Leading up to Rare Disease Day 2013, Siren was pleased to write a series of articles for PharmaPhorum. We addressed key topics that are currently generating lots of discussion in the rare disorder community.
Is Rare Disease Pricing Sustainable? Doug Paul from Medical Marketing Economics provided an overview of the history of orphan drug pricing, why rare disease therapies cost so much and whether this model is sustainable to continue moving forward.
How Gene Therapy is Transforming Medicine. This is currently my favorite topic since reading the book, The Forever Fix, and with the first approval in the Western world of a gene therapy for sale, Glybera.
Please comment and let us know what you think about these topics.
Dr. Rondelli and team have seen promising results in their trial thus far
I first remember hearing about sickle cell anemia as a teenager. I knew the disease affected mostly African Americans and I knew there was no cure. I remember a high school classmate whose mother was afflicted with the disease and that she was, more often than not, in bed in a weak and debilitated state and in and out of the hospital for blood transfusions. I saw how this impacted my friend and her family. Mrs. Trice was the only person I can ever remember meeting with sickle cell anemia, but it wasn’t until I began working in this industry three years ago that I learned it was classified as a rare disease.
In the U.S., a disease is considered rare if it is believed to affect fewer than 200,000 Americans. Certain diseases with 200,000 or more affected individuals may be included in this list if certain subpopulations of people who have the disease are equal to the prevalence standard for rare diseases, according to the National Institutes of Health (NIH). Read More
Another compelling family story about a rare disease has captured the interest of filmmakers. The documentary, Life According to Sam, is about Sam Berns and recently premiered at the Sundance Film Festival. Sam has Hutchinson-Gilford Progeria Syndrome (progeria), a fatal genetic condition characterized by an appearance of accelerated aging in children. An ultra-rare disease, progeria only affects an estimated 250 patients worldwide at any given time. While Sam is 16, the average life span for children with progeria is 13 years old. Sam’s parents, Leslie B. Gordon, MD, PhD, and Scott D. Berns, MD, MPH, FAAP, are both physicians, so they were in an ideal position to work to find a treatment and cure.
Like many other rare disease parents, Drs. Berns and Gordon sprang into action when their son was diagnosed in 1998 and founded the Progeria Research Foundation. Since then, the gene causing progeria has been identified and the first-ever progeria clinical drug trial is taking place. Recently, positive results for the drug, lonafarnib, were reported. To learn more, read the blog Dr. Ricki Lewis wrote about Dr. Francis Collins and the history of progeria research.
In the video below, award-winning documentarians Sean and Andrea Fine preview the film, which has received excellent reviews. Look for it on HBO.
I’m going to make narcolepsy the best thing that ever happened to me
I’ve met Julie Flygare so I know she is a passionate advocate for people with narcolepsy, has a charming personality and is an engaging speaker. Last night I finished Julie’s book,Wide Awake and Dreaming: A Memoir of Narcolepsy, and learned that she is also an engrossing storyteller.
Julie starts the story as she enters law school as a high-achieving, athletic and social young woman. She details her weird symptoms—knees buckling during laughter, vivid nightmares and unusual sleepiness. As she struggles to concentrate on her studies and stay awake in classes, Julie chastises herself for a lack of self-discipline, never considering that might be a physical problem. Like many rare disease patients, she struggles before obtaining a diagnosis. After a few doctors dismiss her symptoms, the mystery is unraveled by a sports medicine physician she is seeing for tendonitis.
What is narcolepsy with cataplexy?
Before reading this book, I had only a vague and comic idea of narcolepsy as someone falling asleep in the middle of a conversation. In fact, narcolepsy is a neurological autoimmune sleep disorder in which the brain loses the ability to maintain normal sleep and wake states. Julie also has cataplexy, a sudden muscular weakness brought on by strong emotions. Narcolepsy affects about 200,000 Americans, making it just barely rare enough to qualify for the definition of a rare disease.
Jack Klugman touched the lives of millions of Americans through his support for what ultimately became the Orphan Drug Act
It’s not often that we posthumously learn something new and meaningful about a Hollywood star, but such was the case for me this week with the passing of actor Jack Klugman at the age of 90. Best known for his portrayal of Oscar Madison, the messy, unpretentious, cigar smoking, sportswriter roommate to Felix Ungar in the venerable 1970s sitcom The Odd Couple, Klugman was far less known for his contribution to rare disease awareness and advocacy.
