Research on the rare disease community is, well, rare. So it was with anticipation that I reviewed Shire’s “Rare Disease Impact Report: Insights from patients and the medical community.” The results provide additional data that support Siren’s six rare disease insights. The report can be downloaded and I advise reading it for all the details, but here are the key findings.
The first finding is around the diagnosis and treatment of orphan conditions. According to the patients surveyed, it took an average of 7.6 years in the US and an average of 5.6 years in the UK to receive an accurate diagnosis. This process typically included 2 to 3 misdiagnoses. This long journey to diagnosis can have a significant physical, emotional and financial toll on patients. Read More
Langerhans cell histiocytosis advocate Ian Brown and his mother at the NORD Gala
Megan Barron is a Duke University senior and advocate for dystrophic epidermolysis bullosa
I had the privilege of attending the National Organization for Rare Disorders (NORD) Gala on Tuesday evening. I say “privilege” for a number of reasons. First, I was invited as a guest of our client, Lundbeck, and had the opportunity to meet patients and advocates from the Huntington’s Disease Society of America and the Tuberous Sclerosis Alliance. Second, the event celebrated the 30th anniversary of the passage of the Orphan Drug Act and the founding of NORD. Abbey Meyers, who led both of these efforts, was honored, as well as the policymakers William Corr, Senator Nancy Kassebaum and Representative Henry Waxman.
The Orphan Drug Act has successfully stimulated interest in rare disease therapies. In the decade before 1983, only 10 new products for rare diseases had been developed by the pharmaceutical industry. Since then, there have been more than 400 orphan therapies and hundreds more are in the pipeline, according to NORD. Aegerion, NPS Pharmaceuticals, Onyx Pharmaceuticals and Sigma-Tau Pharmaceuticals were celebrated for their innovative therapies. Read More
At its simplest, gene therapy consists of transplanting normal or working genes to replace missing or defective genes in order to correct genetic disorders. The difficulty is getting the working genes into the body and to the place where they are needed without causing unintended side effects. Viruses are currently used. Dr. Lewis gave the analogy of Federal Express: viruses are delivery systems for genes.
Commercially approved gene therapy
In November 2012, for the first time in the Western world, a gene therapy was approved for sale. The European Commission approved alipogene tiparvovec (Glybera®) to treat adult patients with the rare genetic disorder familial lipoprotein lipase deficiency. It is expected to be approved soon in the US. Read More
Similar to many other rare disease caregivers, Natalie’s parents, Nancy and Geoffrey, took action
I like to say rare diseases are different. One key way is that, for orphan conditions, it’s often the patients who are driving and funding the research. A great example of this was highlighted in yesterday’s New York Times.
Natalie Stack has nephropathic cystinosis which, if left untreated, slowly destroys the organs in the body including the kidneys, liver, eyes, muscles and the brain. Thus it’s fatal by the first decade of life. Nephropathic cystinosis is estimated to impact 2,000 patients worldwide, including 500 in the U.S. and 800 in Europe.
Activated by a rare disease diagnosis
Similar to many other rare disease caregivers, Natalie’s parents, Nancy and Geoffrey, took action and started the Cystinosis Research Foundation. Their mission is “to support bench and clinical research that is focused on developing improved treatments and a cure for cystinosis.” The organization funded the research that led to Raptor Pharmaceutical Corporation’s approval yesterday of the therapy Procysbi. This story echoes others, including the evolution of the cystic fibrosis drug Kalydeco.
The article also mentions the increasing numbers of orphan drugs, which is a wonderful advancement, but it is putting an increased financial burden on insurance companies and governments. To learn more, read Doug Paul’s informative article, Is Rare Disease Pricing Sustainable?
Do you have any rare disease stories like this to share?
an easy-to-use and on-the-go tool to locate clinical trials and clinics
I have been privileged to know Pat Furlong for the past several years and work alongside her on the board of the National Organization for Rare Disorders (NORD). In 1984, doctors diagnosed her two sons, Christopher and Patrick, with Duchenne Muscular Dystrophy (Duchenne), a fatal genetic disorder that slowly robs young men of their muscle strength. Pat didn’t accept the doctor’s advice that “there’s no hope and little help.” Instead, she immersed herself in Duchenne, working to understand the pathology of the disorder, the extent of research investment, and the mechanisms for optimal care. Her sons lost their battle with Duchenne in their teenage years, but she continues to fight—in their honor and for all families affected by Duchenne.
