Rare diseases present a special challenge to medical research. There are thousands of rare diseases. And more are being found each year with the help of genetic testing. But each group of patients is small, and often there is more unknown than known about these conditions.1
To improve this situation, the US government and many nonprofits fund programs to improve the diagnosis and treatment of rare conditions. There are generally 2 types of programs:2
- Patient registries that help doctors find and study people with rare conditions and improve our basic knowledge of those conditions
- Clinical studies aimed at finding treatments for rare diseases
Importance of natural histories
People with rare conditions may not know anyone else dealing with their unique set of symptoms. It may be impossible to know:3
- How a rare disease will progress
- What treatments may work
- Whether the disease will shorten someone's lifespan
This is where natural histories come in. In the past, natural histories were a collection of information about the initial symptoms of a disease and how the disease damages the body if it goes untreated. Today, these histories are likely to also include information about people receiving standard care or emerging treatments for the disease, because treatments can affect the data collected.3,4
While there may still be questions left to answer, doctors generally know how and why common diseases like diabetes or heart disease develop and progress. Substantial medical knowledge of these conditions guides doctors in what treatments to prescribe at different stages.3-6
Rare conditions often have little to no established natural history. This makes it difficult to find a correct diagnosis or effective treatments. To improve this situation, the US government began funding natural history studies of rare diseases in 2016. The type of information collected includes:3-7
- Basic data such as gender, age, ethnicity, marital status, geography, and occupation
- Age when symptoms began and when diagnosed
- How symptoms have progressed over time
- Medical test results and images
- Effects on quality of life
- Treatments and whether they helped, did nothing, or caused harm
- Patient and caregiver views
This knowledge can raise awareness of a condition. It also helps doctors learn more about symptoms and diagnosis and guide clinical studies and drug development. Over time, information from natural history studies helps doctors prescribe more effective treatments and improve patient care.5,6
To learn more, visit the National Institutes of Health's list of patient registries or the US Food and Drug Administration's Orphan Products Natural History Grants Program. The nonprofit National Organization for Rare Diseases also offers:1,3,6
- A patient registry for people with rare diseases
- Resources on how to find people with the same or a similar rare disease
- Resources for starting your own foundation
- Tips for fundraising and advocacy
Value of clinical studies
Clinical research can include observational studies and clinical trials. Both types of studies allow doctors and patients to learn more about diseases and find effective treatments. Observational studies observe people in their normal settings. Clinical trials are often meant to evaluate a treatment. Participating in a clinical trial may be a good way to take part in improving the treatment and management of your rare disease.7
There are many types of clinical research. Some researchers build patient registries and study the natural history of a condition. Others test new ways to diagnose a disease. Some test whether a drug, surgery, or device improves symptoms or slows progression. Still others compare one treatment to another, or explore ways to improve quality of life.7
The US government programs devoted specifically to rare disease research include:8,9
- Research into ways to shorten the typical rare disease diagnostic journey and improve diagnostic tools through the Multidisciplinary Machine-Assisted, Genomic Analysis and Clinical Approaches to Shortening the Rare Diseases Diagnostic Odyssey (UG3/UH3 Clinical Trial Optional)
- Several programs to improve technology to speed drug development and improve diagnosis at the National Center for Advancing Translational Sciences
- Partnerships with businesses and nonprofits to find gene therapies targeted for rare diseases through the Accelerating Medicines Partnership® Bespoke Gene Therapy Consortium (BGTC)
- Funding for 20 research groups focused on a rare disorders through the Rare Diseases Network and Genetic and Rare Diseases Information Center (GARD)
If a clinical study does not exist for your condition, one of these organizations may be able to help you find scientists who are studying your rare disease.