Rare Disease Day 2022: How The Pharmaceutical Industry Has Stepped Up and Tips for Bringing Treatments to Market

Posted by Chad Birt on Jan 25, 2022 8:00:00 AM
Chad Birt

Imagine being diagnosed with an incurable disease. Now, imagine being diagnosed with an incurable disease that affects less than 2,000 people globally. That’s the reality more than 300 million people are living worldwide. The reality of life with a rare disease.


February is Rare Disease Month and February 28 is Rare Disease Day. These two events bring awareness to rare diseases by advocating for improved access to treatments, as well as funding for medical research. 


Rare disease therapeutics are becoming more common but progress is slow. Factors like lack of funding, pricing pressures, enhanced competition, and unforeseen delays regularly keep new drugs from launching. 


In this article, we highlight some rare disease wins and discuss how the industry can focus its efforts going forward.


A Decade of Success: Wins From the War Against Rare Diseases


Phrma.org estimates that 30 million Americans have a rare disease. That equates to about one in 10 people. Unfortunately, because rare diseases are so uncommon, there are few treatment options available. 


Making things even more challenging, is the fact that most rare diseases are caused by genetic abnormalities. As a result, there are different variations and subtypes that progress at different speeds and present different symptoms.


Even so, various rare disease therapeutics are in development. Consider the following:


  • In the last 5 years, one-third of new drugs approved by the FDA were for rare diseases
  • More than 450 medicines are currently in development for rare diseases
  • The FDA has approved more than 500 orphan drugs since the passage of the Orphan Drug Act in 1983.


Now, let’s take a closer look at some wins in the fight against rare diseases:


Chronic myelogenous leukemia (CML). CML is a rare blood cancer that commonly affects adults in their 50s and 60s. It causes leukemia cells to overtake the healthy white blood cells, red blood cells, and platelets, affecting normal immune and cell function. 


In the early 2010s, researchers developed a class of drugs known as tyrosine kinase inhibitors (TKIs). These therapies target blood cancer at the cellular level preventing abnormal cells from dividing and multiplying.


Homozygous Familial Hypercholesterolemia (HoFH). HoFH is a rare genetic disease that prevents the body from removing low-density lipoprotein, or “bad” cholesterol, from the bloodstream. Without treatment, cholesterol levels can become life-threatening, resulting in premature death.   


In 2012 and 2013, the FDA approved two medications for the treatment of HoFH. In combination with healthy lifestyle changes and other cholesterol–lowering treatments, patients saw their cholesterol levels drop up to 50%.  


These are just a few examples of the progress being made against rare diseases. This PDF features several other excellent case studies. 


Looking Ahead: How The Industry Can Focus Its Rare Disease Efforts Going Forward


Developing an orphan drug comes with plenty of risks. If you don’t take the time to strategize and plan accordingly, you may encounter exorbitant costs and countless headaches later on. 


Fortunately, there are things biopharmas can do to increase the likelihood of a successful launch. BCG recommends six steps, in particular:


1) Develop a comprehensive, long-term launch strategy.  Don’t rush this process. Consider everything, including regulatory requirements.


2) Demonstrate the product’s value. Orphan drugs are expensive. If you want stakeholders to buy in, you have to illustrate why the cost is worth it. That may require you to convince patients, caregivers, doctors, and even hospital systems.


3) Take advantage of data and analytics. Thanks to digital technologies like artificial intelligence, it’s easier than ever to crunch huge amounts of data. These tools can help you identify additional patients who might benefit from your drug or therapy.


4) Focus on patient advocacy. If you want people to use your rare disease drug or therapy, they need to understand it. Make sure that a user-friendly website and an app are part of the initial rollout. You can use these tools to answer questions and provide instruction.


5) Educate physicians on the merits of your drug. Rare diseases are rare, so a lot of people don’t know about them. You can increase awareness by targeting a group of physicians or specialists who diagnose the rare disease your treatment is for. Don’t be afraid to use digital channels like social media to build a professional network. 


6) Think about the supply chain. Certain treatments, like gene therapy, have never been manufactured on a mass scale. While developing a new drug or therapy, it’s important to consider how you’ll produce and deliver it once it’s ready.


Now that you know a little more about Rare Disease Month and rare disease research, we hope you’ll share the information with others. 


Is your company in the process of developing a rare disease treatment or therapy? Would you add anything to this list of recommendations? If so, please fill out the comment form and click the submit button below. 



Topics: clinical trial, clinical trial strategic planning, clinical trial consulting, clinical trial remote services, Clinical Research, Biotech, Pharmaceuticals, biotechnology, pharma, qualityassurance, biostatistics, biometrics, FSP, Functional Service Provider, clinical trials, project management, Good Clinical Practice, supply chain, biopharma, biomedical research, medical research, supply chain management, medical device manufacturer, supply chain shortage, rare disease awareness, rare diseases, genetic diseases

Let's talk more!

Engage with Harbor Clinical:

Harbor Clinical provides clinical trial services across key functional areas. With a core focus on quality assurance and medical writing, our approach is unique in the way we sync our QA expertise to ensure compliance at every level.  Everyone understands the role they play and their impact on product development from a regulatory perspective.  This approach lowers the risk for our clients allowing us to bring projects to completion quickly and with no surprises. 

Subscribe Here!

Recent Posts

Posts by Tag

See all