Natural history studies collect information from patients over a number of years. This allows doctors to track the course of a disease and to better understand how the disease develops over time. When genetic information is also available, it allows doctors to study, and eventually predict, different disease progression between people with different genetic mutations. Knowing the natural history of a disease can also lead to better designed clinical trials and eventually new therapies.
When it comes to rare inherited retinal diseases, their natural histories are often not fully understood because simply not enough people with the condition have been observed for enough time. For this reason we were delighted to see that Canadian company QLT have recently finished enrolling participants in a natural history study for inherited retinal diseases caused by mutations in the RPE65 and LRAT genes. These mutations lead to some forms of retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA). The researchers will now look back at each participant’s medical history since their diagnosis. Once they have put all of this information together they will have a much better understanding of the progression of disease caused by mutations in these two genes. One area where these types of studies can be very useful is clinical trials, especially in deciding what should be measured as a successful outcome from the therapy.
Other natural history studies are currently being carried out in the US for Stargardt disease, Usher syndrome, X-linked retinoschisis and Bardet-Biedl syndrome. For individuals affected by sight loss, these studies give a better understanding of the condition. By taking part in these studies, people affected can provide researchers and doctors with key information on how the condition affects their lives. Please click here for more information bout different natural history studies.