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Expertise in Rare and Orphan Disease Research

October 2019 | Written by Flora Sandra Siami, MPH

A rare disease, also called an “orphan” disease, is any condition affecting a small percentage of the population. While there is no single cutoff for what is considered a “small percentage,” the World Health Organization has suggested a condition affecting less than 1 in every 1,000 people, whereas the U.S. Rare Diseases Act of 2002 uses a stricter cutoff of 1 in every 1,500 people.

Recruiting patients with rare/orphan diseases can be challenging, but our team has developed successful outreach strategies in both adult and pediatric populations. We work closely with clinical sites, patient advocacy groups, and non-profit disease foundations to meet specific study goals. We have successfully conducted studies of such rare/orphan conditions as thalassemia, sickle cell anemia, hemophilia, Marfan Syndrome, and sudden infant death syndrome (SIDS).

Our Clinical Research experts have worked collaboratively in complex studies of rare/orphan diseases with multi-specialty teams and multiple stakeholders, e.g., industry sponsors, government agencies, professional societies, and foundations. Offerings to our clients include customized clinical trials, epidemiology, health and policy research, and patient registry services in areas as diverse as implantable pediatric medical devices and periventricular leukomalacia (a brain injury in premature infants).

Here are five additional reasons that our team stands out as a choice for studies or research in rare/orphan disease states:

  1. Even with small pools of potential trial subjects we can identify, recruit, and maintain subject involvement in order to meet enrollment and other project deadlines.
  2. Through our long expertise in atypical trials we have developed the scientific flexibility and adaptability that will benefit new studies.
  3. We combine the science, expertise, and focus of an academic center with the technical, regulatory, and statistical expertise of a large CRO.
  4. We have in-house regulatory and statistical consulting expertise to ensure sound regulatory strategy and trial design and innovative strategies for statistical methodologies.
  5. We have a strong digital research solutions team which collaborates on clinical trial recruitment and retention efforts.
Flora Sandra Siami, MPH
Former Staff Vice President, Clinical Research, Regulatory and Quality

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