Written by Anirudh Koneru
Published on 7/25/2020
In science, discovery is what shapes knowledge—to discover is to learn, and this is what drives forward the future of medicine. In order to discover, there needs to be research. Research organizes this effort of discovery and discoveries are what improves the lives of people as a whole.
While research is critical in all fields of medicine, it is particularly imperative in the field of rare diseases. Despite their wide impact on the population, rare diseases get little attention, especially in terms of research and therapy development. However, despite the many obstacles in the way of rare disease research, it is well worth the time and expenses to invest in it.
Why does research for rare diseases matter?
Collectively, rare diseases impact more individuals than both cancer and AIDS combined. That’s a big number—at least 30 million people in the United States alone and 400 million people worldwide. Still, the research on these diseases is almost unheard of; this community as a whole is undeserved by medicine, and around 95% of rare diseases have no available treatment whatsoever.
While the benefits of research to the rare disease community are plentiful, the research of rare diseases also has many benefits for the medical community as well as to science in general. From a scientific standpoint, understanding the basic physiological and pathophysiological natures of each disease contributes to a deeper understanding of health and illness that benefits the medical community as a whole. Furthermore, a greater understanding of rare diseases as well as creative new therapies can also be applicable or spark inspiration for one another as well as more common diseases, which benefits more patients overall.
What are some challenges of conducting research for rare diseases?
While research for rare diseases is crucial, there are many factors that make research for rare diseases exceptionally difficult, moreso even than other diseases such as cancer and heart disease. Arguably among the biggest challenges for rare disease research is the fact that many times, the number of individuals affected by a specific disease is so small that finding enough patients to participate in trials alone can prove to be very difficult. Furthermore, these patients are usually spread very thin, and are so far geographically removed that getting them involved in studies is doubly difficult. Moreover, the medical experts on these specific diseases are equally distant from one another,making the organization of studies itself very hard. What makes things worse is that it often takes between 6 to 8 years to get the correct diagnosis for a rare disease patient, making finding these patients, particularly those who are even eligible, to participate in studies.
Aside from the challenges of setting up studies alone, conducting studies becomes a separate battle entirely. What makes the study of rare diseases particularly difficult, especially as influenced by the aforementioned factors, is that there is very little historical data for each disease. This is particularly true for diseases that are only now being discovered or diseases which now have faster and more accurate diagnostic methods. Because of this, not much is known about each disease, making further study difficult as there is little literature to rely upon. Moreover, patients with rare diseases are often missing biomarkers, which are chemical and physical signs of disease that react to treatment and are used to help diagnose a disease. Because rare diseases tend to lack these, developing treatments and understanding how well they are working is extremely difficult.
What’s the solution?
Currently, there are a lot of actions being taken to promote rare disease research, especially in the form of legislation and government action in advocating for rare disease research. In particular, the National Institute of Health, and a particular department of this government organization known as the National Center for Advancing Translational Sciences, or NCATS, have several initiatives and programs dedicated solely to rare, neglected, and genetic diseases. These programs address different components of the many challenges presented above in advancing the research into rare disease diagnoses and therapies.
The NCATS division of the NIH has four particular programs addressed to advocate for rare diseases: RDCRN (Rare Disease Clinical Research Network), TRND (Therapeutics for Rare and Neglected Diseases), RaDaR (Rare Diseases Registry Program), and GARD (Genetic and Rare Disease Information Center). Each of these programs, their goals, and their actions will be discussed in more depth below.
RDCRN
The RDCRN advances research by providing a network of support for clinical studies and making collaboration between professionals easier as well as getting patients involved in the trials as well. It connects scientists, patients, and patient advocacy groups to study over 280 rare diseases. The following is a list of ways in which the RDCRN makes rare disease research easier:
Makes collaboration across multiple sites and over extended periods of time possible
Promoting rare disease research to incoming scientists
Supporting pilot/feasibility research projects
Data management tools to increase the standard sand accessibility of research data for rare diseases
Providing access to information regarding rare diseases for researchers, physicians, patients, and the public
RDCRN consists of about 20 different rare disease consortias, or groups of researchers, physicians, and patients that work together to conduct research on a particular group of rare disorders. For example, the Brain Vascular Malformation Consortium: Predictors of Clinical Course or BVMC is a consortium that studies 3 rare brain conditions.
