Rare Diseases & Orphan Drugs

What Is a Rare Disease?

A rare disease is an illness that affects a small percentage of the population, thereby limiting scientific research, clinical expertise and patient access to effective treatment options.

In the United States, a rare disease is generally considered to be a disease that affects fewer than 200,000 Americans at any given time. Rare diseases are also sometimes called “orphan diseases”.

Some rare diseases have patient populations of fewer than one hundred. However, collectively, rare diseases affect as many as 25 million Americans, according to the National Institutes of Health (NIH). That makes rare diseases and finding treatments for them a serious public health concern for the country.

Cause of Rare Diseases

Although the exact cause of many rare diseases is unknown, most are inherited and caused by genetic changes or defects (mutations).

These diseases are referred to as “genetic” diseases and can be passed from one generation to the next. Other rare diseases may be caused by infections, allergies or environmental factors such as diet, smoking and exposure to toxins.

Challenges for Patients with Rare Diseases

For one-third of patients with a rare disease, receiving an accurate diagnosis takes between one and five years.

Patients often have to travel long distances to consult the few doctors who are knowledgeable about their condition. As a result, the costs involved in diagnosis and treatment can be exorbitant, placing them out of reach of a large number of patients.

Support for Patients with Rare Diseases

Patient support groups

Most patients diagnosed with a rare disease will never know anyone else with the same disease, meaning that they and their families are left to cope alone. This isolation, combined with the lack of information about rare diseases, makes living with a rare illness or condition even more stressful.

Fortunately, in recent years, the internet has allowed the proliferation of web-based support groups. These online groups enable patients with rare diseases to connect with others around the world with similar conditions. Not only does this provide much-needed emotional support, it also allows patients to share information and learn from each other's experiences.

Patient advocacy groups

Over the last two decades, patient advocacy groups such as the National Organization for Rare Disorders (NORD) have worked aggressively to draw attention to rare diseases and the lack of treatment options. NORD works to promote legislation, such as the Orphan Drug Act (ODA), that encourages research and development into often life-saving treatment options, and to provide easier access to such treatments.

The Orphan Drug Act (ODA) 1983

Under the ODA, Congress introduced tax incentives and enhanced patent protection, marketing rights and clinical research subsidies. It also created a government-run research and development enterprise.

Before the ODA was enacted, only 38 drugs to treat orphan diseases were approved in the U.S1. However, from 1983 to 2015, the FDA approved 552 orphan drugs and granted orphan designations to 3,633 compounds.

As of 2010, 200 of the roughly 7,000 officially designated orphan diseases have become treatable2.

Clearly, much work remains to be done to provide Americans with rare diseases with affordable access to the orphan drugs they need, a critical mission to which Medunik USA remains firmly committed.

Additional information about rare diseases is available on the following links:

  • Rich Daly, (5 September 2002). "House Offers Incentives For Development of 'Orphan' Drugs". Congressional Quarterly Daily Monitor.
  • Armstrong, Walter (May 2010). "Pharma's Orphans". Pharmaceutical Executive).

What Is an Orphan Drug?

Orphan drugs are medications or other medicinal products used to treat rare diseases or disorders. They are called “orphan drugs” because due to their limited market, few pharmaceutical companies pursue research into such products. Selling to only a small group of patients, drug manufacturers would be unlikely to recover development and marketing costs, let alone make a profit by producing the product.

Although the Orphan Drug Act of 1983 introduced incentives for drug companies to develop treatments for rare diseases, today, it remains that no treatments exist for the vast majority of rare diseases.

Orphan Drugs: A Global Crusade

Abbey S. Meyers wrote this memoir to document the issues that led to the enactment of the “Orphan Drug Act of 1983” and the extraordinary scientific and industrial progress that ensued, including the development of Orphan Drug legislation in other industrialized countries around the world.

Book cover - Orphan Drugs: A Global Crusade
Abbey S. Meyer, author of Orphan Drugs: A Global Crusade

About the Author

Ms. Meyers is the founder and Past-President of the National Organization for Rare Disorders (NORD), a coalition of national volunteer health agencies and a clearinghouse for information about little-known illnesses. Ms. Meyers currently holds the honorary title of President Emeritus of NORD. She also served as Honorary President of the European Organization for Rare Disorders (EURORDIS) before retiring from role as a leader of the rare disease consumer movement in 2009.

During her professional career in the United States, Ms. Meyers served as Consumer Representative on the National Commission on Orphan Diseases (1986-89), the NIH Human Gene Therapy Subcommittee (1989-92), the NIH Recombinant DNA Advisory Committee (RAC) (1993-96), the FDA Biological Response Modifiers Committee (1995-99) and the HHS National Human Research Protections Advisory Committee (2000-2002).

Ms. Meyers is the recipient of the FDA Commissioner's Special Citation for Exceptional Dedication and Achievements on Behalf of All People Afflicted with Rare Disorders (1988) and the Department of Health and Human Services Public Health Service Award for Exceptional Achievements in Orphan Drug Development (1985). She holds an honorary doctorate from Alfred University in New York and is considered to be the primary American consumer advocate responsible for the passage of the Orphan Drug Act of 1983.

Throughout her career, Ms. Meyers has sat on numerous committees, boards and commissions dealing with orphan diseases at the national and international levels.

She is the author of many articles and papers related to this topic and has been a frequent speaker at conferences across North America, Europe and Asia.

For more information about her work, please visit abbeysmeyers.com.