In 1994, Pat, together with other parents of young men with Duchenne, founded Parent Project Muscular Dystrophy (PPMD) to change the course of Duchenne and, ultimately, to find a cure. PPMD is the largest non-profit organization in the United States solely focused on Duchenne. Today, Pat continues to lead the organization and is considered one of the foremost authorities on Duchenne in the world. Read More
A key theme of the World Orphan Drug Congress 2013 was the need to innovate when it comes to the rare disease space. Presenters shared how rare diseases necessitate a different approach ranging from clinical trials to working with patients and the US Food and Drug Administration.
Claudia Hirawat, President of PTC Therapeutics, described some of the challenges of working on orphan conditions including the fact that the natural course of the disease is often not well documented and there may be limited standardization in diagnosis and treatment. Dr. John Orloff, Chief Medical Officer at Novartis, concurred “In many cases we’re finding that in order to move forward we have to do natural history studies to understand the trajectory of disease.”
Chris Garabedian, CEO of Sarepta Therapeutics, stressed the importance of innovative drug development and innovative regulatory science for boys with Duchenne Muscular Dystrophy who have no approved treatment. The Rare Disease Report provides a summary of his presentation and a few others. Read More
I attended the World Orphan Drug Congress last week in Washington, DC, and Siren presented the workshop, “A Roadmap for Patient Advocacy Investment.” In the rare disease space, patient engagement is critical to every step of a drug’s development, including: filling clinical trials, getting FDA approval, obtaining reimbursement, getting patients diagnosed and promoting adherence.
Wendy White moderated with presentations from Jamie Ring of Genzyme, a Sanofi Company and Diane Goetz of PTC Therapeutics. Pat Furlong of Project Muscular Dystrophy and Lori Sames of Hannah’s Hope Fund provided the patient advocacy perspective. The event was overflowing with attendees–a mix of representatives from biopharmaceutical companies and advocacy organizations. Liz Donohue from Coordination of Rare Diseases at Sanford (CoRDS) shared her takeaways.
Megan O’Boyle from the Phelan-McDermid Syndrome talked about her highlights.
Lori’s recommendation to other patient advocates on how to work with pharma.
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.
Last week I had a fascinating phone conversation with rare disease advocate, Ed Fennell. Full of energy, he is helping to care for 2 young granddaughters – each with a rare disorder.
Hayley, who is now 6 years old, had her first seizure at 6 weeks old. It took 2 years for the family to get a diagnosis of CDKL5 Atypical Rett Syndrome. Hayley has very few physical illnesses, but has severe developmental delays. Fennell is hopeful that she will be able to communicate 1 day using eye gaze technology.
Two-year-old Emily lost 98% of her small intestine and has Short Bowel Syndrome. She has a permanent IV line, parenteral feeding and ileostomy bag. Emily is thriving, but they are constantly on guard for infection.
Fennell is mostly retired after a 35-year career running a private consulting business on labor issues. He now spends his days helping to care for his 2 granddaughters. When Hayley started school last year, Fennell found himself with time on his hands. Instead of relaxing, he decided to take action. He wrote a letter to the local teaching hospital, Albany Medical Center, that described the importance of rare disorders and that the hospital should get involved. “I described how rare disease families wait too long for a diagnosis, don’t know where to go for care and need to be handled with greater efficiency,” said Fennell. He proposed engaging the rare disease community with the hospital and holding an event on Rare Disease Day. Read More
Dr. Katz said that using social media for real time adverse event reporting, patients supporting each other and helping with trial adherence were all positives
I was fortunate to be invited to speak at the American Society for Experimental NeuroTherapeutics (ASENT) annual meeting on February 28, 2013 in Bethedsa, MD. What’s unique about this nonprofit organization is that it consists of representatives from the key stakeholder areas: healthcare, academia, biopharma, patient advocacy and government. At their event I met physicians, nurses, patients, advocacy leaders, brand managers and FDA officials.
I presented as part of an afternoon discussion on the “Use of the Internet and Social Media to Conduct Clinical Trials” with Russell Katz, MD, U.S. Food and Drug Administration (FDA); Joseph Kim, Shire Pharmaceuticals; Craig Lipset, Pfizer; Joanna Napp, HealthTronics; Lori Sames, Hannah’s Hope Fund; and Nancy Santilli, HealthTronics.
Dr. Katz, director of the Division of Neurology Products in the FDA’s Center for Drug Evaluation and Research, started off by admitting that not only was he not an expert in social media, but he doesn’t even have a smart phone! He’d asked around to see if anyone at the FDA was investigating the use of social media specifically for clinical trials and did not find anyone. Dr. Katz noted that the overarching idea is that the existing advertising rules apply, but it’s not yet clear how. He said, “The agency is working on it.” He mentioned that the FDA is working on an app to accept MedWatch reports via phone. Read More