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Rare Diseases

How rare are rare diseases? The Orphan Drug Act defines a rare disease as a disease or condition that affects less than 200,000 people in the United States. Therefore, the odds of being affected by one individual rare disease is relatively low. However, when looking at all rare diseases under one umbrella, the odds drastically increase. Ten percent of Americans are affected by any rare disease. While this may seem like a strikingly high percentage, perhaps this next statistic is even more alarming: Ninety-five percent of known rare diseases do not have a drug approved for treatment. The need to develop novel drugs and therapies to treat those suffering from rare diseases is more important than ever.

Cooner, F., Williamson, F, & Carlin, B.P, (2020). Bayesian Frameworks for Rare Disease Clinical Development Programs. In E. Lesaffre, G.Baio, & B.Boulanger (Eds.), Bayesian Methods in Pharmaceutical Research (pp. 244). CRC Press.

Rare Diseases by the Numbers:

There are currently over 500 rare disease drugs in clinical development. The below chart shows a breakdown of these rare disease drugs by therapeutic area:

The demand for rare disease prescriptions has steadily increased since 2016 and is expected to continue rising for years.

There are many reasons to be optimistic about the future of rare disease drug development. Opportunities for better and faster development include the 1983 Orphan Drug Act, FDA expedited programs for serious conditions and advocacy groups.

Due in part to these opportunities, there have been many noteworthy advances in rare disease drug development. Advancements include developing the first treatments of cystic fibrosis, significant advances in targeted therapies for many forms of blood cancer, and developing the first treatments for batten disease, a rare pediatric condition.

ClinChoice Contribution to Rare Disease Drug Development

ClinChoice has provided statistics and programming services for a multitude of rare disease drugs and is familiar with the methodologies aiming to lessen the complications caused by unclear natural history and small sample size. We routinely provide tests of totality of evidence combining multiple endpoints. Global tests such as Wilcoxon Rank Sum test, O’Brien Test, and Composite Subject-Level Response analyses supplement the separate analyses for individual endpoints. The evidence of treatment effect is explored by both quantification and qualification of endpoint measures. Different simulations compare methods for the parameter of interest based on bias, mean square error, Type 1 error, and statistical power.

Rare Disease Day

Each year, ClinChoice recognizes Rare Disease Day to raise awareness. In 2022, Rare Disease Day is on February 28th.

Our mission at ClinChoice is to contribute to a healthier and safer world by accelerating the development and commercialization of innovative drugs and devices. Let’s work together to make the world a better place by ending suffering for rare disease patients.

Rare Disease Days | Awareness and Education Campaigns

  • Brings together patients and their families, policy makers, healthcare providers, pharmaceutical representatives, legislators, regulators, and researchers
  • Last day of February

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