Orphan drug- A lifeline for Rare Diseases treatments

Humans are affected with various diseases which are taking thousands of people’s lives every year around the world. Most of the disease is country specific and some are race specific in which only certain group of peoples is getting affected.  With the advancement of science and medical field, researchers by bioengineering body cells and genetic materials are able to find out the new drug components to cure the disease. But in order to test its efficiency in humans using various clinical trials and to get required approval, researchers need to spend around 20-30 years for each single drug discovery.

If you don’t have an idea about the clinical research check out this post for basics of Clinical Trial.

If you want to know more about the FDA’s role in Drug safety analysis check out my previous post.

The growth of pharmaceutical industries has slowed in recent years because of various reasons such as patent expiries, generic competition, drying pipelines, and increasingly stringent regulatory guidelines. One of the main problems faced by the pharmaceutical industry is that some drug discovery will take more than expected time to reach to market due to delay in the various approval process or in some cases it will be delayed due to the extended phase of research conducted to test the possible side effects in human volunteers. And in some cases, the project might be delayed or stopped completely due to the financial problems.

As it takes very long duration and a lot of financial aid in developing a single drug, most of the companies won’t take a risk in developing a drug to disease which is very rare and affects only a few peoples around the world.

The problems in treating rare diseases are:

  • Very few patients are affected Clinical record of diseases symptoms and hence the symptoms may vary or unidentified.
  • Most of the patients are not aware of the disease or might be diagnosed with a non-rare disease.
  • Due to lack of scientific research on the disease, physicians who treat the patients are not able to identify diseases.

What are Orphan Drugs?

Many rare disorders are serious conditions with no approved treatments, leaving substantial unmet medical needs for patients.  As per the US Orphan Drug Act of 1983, a rare disease is defined as a disorder or condition that affects less than 200,000 persons in the United States.

Orphan Drugs are drugs which are developed to cure rare diseases or conditions (Unidentified/unnoticed disease) for which there are no identified treatments available.  Orphan drugs qualify the sponsor of the drug for various aid and development incentives of the US Orphan Drug Act (ODA), including tax credits for qualified clinical testing. For a drug to qualify for orphan designation both the drug and the disease or condition must meet certain criteria specified in the ODA and FDA’s implementing regulations at 21 CFR Part 316.

Approval of all drugs both rare and common conditions are based on demonstration of substantial evidence of effectiveness in treating or preventing the condition and evidence of safety for that use. Evidence of effectiveness should be obtained from one or more adequate and well-controlled studies in an identified population.

What is Orphan Subset?

An orphan subset means the use of the drug in a subset of persons with a non-rare disease or condition may be appropriate but use of the drug outside of that subset (in the remaining persons with the non-rare disease or condition) would be inappropriate owing to some properties of the drug (e.g., drug toxicity, mechanism of action, or previous clinical experience with the drug).

Challenges in developing Orphan Drugs:

Orphan Drug for Rare Diseases

Despite various tax exempts and aids are given to the development of orphan drugs, there is no effective and safe treatment available for many rare diseases. Some of the problems faced by the industry in developing Orphan drugs are:

Challenges in assessing the Clinical relevance:

The methodology for evaluating orphan drug treatments is often still in an experimental phase, hampering positioning in clinical practice.

Lack of Clinical efficient Endpoints or Biomarkers:

The selection of appropriate endpoints is critical for a clinical trial to meet its objectives. For many rare diseases, well-characterized efficient endpoints or Biomarker appropriate for the disease are not available which may delay the drug discovery process.

Check my previous post to know more about the importance of Biomarkers in FDA Accelerated Drug Approval process. 

Lack of knowledge and training:

For many rare diseases, available information is inadequate. Health professionals are often deficient in appropriate training and awareness to be able to diagnose and adequately treat these diseases.

Deficient diagnostic systems:

For many diseases, no diagnostic methods exist, or diagnostic facilities are unavailable. In these cases, diagnosis may be problematic. Consequently, validity, coding, and reproducibility are problems. Although the pace of gene discovery for rare genetic diseases has accelerated during the past decade, in part, due to the success of the Human Genome Project, translation of these discoveries to clinical utility still lags behind.

High prices:

Prices of orphan drugs per treatment episode can be very high. The affordability of orphan drugs has become a major issue for payers and is thus a strong driver of tensions between the different stakeholders.

Lack of interest in Public towards Chemotherapeutic drug:

With the advancement of regenerative medicine using gene therapy and stem cell therapies, peoples are finding positive results with very fewer side effects for most of the rare diseases hence are attracted to the cost effective Non Chemotherapeutic treatments. These developments in medicinal science field have caused the decline in Orphan drug development process.

Check out my previous post on Basics of Stem Cells Biology.

Changes in the regulation of Orphan drug from country to country:

Each country has its own rule and regulations for the development and marketing of the drug in its territory which sometimes hinders drug development process by the companies which operate in multiple countries.  For example in India, there is no regulation to the development of orphan drug but other countries like US, Europe, African countries and other South Asian countries have different regulation and definition for Orphan drug developments.

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