approved therapy is developed for the condition. This is the case with Werner syndrome, a rare disease that accelerates aging. Although research has not yet resulted in an effective treatment for the disease, it has provided additional information that may lead to a better understanding of other age-related conditions such as cancer.

Today’s orphan drug could be the blockbuster drug of tomorrow. A dramatic example of this is Botox. The FDA-approved treatment for frown lines and chronic migraines resulted from a drug that was originally developed to treat blepharospasm, a rare disorder that causes uncontrolled blinking. The treatment developed for the chronic eye condition required patients to visit their physician at least two or three times per year for an extended period. When it became obvious that patients receiving subsequent treatments were looking younger, experimentation began to explain this effect. It eventually led to the development of Botox—the blockbuster drug currently generating annual sales exceeding $1.4 billion.

The power of patients

New rare diseases are discovered every year. Most are inherited and caused by genes mutations. Others are the result of environmental and toxic conditions. All that has been or will be achieved in the advancement of rare disease therapies started with an impassioned force of patient advocates focused on an urgent mission. Their collective voice pushes government, business and science to a common ground that provides the platform for innovation at the margins.

Creating hope and help

In 1984, Pat Furlong’s two young sons were diagnosed with Duchenne muscular dystrophy, the most common fatal genetic childhood disorder, which results in muscle degeneration, difficulty walking and breathing, and death. The doctor told her to “take them home and love them. They are going to die.”

Doing nothing was not an option for Pat. Fueled in part by the creative use of outrage, she has chosen to fight for advancements in the treatment for Duchenne to honor the memory of her two sons who lost their battle with the disease in their teenage years. She’s pushing for innovation at the margin so others may benefit from her hardship.

“I quickly learned that the ‘deal’ was up to me, and ‘cure’ is not a simple word targeted at a single life.”

Pat Furlong

Pat is founding president and CEO of Parent Project Muscular Dystrophy, the largest nonprofit organization in the US solely focused on Duchenne. She has established a global patient registry for the disease and has advocated for doing the same for other diseases.

By working tirelessly with patients, caregivers, researchers and government officials, Pat is a catalyst for progress in the fight against Duchenne muscular dystrophy. Over the past 16 years, much has been achieved to advance the diagnosis of the disease and lead to the discovery of a treatment therapy for Duchenne.

Pat shared her personal story as a contributing author of Uncommon Challenges, Shared Journeys—Stories of Love, Hope, and Community by Rare Disease Caregivers published by Siren Interactive. She talks more about her life’s work during a radio interview on NPR from March of 2011.

A young man with a big message

Twelve-year-old Seth Morris is an advocate for innovation in rare disease diagnosis. He’s living proof of the benefit of newborn screening. Diagnosed with Phenylketonuria (PKU) at 11 days old, his rare disorder is easily managed and he lives a healthy and active life.

Sadly, he also carries the burden of the lack of newborn screening for other diseases. Seth’s younger brother, Greyson, died six days shy of his first birthday from Krabbe disease—a rare, inherited degenerative disorder that breaks down the nerves’ protective myelin coating and destroys brain cells. Newborn screenings in Texas don’t include the test for Krabbe disease.

"...the funding was cut and newborn screenings for more than 20 additional disorders were never implemented."

Texas Governor Rick Perry signed House Bill 1795 in June of 2009 establishing Greyson’s Law to expand the number of diseases included in newborn screenings in Texas. However, the funding was cut and newborn screenings for more than 20 additional disorders were never implemented.

With a heartfelt story to share, Seth has become a spokesperson for this initiative to help others. He was recently in Washington DC to speak before the US Department of Health and Human Services Secretary's Advisory Committee on Heritable Disorders in Newborns and to encourage the addition of 23 diseases to the screening panel. A San Antonio television station provided coverage of Seth’s plight and his presentation to US government leaders.

Listen to Seth’s story by clicking on the “play” button below.

A rare approach for pharma

Throughout this six-part series of blog posts titled “Rare is different,” we’ve provided information and recommendations for pharma to consider when developing a strategic marketing approach for rare disorder therapies.

"Rare disease patients and caregivers want to work with pharma to ultimately find better treatment options and cures for rare diseases and disorders."

Rare disease patients and caregivers want to work with pharma to ultimately find better treatment options and cures for rare diseases and disorders. They want pharma to listen to their unmet needs, and to provide relevant content. It’s important for pharma to acknowledge that rare disease patients and caregivers help to educate physicians, and drive diagnosis and treatment. Pharma can provide more information and resources to help support physicians and patients, along with more research and support for patient advocacy.

In return, the rare disease community is eager to cooperate with pharma to help secure FDA approval of new treatments that are desperately needed. This, combined with government tax incentives, patent protection and favorable market conditions for the development of rare disease drugs, provides the opportunity for pharmaceutical companies to “do well while doing good.”

About the Author

Wendy White founded Siren Interactive in 1999. Under her direction, the agency has grown into the market leader for niche pharmaceutical relationship marketing, focused on providing value to patients, caregivers and healthcare professionals through relevant online content about therapies that treat chronic, rare disorders.

Wendy’s daughter, Casey, suffers from a rare genetic disorder, nail-patella syndrome. Wendy’s personal tribulations surrounding Casey’s disorder have influenced her to become a true advocate for her daughter and other children with rare diseases and disorders. Over the years she has expanded her relationship with other mothers and caregivers of children with rare disorders, as well as foundations, the medical community and the National Organization for Rare Disorders (NORD). Furthermore, she refocused Siren Interactive into a full-service relationship marketing agency for rare disorder therapies.

Recently, Wendy led the collaboration of 12 fellow rare disease caregivers to coauthor Uncommon Challenges, Shared Journeys: Stories of Love, Hope and Community by Rare Disease Caregivers. Wendy serves on the global board of the Healthcare Businesswomen’s Association (HBA) and is a board member of the National Organization for Rare Disorders (NORD), a Trustee of the Boys and Girls Club of the Union League Club of Chicago, and an Elder in the Presbyterian Church. She holds a Bachelor of Science in Quantitative Methods from the Indiana University College of Business.

For more information, email Wendy at wwhite@sireninteractive.com, or visit http://sireninteractive.com/.

How can pharma increase cooperation with the rare disease community?