Natural History Studies and Disease Registries

Natural History Studies and Disease Registries

Because IRDs are rare and only affect a relatively small number of people, there may be gaps in our understanding about the natural course of these diseases. One approach that can be used to address these is to conduct natural history studies. Natural history studies follow a group of people with the disease usually over a period of several years in order characterize how a disease progresses over time. In the case of IRDs, natural history studies may capture valuable information on how disease progression rates may vary between patients with different genetic mutations. A clear understanding of the natural history of a disease is very important to ensure that clinical studies are appropriately designed to accurately measure the clinical benefits of new treatments

The establishment of disease registries for patients with IRDs is another important research development. A disease registry is a database that contains information from people diagnosed with a specific type of disease. My Retina Tracker® is free on-line, registry provided by the Foundation Fighting Blindness where patients diagnosed with an inherited retinal disorder can store information about the progression of their disease and how it impacts their life. These data are accessible to appropriately qualified researchers working in the field of IRDs and may also help them to identify people who may be eligible to participate in studies, although this is not guaranteed.

Click here for details of natural history studies currently enrolling patients.

As mentioned previously, IRDs are caused by mutations in genes that can be inherited. This led to the title of “Inherited Retinal Disease”. The genetics of IRDs can be very complex and in approximately one-third of cases, the genetic cause is not identified. However, ongoing research and genetic testing is advancing our knowledge of such genetic changes in order to find cures.

Genetic testing is crucial to establish the cause of the disease. Critically, it can determine if individuals have a specific mutation that may be treatable by specific gene therapies. Furthermore, it can help inform about the potential risk to family members and identify other organs that might be affected (in the case of syndromic disease).

You can learn more about inheritance patterns here

Genetic testing can be necessary for participation in clinical trials for IRDs. Numerous clinical trials are currently evaluating the safety and effectiveness of gene therapy in several IRDs, including LCA, X-linked juvenile retinoschisis, RP, choroideremia, achromatopsia, and Leber Hereditary Optic Neuropathy. You can find a list of current trials related to IRDs here. You can also find trials by searching on the Clinical Trials website that lists most clinical trials, however it must be noted that not all trials listed on the clinicaltrials.gov website are valid or vetted. Therefore, we always advise that you talk with your ophthamologist about possible clinical trials participation.