Tag Archives: rare

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This article was originally was posted at http://www.medscape.com/viewarticle/840206

The National Organization for Rare Disorders
The Importance of Rare Disease Education
Sophia A. Walker

February 25, 2015

Recently a wise professor told my class that we medical professionals are some of the most powerful people in the world. Indeed, we have the ability to meet people at their most vulnerable, sometimes on the very worst day of their lives, and help them. “This profession,” he told us, “is such a privilege that we must never miss the opportunity to have at least done some good for every patient.” Over the past several weeks, as I have planned rare disease awareness events and begun preparing to enter the clinical years of my medical education, I find myself considering these words more frequently. However, at the end of the day, I wonder how powerful we are, really…

My interest in rare diseases originated during my senior year of high school, when I first started volunteering at the National Organization for Rare Disorders, Inc. (NORD). I was overwhelmed to discover the many obstacles experienced by patients who have rare diseases. On a technical level, any disease that affects fewer than 200,000 Americans is considered rare. Of the more than 7000 rare diseases, only approximately 350 have treatments that are approved by the US Food and Drug Administration (FDA). I found that individuals with these diseases, almost two thirds of whom are children, show great courage and perseverance in the face of significant discouragement. Although I had always wanted to be a doctor, it was not until I witnessed such unrelenting determination to overcome barriers in healthcare that I discovered my own enthusiasm for medicine.

All physicians strive to provide attentive medical care with the utmost compassion and empathy; however, as medical professionals, we must also be our patients’ most vocal advocates. Although I was not yet a physician, I still wanted to contribute to this effort. I wanted to provide a forum for the nearly 30 million Americans with rare diseases whose voices often go unheard in the medical community, and I wanted to share this passion with my peers. Every year, my fellow students and I host a Rare Diseases Awareness Event. Patients, students, clinicians, and researchers come together to share their experiences and insights regarding rare diseases. We strive to shed light on the lives of these individuals by allowing them to share their own stories, sometimes for the very first time.

Although many students may assume that we do not need to know as much about rare diseases because we are unlikely to encounter them in our practice, this is simply not the case. In fact, every one of us preparing for medical careers will see patients with rare diseases, and the extent to which we prepare ourselves for this reality will determine the impact we can have on these patients’ lives. Patients who have a rare disease face difficulty in every step of medical care, including diagnosis, treatment, and preserving quality of life. Sometimes, patients go years without receiving the correct diagnosis for their condition. Once they finally have an answer, often no treatment is available for their condition. As future physicians, we must aim to improve these prospects; the first step in doing so involves developing a keen understanding of this patient population.

The opportunities for medical students to learn about rare diseases are vast. Gaining a basic understanding of how the experience of having a rare disease is different from having a more common disease is equally essential. The National Institutes of Health (NIH) has great information related to rare diseases on its website, and the NORD website provides overviews and links to more than 200 patient organizations that provide excellent information about specific rare diseases. Students can also apply for a free NORD student membership by writing to bhollister@rarediseases.org. Once you register, you receive a monthly eNews and quarterly newsletter specifically designed for students planning healthcare careers. If you’re attending the American Medical Student Association annual convention in Washington, DC, on February 27 and 28, come to the NORD booth in the exhibit hall where patients with rare diseases will be sharing their stories.

With each speaker I listen to at a rare diseases event, with each new person I meet, I am filled once again with immense pride that our efforts, if even in a small way, have done some good. Unlike many people who are involved in advocacy efforts in this area, when I began this work, I did not have a personal connection to rare diseases. However, after years of getting to know people who have experienced these struggles, I can say that I now have several. In fact, it is the memory of the individuals I have met and the satisfaction in having contributed to raising awareness that has guided my interests, served as an influence in many decisions, and ultimately has been the driving motivation in achieving my aspirations. With every step I take moving forward in my career, rare diseases comes along with me and will continue to do so.

My passion for rare diseases advocacy has become perhaps the foremost aspect that defines me and has made me who I am. It has given me direction, has made me a leader, and continually prepares me to become one of those physicians who will do some good. A couple of years ago, one of my undergraduate professors asked me, “Are you that rare diseases girl?” He went on to say that a student who had been inspired to research rare diseases after attending my event had approached him with an interest in working in his lab. This is the reason why I raise awareness for rare diseases. If just one more person every year becomes inspired, that may eventually make all the difference in the world. It turns out that, in the end, we are all powerful together. After all, according to the NORD motto: “Alone we are rare. Together we are strong.”®

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664715_11160870-pillRare diseases, including several autoimmune disorders, are getting more attention from drug-makers, according to a new report by the Pharmaceutical Research and Manufacturers of America (PhRMA), a consortium of 36 US-based pharmaceutical and biotechnology companies. In 2012 alone, 13 drugs for orphan diseases (“orphan drugs”) were approved by the Food and Drug Administration (FDA). Approximately 452 medicines and vaccines are in development for the nearly 7,000 orphan diseases worldwide.

orphan diseases are defined as diseases with fewer than 200,000 patients. In total, however, across the nearly 7,000 orphan diseases, 30 million people in the US, or about 10% of the population, are affected by an orphan disease. The pemphigus and pemphigoid (P/P) diseases are considered “ultra-orphan” diseases because they are extremely rare. It is estimated there are only about 50,000 new P/P cases each year worldwide, with only a few thousand of those being in the US.

