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3 Critical Steps to Maximizing Rare Disease Research Potential

All parents have characterizations of their children based on their personalities or actions. When I think of my daughter, Chloe, I think “pioneer.” Chloe died at 27 months from a rare neurological condition, and my husband and I made the decision to make her medical information available to research from the very start.

Medical research is obviously the bedrock of treatment advancement for all diseases — rare disease are no exception. However, because of smaller patient populations and limited general understanding in the medical community, rare disease research may look different than research for larger patient populations. Here are three crucial points related to rare disease research:

1. Natural history studies are critical to making progress on rare diseases

In medical terms, a natural history study is the study of the typical progression of a disease and its effects on a patient community. Understanding a disease’s progression and effects is the first step in developing a treatment. While more common diseases can be studied by conducting formal trials on several patients, small patient populations make the formal trial design difficult. This means information gathered from the patient’s environment especially vital. The FDA has launched a grant program to fund the establishment of natural history studies in order to get a baseline understanding of various rare diseases and set the groundwork for future treatments. This approach will hopefully give us better baseline understandings of rare diseases.

2. Single-patient case studies are a legitimate alternative to large patient studies and can set the groundwork for treatment for a patient population

 Typically, researchers enroll a group of patients to conduct research. But what if a disease only affects 1 in 1 million patients? The FDA has recognized that critical scientific advancement for rare diseases necessitates flexibility in trial design. Under the expanded access program, the FDA has recognized this barrier and allows for the treating of a single patient with experimental therapies. When completed with scientific rigor, these single-patient studies can provide critical information that can be generalized to the rare disease population. Additionally, as more single patient studies are conducted, their data can be combined for a more thorough understanding of a disease. This is a much-needed innovation in rare disease research and should be seriously considered as a research option by the scientific community.

3. Creating centers of clinical excellence for rare diseases would increase the efficiency and cost effectiveness of clinical trials and improve care for the rare disease community

While centers of excellence have long been a part of advancing medicine for cancer, the model has not yet been applied to rare disease intervention. Some experts, such as Dr. Paul Orchard at the University of Minnesota and experts at National Organization for Rare Disorders, believe applying the same model to rare disease treatment and research would allow physicians and researchers to concentrate resources and expertise. Instead of expecting hospitals to provide care for patients with a diagnosis perhaps never seen before by staff, centers of clinical excellence would give patients a place with doctors and researchers experienced in the complexities of rare disease treatments.

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