Rare Diseases and the Challenges in Assessing Treatments and Clinical Research


In this article, we will be looking at the definition of a rare disease, the challenges in developing treatments, and the positive impact the Orphan Drug Act of 1983 and technology has had on this research.

A rare disease, also called an orphan disease, is any disease that affects a small percentage of the population. For instance, a disease that impacts one, or less than one, in 3000 people or 6% of the entire population of a continent fits this definition. Approximately 80% of these diseases are genetic in nature and stay with the person throughout their life, though the symptoms might not be noticed immediately. The remaining percentage can be caused by infections, allergies, environmental issues, etc.

Rare diseases are life threatening, chronic, degenerative and progressive in nature. About 75% of the affected persons are children, and most of them die between the ages of 0 to 5 years. These diseases cause disabilities and disorders in patients. This also negatively impacts family members and caregivers.

Rare diseases are treated with Orphan Drugs. Developing these drugs is challenging due to the complex nature and diagnosis of the diseases. Also, the small population of affected individuals makes it difficult for researchers to get sufficient subjects for clinical trials. Hence, it is often time-consuming and expensive to produce effective and efficient drugs for the treatment.

Despite the obstacles, the Orphan Drug Act of 1983 has helped provide incentives. This includes fee waivers and the fast tracking of FDA reviews to expedite the review process. The Act has encouraged Biopharmaceutical research for the past ten years. Along with the advancement of technology, hundreds of orphan drugs have been developed and approved by the U.S. Food and Drug Administration (FDA).

Some of these drugs are for the treatment of rare diseases including rare cancers, genetic disorders like cystic fibrosis, spinal muscular atrophy, and amyotrophic lateral sclerosis. This has also led to the development of drugs for seizures, bacterial infections, hepatitis, systemic sclerosis, and juvenile arthritis.

Despite influx of researchers working on the development of orphan drugs as a result of cost reduction, there are still enormous hurdles in the research. Researchers are still faced with the difficulty of understanding the complex nature and causes of these diseases. The patients that volunteer for these trials are often in weakened states, coupled with the emotional and financial stress caused by dealing with these diseases. Furthermore, the need for multiple specialists makes these trials difficult for everyone involved.

Despite these challenges, researchers and patients are better informed of the developments of new drugs and alternative treatments due to the availability of information via the internet. As a result, the research process has been noticeably expedited and more awareness has been brought to rare diseases, bringing researchers closer to a more optimal treatment.


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