Rare diseases tend to be more complex than common diseases, meaning that there are a number of factors that combine to cause disease. In the case of P/P, while there seem to be genetic risk factors, how these contribute, singularly or in combination, and to what extent the environment (like diet and other conditions that are present) also contributes is not well understood.

Somewhat fortuitously, complex diseases represent the next great frontier for drug developers. Having tapped into the ‘simpler’ diseases, making great strides in treatment of conditions like high cholesterol, these ‘low-hanging fruit’, as drug-makers like to call them, have been consumed. It is truly a time of paradigm-shifting mentality among drug makers.

That said, the costs of developing new medicines is extremely high, so companies must make their choices wisely. If we were to calculate the amount that pharmaceutical and biotechnology companies spend on research and development yearly and compare that to the number of drugs that are approved for clinical use by the FDA each year, the cost per successful drug is a staggering $1.2 billion. It’s not difficult to imagine, then, why companies aimed at developing new drugs are most interested in those that can recoup these huge costs — for instance, by developing drugs for very common conditions and risk factors such as diabetes and high cholesterol. As well, given the complex nature of rare diseases, they are not necessarily among the ‘low-hanging fruit’ that some diseases represent.

To incentivize companies to prioritize new drugs for rare conditions, they may apply for orphan drug status through the FDA, a result of passage of the Orphan Drug Act (ODA) of 1983. With this status, a drug receives seven years of market exclusivity. Market exclusivity is particularly appealing to companies developing drugs because the seven-year exclusivity period differs from laws applicable to other drugs in that it does not begin until the drug is approved by the FDA approval.

The ODA is considered a resounding success. Since its inception, there have been more than 400 medicines approved for a total of 447 orphan diseases. As well, there are hundreds of new medicines in development, including an impressive list available in the PhRMA 2013 report (phrma.org/sites/default/files/pdf/Rare_Diseases_2013.pdf).

While not all of the 452 orphan drugs in development will be approved for patient use, this is certainly a lot of activity. A search of the list included within the PhRMA report, as well as a search of clinicaltrials.gov (that lists all clinical trials in progress), shows a handful of drugs in testing for conditions related to or directed at P/P.

There are 18 new orphan drugs in phase I-III trials (there are three phases of clinical trials and drugs must pass all of them, indicating reasonable levels of safety and meaningful efficacy-effectiveness in treating the condition) that are indicated for autoimmune disorders.

New drugs are not the only source of treatment for disease. Another source is to use an existing drug, developed for another condition, for a different indication. Such is the case with Rituxan® (rituximab), which was originally developed for Non-Hodgkin’s lymphoma. In that disease, B cells of the immune system bearing a marker called CD20 (thus the name CD20+ B cells) have gone awry.

Since P/P shares this hallmark, Rituxan® has been successfully used ‘off-label’ for P/P. It is an antibody-based drug, which requires it to be injected into the patient. In general, any drug that acts as a suppressor of the immune system (immunosuppressant) is a potential candidate for treating a range of auto-immune conditions, including P/P. CellCept® (mycophenolate mofetil), another immune system suppressor that was developed for transplant patients to help prevent the body’s rejection of the ‘foreign’ organ, has recently been approved for use in P/P.

Besides the high cost of developing new drugs, companies that seek treatments for orphan diseases face difficulty in finding enough patients to participate. Indeed, patients tend to be dispersed geographically and may include small children. Physicians and patients who are interested in participating in trials or gaining more information should visit clinicaltrials.org.

Within the P/P community, the IPPF is also a great resource for learning about clinical trials. Members of our medical advisory board serve as investigators on trials and being in our patient database could lead to a company reaching out to you about participating in a trial.

For instance, among the new drugs aimed at treating P/P, drug-maker Novartis is studying VAY736, an antibody-based drug aimed at another B cell marker called BAFF-R. The study is in a very early stage and should be recruiting patients soon.

The time is ripe for development of new drugs for complex orphan diseases. The surge in new medicines in the first 30 years since the ODA should accelerate as less ‘low-hanging fruit’ exist for companies developing new drugs.