Klugman’s foray into this important advocacy began in the 1980s when, using his Quincy, M.E. TV show as a bully pulpit, he and his brother Maurice Klugman, a Hollywood writer and producer, wrote a 1981 episode about the plight of a young man with Tourette syndrome. This show brought much needed attention to orphan drugs (medications that treat rare diseases) and rare conditions. Historically, drug companies ignored development of such drugs because they were unprofitable. Many diseases did not affect enough people to entice pharmaceutical companies to develop treatments. Read More
To explain and humanize the complex science, Dr. Lewis uses the compelling stories of patients and families with rare diseases and the researchers
“On a bright September day in 2008, 8-year-old Corey Haas went to the Philadelphia zoo with his parents, and screamed. Four days earlier he had gene therapy to cure his hereditary blindness, and now the sun was hurting his eyes.” Corey’s amazing story is featured in The Forever Fix: Gene Therapy and the Boy Who Saved It by Ricki Lewis, PhD.
Corey, who was legally blind, had undergone gene therapy at the Children’s Hospital of Philadelphia for a rare eye condition, Leber congenital amaurosis type 2. Corey underwent an experimental procedure in which viruses bearing healthy genes were injected into his left eye. Only a few days later, he was able to see out of this eye.
The book also tells the story of 18-year-old Jesse Gelsinger, who in September of 1999 had also traveled to Philadelphia to undergo gene therapy (for a rare condition, ornithine transcarbamylase deficiency, or OTC syndrome), but who died as a result. Because of Jesse’s death, the National Institutes of Health halted gene therapy trials. Over time, this led to improved protection for participants in gene therapy research.
An estimated 1 in 10 Americans has a rare disease, so almost everyone has a family member or friend with a rare disease. For me, it’s my college roommate’s sister, Dana, and her nephew, Alex, who both have Rett syndrome. Rett syndrome is a progressive neurodevelopmental disease that resembles a combination of epilepsy, cerebral palsy, autism and Parkinson’s disease. Alex’s case is even rarer because this disease is almost exclusively found in girls.
You can see their story in the video below and support the family at saferideforalex.org. October is Rett Syndrome Awareness month. This infographic explains more about the disease and the research that is currently in progress to find a cure.
Lori and Matt Sames are fighting for the life of their daughter, Hannah, who has the ultra rare disease, Giant Axonal Neuropathy (GAN). When Hannah was diagnosed in 2008 there was no GAN patient organization, so the family started Hannah’s Hope Fund. I’ve met Lori and Matt, and what they have accomplished is truly inspirational. The Sameses are one of the families featured in Siren’s book, Uncommon Challenge; Shared Journeys.
Now, a few years later, the Sameses are running a virtual biotech company from their kitchen table. Researchers have identified a gene replacement therapy and are ready to start clinical trials in nine children (including Hannah) at the University of North Carolina at Chapel Hill. The only thing stopping them is money. To fund the clinical trial will require $900,000 and Doris Buffett has offered a challenge grant of $450,000. The Sames family have until April 30, 2013 to raise the rest of the money. Learn more about their amazing efforts in the video below.
these patients and caregivers are very motivated to obtain an accurate diagnosis and the best treatment
PharmaPhorum asked Siren Interactive to write a series of blog posts about the world of rare diseases. In the six-part series, titled “Rare is different,” we’re showing how working within rare diseases is unlike other pharma markets, particularly in the knowledge and influence wielded by patients and caregivers.
I wrote the third post, “Patient and caregivers are key drivers of diagnosis and treatment in rare diseases.” As referenced in the last post, a typical physician might never encounter a patient with a rare disease over the course of his or her entire career. It’s understandable that most physicians develop expertise to do the greatest good for the largest number of patients. However, these patients and caregivers are very motivated to obtain an accurate diagnosis and the best treatment.
Earlier this year Siren Interactive published Uncommon Challenges; Shared Journeys. The book features 13 stories that provide a window into the lives of caregivers and patients battling rare diseases, revealing how each unique journey is, in fact, a shared journey. In my post I highlight a few excerpts from the book that show how these individuals came to a diagnosis and treatment plan. Let me know what you think in the comment section.
Momentum is building for additional funding for research to find effective treatments.
On Monday more than 4 million readers received the Washington Post supplement focused on rare diseases. In addition to updates on the latest progress in the industry, content included personal stories about a few of the all-too-many children afflicted with a rare disorder who are fighting for their lives.
Momentum is building for additional funding for research to find effective treatments. But currently, less than 10% of the 7,000 rare diseases have an FDA-approved treatment. There’s much to do and it can’t happen fast enough.
This campaign was designed to help raise awareness and advocate for treatment options for the nearly 30 million rare disease patients across the United States. Siren Interactive is pleased to have participated. As an industry professional, it’s gratifying for me to see this type of exposure and collaboration on behalf of rare diseases. And as a mother of a daughter with a rare disease, it’s also very inspirational.