Rare diseases don't feel so rare to me
By: Cynthia Jackson, DO | February 28, 2017
Advancing rare disease clinical research, one patient at a time.
As we recognize the 10th Rare Disease Day, I find myself reflecting on where we were a year ago and hoping that some progress has been made in terms of treatment options and the availability of and processes for clinical trials.
Let’s first review the numbers. As of today, the US National Institutes of Health lists 7,000 disorders or conditions defined as rare (less than 200,000 affected individuals in the US). Information from the National Organization for Rare Disorders (NORD) states that there are more Americans (30 million) living with a rare disease than all of those living with HIV, heart disease or stroke combined. EURORDIS, an organization that represents 738 patient organizations in the European Union, estimates that 30 million citizens in those countries suffer from a rare disease.
With these numbers, it does not surprise me that my family, close friends, acquaintances and colleagues have all been impacted by rare diseases. In some cases there were approved treatments that allowed a young life to be prolonged, in another case clinical trials are commencing, and in another case, the diagnosis remains elusive but there is hope that it will be forthcoming and treatment will be available.
The fact remains that treatment options are lacking for the majority of rare disease patients. As of now, the estimate is that only around five percent of rare disorders have a treatment available. Great strides have been made in past several years. We have enzyme replacement therapies for patients with inherited metabolic disorders, disease modifying therapies for rare respiratory and neurologic disorders, and most recently, a therapy for infants with spinal muscular atrophy. All of this good news for sure, but there is clearly much more work to be done.
I find myself wondering what is it that I could do to help move the field of rare disease clinical research forward. I am not a bench scientist, nor am I a venture capitalist or business person, so discovery and funding are outside my area of expertise. However, I do have some knowledge of clinical development strategy, understanding of medical practice, a long-standing involvement in clinical research, and a personal and professional interest in advancing rare disease clinical research. The biggest advantage I have is being associated with a talented group of professionals at QuintilesIMS who are experts in clinical research delivery and are available to assist in moving this field forward. These are some of the issues surrounding rare disease clinical research we feel we can impact positively:
This list is far from exhaustive but the gratification is that we are learning more every day about how we can assist the scientific and medical communities in developing more treatments for more patients with these rare disorders. Thirty million Americans, and 30 million Europeans diagnosed with one of these 7,000 diseases may be labeled “rare”, but they do not seem a bit rare to me.