Tag Archives: ultra-rare disease

Ultra-Rare Disease Challenges

Ultra-Rare Disease Research

Patients suffering from rare life-threatening diseases often have little hope of help from science and medicine after the failure of several initial treatments to effect any results.

The very definition of rare or ultra-rare varies from one in every thousand to one in every 200,000 people afflicted across medical literature and various regulatory agencies worldwide according to Wikipedia

The uncommon nature of a rare disease explains why many doctors may not be able to identify one before a patient succumbs to it. Estimates of more than 7,000 rare diseases worldwide present their own symptoms or combinations of them. Amidst the usual stream of patients with common ailments, it’s easy to understand how doctors may not recognize combinations of symptoms as indicators of one of the many serious and rapidly debilitating diseases.
Rare Disease Research Lab under constructionRare Disease Research Lab Under Construction

For all the diseases that are or have been identified, the FDA has approved fewer than 400 treatments. And, if a treatment or therapy is not FDA-approved to treat a specific disease, a doctor simply can not prescribe it. In other words, even if one drug is eventually approved to treat multiple diseases, a doctor can not prescribe it for anything but the already-approved use before testing and approvals are completed on the additional diseases.

High Cost of Bringing Drugs to Market

The Tufts Center for the Study of Drug Development published a study of the costs to bring a new drug to market in November 2014. They estimate the cost to exceed $2.5 billion.

That figure puts fear into the hearts of investors. The process spans multiple years, and several may pass before research and testing prove great efficacy or a lack of it. The costs of failures do not factor in to the Tufts study. Investors backing start up companies tackling rare diseases have to roll the proverbial dice and patiently wait for the process to unfold. Major pharmaceutical companies have to weigh stock market reaction to write-offs and charges associated with abandoned ineffective therapies. Can you imagine the internal competition for R&D funds for a drug that may have a patient base of millions per year and one that may have a patient population of one thousand?

How Many Patients Have Each Known Rare Disease?

For all the research into rare diseases, estimating the actual market for the drugs remains difficult. Rapidly progressing diseases kill patients before doctors can make accurate diagnoses. The actual prevalence in the world population for any one disease may be underestimated. On one hand, if incidence of one disease is underestimated, investors reap the benefits of additional product sales. If overestimated, a small company may not generate enough revenue to survive.

Rare Disease Drugs Reaching Patients In Time

Some of the known diseases kill the patient within days of diagnosis. Companies can not stock every retail drug store location with medicine for rare disease. A challenge exists on a global scale to shorten the time between diagnosis and drug delivery.

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What is a Rare Disease Company?

Rare Disease

Let’s answer the question of what a rare disease company is by first defining the term “rare disease.”

The Wikipedia definition of a rare disease is one that affects a small percentage of the population.  The Rare Disease Act of 2002 defines a rare disease to be one that affects fewer than 200,000 people in the United States, or approximately 1 in 1,500 people.  Similar definitions were made in Japan and the European Union.

Governments were driven to define rare diseases in order to craft policies and programs that would promote research and development of treatments.

Rare diseases are typically genetic by origin, so they are present throughout a person’s life. Symptoms can appear immediately after birth and usually become evident before adulthood, although some experience the onset of symptoms in early adulthood.  Another trait of rare diseases is that many are life-threatening. A chilling statistic is that approximately 30% of children with rare diseases die before their fifth birthday.

Rare Disease Company

Many pharmaceutical companies research and develop drugs and treatments for diseases that affect more people.  A larger potential consumer base implies greater sales.  Every company is in business to accomplish its primary mission and make money in the process to fund product manufacture, research and development, salaries, rent, etc.  Simple math shows that more sales revenue equals longevity, so several pharmaceutical companies compete with each other for effective treatments for diseases that affect millions of people annually.

A rare disease company focuses on treatments and therapies for rare diseases and therefore will not have the same volume of patients as larger pharma companies.  They must still fund research and development, testing, FDA and other global FDA-equivalent agency approvals, stringent manufacturing processes, etc, all of which are incredibly expensive. Since prices of treatments fund the company’s operations, it stands to reason that the per-unit cost of rare disease therapies is much higher, since far fewer patients are treated.

Another challenge facing a rare disease company is in marketing. The medical community-doctors, nurses, etc may not have heard of either the definition of a particular disease, or a treatment, if one exists. Many doctors learn of new treatments and therapies from sales reps that constantly travel from practice to practice, or at conferences.

There’ a lot of personal gratification and satisfaction to be had when working for a company that produces a medicine or treatment actually saving the lives of children or young adults, helping them live their lives as most “normal” people. This is true especially when the severity of the disease causes a great deal of pain and suffering before certain death.

The World’s Rare Disease Company dedicates itself to serving the smaller population of rare disease sufferers.

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