An Observational Study on Prospective Data Collection Regarding the Incidence and Clinical Course of Retinoblastoma

Retinoblastoma is a very rare but malignant tumor of the eye; it occurs exclusively in early childhood and can affect either one or both eyes. It is often caused by a mutation in the retinoblastoma 1 gene (RB1 gene), which is either inherited or arises spontaneously. The RB1 gene produces the retinoblastoma protein (pRB), which ensures that cells divide only when necessary. If the RB1 gene is mutated, this control system can fail, which can lead to uncontrolled cell growth and, consequently, the development of cancer. Standard treatment varies depending on the extent of the tumor and includes removal of the eye or eye-sparing therapies such as laser treatment, cryotherapy, chemotherapy, and radiation therapy. The cure rate is very high, at over 95%, but many patients are affected for life by impaired vision and long-term side effects of the treatment. Since retinoblastoma is a very rare disease, there is little data available to select the best possible treatment on an individual basis.

The goal of the Germany- and Austria-wide RB Registry study is therefore to collect data on the incidence and course of retinoblastoma, regardless of the treatment. Children receiving both standard treatment and experimental therapies are followed up over the long term. To this end, standardized case report forms (CRFs) detailing treatment and disease progression up to age 18 are regularly completed by the treating physicians. The study investigates at which stages children in Germany and Austria are diagnosed with retinoblastoma in order to better understand disease progression and potentially improve early detection. In addition, the data recorded in the registry form the basis for future clinical studies aimed at improving the treatment and follow-up care of affected patients. To better compare study results across different centers, tissue samples and images of the tumor are evaluated.

Children and adolescents under the age of 18 who have been newly diagnosed with retinoblastoma or a hereditary RB1 mutation are eligible to participate in the study. Children with other malignant eye tumors or a cancer associated with an RB1 mutation are also included. A prerequisite is that they have not yet received any specific treatment for the tumor prior to participating in the study. In addition, written consent from the legal guardians is required, and the child must reside in Germany or Austria.