There is no single, widely accepted definition for rare disorders. For instance, according to the World Health Organization (WHO), “the international classification disease-11 (ICD-11) includes some 5,500 rare diseases and their synonyms” (1). According to the U.S. Food & Drug Association (FDA), “over 7,000 rare diseases affect more than 30 million people in the United States” (2). In addition, there are also regional differences. For instance, in the U.S., rare diseases are defined as “a disease or condition that impacts fewer than 200,000 people” (3). In Europe, it’s “as those with a prevalence lower than 5 in 10,000 people” (4-5) and in Japan, it’s “as those with a prevalence of less than 50,000, or one in 2,500” (6).

Developing rare disease therapies requires increased access to expertise, knowledge, data, and insights to bring the right patient to the proper treatment and/or trial at the right time. We facilitate state-of-the-art technologies, subject matter expertise, specialized logistics, and operations to accelerate your rare disease research and development.

Rare disease research and development is a priority for drug developers, patients, regulators, non-profit organizations, and healthcare providers. However, our sponsors face significant challenges when trying to advance rare disease research and innovative treatments because of the following:

• A lack of consensus on endpoints.
• Difficult to diagnose diseases.
• Difficult to identify patients.
• Lack of gathered scientific knowledge and information.
• Inexperienced, understaffed, or unavailable research centers.
• A geographically dispersed patient population.

Based on the orphanet (7) and the ICD 11 classification (1), Cerba Research has the most robust rare disease therapy experience in oncology, with 52% of our research focusing on rare neoplasms. Relapse and/or refractory multiple myeloma is the most common indication within our portfolio of rare disorder trials. However, our experience extends to various other ICD11 classification areas, such as:

• Diseases of the blood or blood-forming organs.
• Diseases of the nervous system.
• Endocrine, nutritional or metabolic diseases.
• Certain infectious or parasitic diseases.

1. World Health Organization: Rare diseases. URL [https://www.who.int/standards/classifications/frequently-asked-questions/rare-diseases].

2. U.S. Food & Drug Association: Medical products for rare diseases and conditions. URL [https://www.fda.gov/industry/medical-products-rare-diseases-and-conditions].

3. National Center for Advancing Translational Sciences: Genetic and rare diseases information center. URL [https://rarediseases.info.nih.gov/about].

4. Rath A, Olry A, Dhombres F, Brandt MM, Urbero B, Ayme S. Representation of rare diseases in health information systems: the Orphanet approach to serve a wide range of end users. Hum Mutat. 2012 May;33(5):803-8. doi: 10.1002/humu.22078. Epub 2012 Apr 6. PMID: 22422702.

5. European Medicines Agency: Orphan medicine. URL [Orphan medicine | European Medicines Agency (europa.eu)].

6. Hayashi S, Umeda T. 35 years of Japanese policy on rare diseases. Lancet. 2008 Sep 13;372(9642):889-90. doi: 10.1016/S0140-6736(08)61393-8. PMID: 18790305.

7. Orphanet: The portal for rare diseases and orphan drugs. URL [https://www.orpha.net].