Acknowledging Rare Disease Day 2021

World Rare Disease Day, which takes place on the last day of February each year, is a day created “to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients’ lives.

In honor of Rare Disease Day 2021, PharPoint Research is diving into the facts, figures, and challenges surrounding rare diseases and rare disease clinical research. Today, we’re answering the questions:

  • What is a rare disease, and how many people are impacted by them?
  • What are common challenges in diagnosing, treating, and developing new therapies for rare indications?
  • As a CRO with rare expertise, how does PharPoint Research support companies committed to the development of new and better treatments?

Key Facts and Figures Surrounding Rare Disease

What is a rare disease? In the United States, a rare disease is defined as a condition that affects fewer than 200,000 people. While uncommon individually, rare diseases as a whole impact over 300 million people around the world. There are over 6,000 recognized rare diseases.

Approximately 70% of all rare diseases start in childhood, and a vast majority of rare diseases are genetic.


Common Challenges in Rare Disease & Rare Disease Clinical Research

Diagnosing, treating, and developing new therapies for rare diseases is complex.

According to, “due to the broad diversity of disorders and relatively common symptoms which can hide underlying rare diseases, initial misdiagnosis is common.” Symptoms differ from disease-to-disease, and even within the same disease, may differ from patient-to-patient, making a correct diagnosis even more complex is some instances.

Access to treatment and care is often difficult as well, and presents a heavy burden on patients. Unfortunately, less than 10% of rare diseases have an FDA-approved treatment.

Due to the nature of rare disease, including the small number of patients, geographic spread of patients, and the limited understanding of the disease variability and progression, drug development for rare disease is challenging.

Despite the challenge, innovative experts, researchers, and clinicians around the world are dedicated to making progress for rare patients.


About PharPoint Research

As an award-winning CRO, PharPoint Research is proud to support innovative companies in the pursuit of new therapies for rare diseases. Since 2007, we’ve worked with innovative clients to support over 150 rare disease clinical trials.

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Looking for a CRO for your rare disease clinical trial?

PharPoint is an award-winning, client-focused CRO with rare disease expertise. Reach out to a representative for more information, or a ballpark or comprehensive proposal.