Patients with rare diseases face a great challenge to get properly diagnosed, on average waiting 6 years from when symptoms develop. Even with proper diagnosis, currently only about 350 of the 7,000 rare and orphan diseases (those conditions affecting less than 200,000 people nationwide) have treatments.
A decisive step in the development of a therapy is the clinical trial. A clinical trial is where experimental treatments are tested on a small group of patients. However, these diseases affect so few people that many clinical trials are stopped due to inability to identify and recruit patients. If a clinical trial can’t be run, then development of a treatment can’t continue, creating a potentially life-threatening health crisis for those affected by the disease.
Your challenge is to recommend a “Research Study” strategy for a specific set of disorders: Lysosomal Storage Disorders (LSD). LSDs are a family of conditions that affect the cell’s ability to digest and recycle large molecules, resulting in cell death. Many diseases in this family affect children and can be fatal within a few years of birth, heightening the need for timely diagnosis.
Identify patients with the condition and develop a recruiting and monitoring strategy for a clinical trial. Your strategy should be based on an analysis that includes data regarding (1) the demographics and geographic dispersion of people by country, (2) the demographics of the people the disease affects, and (3) the location of research centers related with the capability to run the clinical trial.
Your analysis should address one or more of the following questions:
- What is the likely distribution of LSD patients across the globe? Are certain areas more likely to contain patients with the disease than others?
- Which disease(s) in the LSD family would you prioritize and why?
- Where should the clinical site be located to provide the greatest possibility of finding and recruiting patients?
- What are the key criteria for clinical site selection?
Additional background about the disease
- Information about rare diseases can be found through these portals for rare diseases and orphan drug information
- LSD-specific information
- LAL-D (one example of a Lysosomal Storage Disorder) sources
- A good overview of the clinical trial challenges for LSDs
Sources of data about the disease
- LSDs incidence/prevalence from the National Institute of Health (refer to Table 1)
- Population statistics
- Healthcare/Research center locations and their specialty
- Research grant recipients are a good way to find expertise centers, such as RareDiseases.org and the National Tey-Sachs & Allied Diseases Association
- ClinicalTrials.gov (from the NIH) is a great source of past and present trials for any disease.
- You can find useful information under the “contacts and locations” section of each trial description page.
The Temple University Library has created a guide for this challenge to help you find even more data.