What is the POLARIS Clinical Trial?

The POLARIS trial is an observational study of Stargardt Disease Type 1 (STGD1), a rare eye disease of children and adults. Unfortunately, information about the natural history of rare diseases such as Stargardt Disease is often limited. Observational studies, where you follow how the disease develops over time, play an important role in the understanding of rare diseases and helping to develop effective potential treatments.

The aim of the POLARIS study is to identify the right patients and the right tests to measure for future clinical trials of a novel gene therapy to treat Stargardt Disease.
There is no treatment in this study, however, those who meet the conditions for the future gene therapy study will be able to enroll in that study, if they choose to.

What is Stargardt Disease Type 1 (STGD1)?

Stargardt Disease Type 1 (STGD1) is an inherited rare genetic eye disease in which light-sensitive cells in the retina (the thin layer of tissue that lines the inner surface of the back of the eye) do not work correctly.

STGD1 is caused by mutations, or defects, in a gene called adenosine triphosphate (ATP)-binding cassette, sub-family A, member 4 (ABCA4) gene. This gene codes for a protein that plays an important role in the normal functioning of the eye and in how we generate vision.

STGD1 is an autosomal recessive disease. This means that you receive the defective gene that is not functioning normally from both your mother and your father. This can be checked with genetic testing.

Although rare, STGD1 is one of the most common inherited eye diseases and generally starts to cause vision loss in childhood or adolescence. However, the disease can also start in adulthood.

STGD1 can lead to loss of vision due to degeneration (breakdown) of special cells in the retina called photoreceptors and retinal pigment epithelial cells, which are needed for normal vision. Patients with STGD1 generally present with central visual problems, like difficulty reading a book or seeing the board clearly at school. Patients may also experience night vision problems, color vision changes and blind spots in their vision.

Currently, there is no approved treatment or cure for STGD1.

Who can participate in the POLARIS trial?

The POLARIS trial is for males and females between the ages of 12 and 65 who have Stargardt Disease Type 1 (STGD1) caused by two or more mutations (or defects) in the ABCA4 gene. Individuals must meet certain criteria to qualify for the study.

You or your child may be eligible for the POLARIS Clinical Trial if

Diagnosed with Stargardt Disease Type 1 and have two or more disease-causing gene mutations, or defects, in the ABCA4 gene (confirmed by genetic testing).

Visual acuity, on a standard eye chart and in at least one eye, is between 20/25 and 20/320.

Male or Female between the ages of 12 and 65 years of age.
You will also be asked questions about your medical history and checked with special eye tests should you consent to be part of the POLARIS study to make sure you meet certain conditions for entering the study.

SpliceBio, the sponsor of the POLARIS study, will pay for all testing in this study.