For a full list, visit: https://ncats.nih.gov/rdcrn/consortia
TRND
The TRND helps in combating some of the barriers of rare disease research; it mainly facilitates preclinical testing and motivates pharmaceutical/biotechnology companies to develop drugs and therapies for rare and neglected diseases. Drug companies are often hesitant because there is not much profit in rare diseases and the cost for development and production is very high. By performing preclinical testing, TRND makes candidates for trials more appealing to external business partners to “adopt” them for research. As a whole, TRND aims to speed and encourage development of therapies for rare diseases by focusing on improving the preclinical stages of therapeutic development.
RaDaR
RaDaR is an initiative of the NIH NCATS aimed towards making the rare disease community better equipped to promote, advocate, and raise awareness for rare diseases. It does this by assisting specifically in the creation and maintenance of registries. A registry is a “collection of information about individuals, usually focused around a specific diagnosis or condition” (RaDaR). The goal of these registries is to connect rare disease patients with researchers and studies aimed to develop treatments for them
RaDaR has 3 planned phases and is currently in its first. The phases of RaDaR are listed below:
Phase 1: Contact and Demographic information
This phase is aimed at connecting patients directly from their registries to research opportunities. It does this by finding individuals who are eligible and interested in participating in research studies and by spreading information about as many research opportunities as possible to these patients.
Phase 2: Patient Experience Data and Patient-Reported Outcomes
This phase consists of collecting data regarding the results of these studies as well as patient reported outcomes
Phase 3: Natural History and Clinical Trial Data
This phase consists of natural history studies and clinical trial data which helps to build more scientific understanding of each disease as well as create a foundation for the development of new therapies and further studies for the disease
GARD
GARD is an NCATS program funded in conjunction with the NHGRI (National Human Genome Research Institute) whose purpose is to provide the most updated information to patients, researchers, physicians, advocacy groups and leaders, and the general public. GARD contributes to the rare disease effort by compiling and making available information on rare and genetic disorders.
Big Research Projects
Currently, many companies have taken on the task of conducting research on rare diseases. Due to the vast multitude of rare diseases, each company tends to choose a few to research and focus on. For example, Rocket Pharmaceuticals is an organization dedicated to discovering curative genetic therapies for rare diseases, and is currently conducting clinical trials for Danon disease, Fanconi Anemia, LAD-I, Pyruvate Kinase Deficiency, and Infantile Malignant Osteoporosis. For more information on Rocket Pharmaceuticals, check out their website by clicking here.
What can you do?
As an ordinary citizen, you have a lot of power to enact change in rare disease research. By staying informed and reading this article, you’ve already made a difference! Furthermore, by donating to organizations such as ours as well as places like NORD and Global Genes, you help contribute directly by funding research and making a tangible difference in the lives of people living with rare disease. Be sure to check out our donations page as well as our get involved page for more information on how you can make an impact!
Feedback
Do you have any suggestions for our team? Feel free to leave any feedback about this article by going to our Contact Us page.
Thank you for reading!
Sources
ClinicalTrials.gov. (2020). Clinical Trials Home. Retrieved July 26, 2020, from https://clinicaltrials.gov/
Global Genes. (2019). RARE Facts. Retrieved July 26, 2020, from https://globalgenes.org/rare-facts/
N. (n.d.). About GARD. Retrieved July 26, 2020, from https://rarediseases.info.nih.gov/about-gard/pages/23/about-gard
NIH. (2019, October 24). About the RDCRN. Retrieved July 26, 2020, from https://ncats.nih.gov/rdcrn/about
NIH. (2020, June 09). Therapeutics for Rare and Neglected Diseases (TRND). Retrieved July 26, 2020, from https://ncats.nih.gov/trnd
NIH. (2020, March 17). About TRND. Retrieved July 26, 2020, from https://ncats.nih.gov/trnd/about
NIH. (2020, May 01). Current RDCRN Consortia. Retrieved July 26, 2020, from https://ncats.nih.gov/rdcrn/consortia
NIH. (2020, May 07). Rare Diseases Clinical Research Network (RDCRN). Retrieved July 26, 2020, from https://ncats.nih.gov/rdcrn
Novartis. (2015, February 26). Why research into rare diseases matters. Retrieved July 26, 2020, from https://www.novartis.com/stories/patient-perspectives/why-research-rare-diseases-matters