New Research in Rare Disease Treatment for a More Promising Future

Over the last six years, there has been a surge in recognition of the need to find treatments for the many people, including children, who have a rare disorder. Global Genes, a leading rare disease patient advocacy organization, has brought rare disease patients, innovators and researchers together for the past four years at the annual RARE in the Square, during J.P. Morgan's annual Healthcare Conference in January. The International Rare Diseases Research Consortium (IRDiRC), founded in 2011, announced that they had met their 2020 goal for 200 new therapies for rare disease three years earlier in 2017. Major research has been focused on rare disorders in many countries, most notably from the US National Institutes of Health (NIH), the European Commission (EC), and the newly formed Japan Agency for Medical Research and Development (AMED).

What are these new rare disease treatment developments and what have they achieved for the rare patient community?

Diagnosis

Recent data has shown that it can take up to six years to receive a diagnosis for a rare disease. Since most rare diseases are caused by mutations in the genes, scientists are focusing on identifying the malfunctioning or abnormal gene to make an accurate diagnosis—and one that can lead to finding a treatment. The ability for researchers to share their data will now result in a faster path to the discovery of which gene is responsible, and which tests are needed in order to expedite diagnosis. New diagnostic methods that have shortened lab turnaround time have also expedited diagnosis for some rare diseases.

Treatments

Over 90% of rare diseases have no approved treatment. New regulations, policies, and incentives have garnered more attention on and investment in rare disease therapies. Since 2010, IRDiRC has tracked an increase in approvals from 15 to 40 for new indications for a rare disease in the European Union and/or the United States. Currently, there is an average of approximately 35 approvals per year. From 2010 to 2016, over 220 medications for rare diseases received first approval in the European Union and/or the United States.

What does the future hold for rare disease treatment?

The access to information online will help expedite diagnosis further. Online Mendelian Inheritance in Man (OMIM)17 and Orphanet18 are two highly reliable databases that collect information on newly reported diseases and disease genes. Access to more information about patients, their symptoms and progress will likely be found from the new sources like surveys of specialty physicians, clinical labs, and patient organizations, or from rare disease networks.

Expectations have been raised for what is possible in rare disease thanks to the performance of innovative therapies in many cases of rare disorders and rare cancers.  Researchers first identified a missing enzyme or a missing gene as the cause of the disorder, and then devised enzyme replacement or gene therapy which demonstrated transformative results. In lysosomal storage diseases and hypophosphatasia, enzyme replacement therapy has become the standard of care. 

Gene therapy makes changes to DNA in order to help treat, or potentially even cure, a disease. Because of the results gene replacement therapy have produced with regard to how genetic diseases are treated, many scientists and pharmaceutical companies are engaged in development of gene therapies for genetic diseases where just one gene is missing or non-functional. 

In cases of rare genetic diseases where a non-functional or missing gene was identified, researchers were able to create a working gene, and devised a technology to transfer that gene into humans. Gene therapies are in development for children with rare neurological diseases like Sanfilippo’s Syndrome and blood diseases like Sickle Cell Disease. Research centers like National Children’s Hospital in Columbus Ohio and St. Jude’s in Memphis are working on gene therapies and how to apply them to many other rare diseases.

What can you do about rare disease research?

Find out more about what’s out there. And don’t just rely on your doctor to tell you about the latest research being done in your or other rare diseases. People like you are the focal point of clinical research and drug development. Companies and researchers have come to rely on feedback from patients to better understand what it’s like to live with a disease, and that information can help them in the development of clinical studies. That means that your contributions and participation are critical to the development of new treatments for others like you with a rare disease. 


Written By
Know Rare Team