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Bascom Palmer Eye Institute

About the the LHON Study

Objectives

The major aim of this study is to identify and clinical characterize a group of patients and carriers with LHON due to G11778A mutation in preparation for a future gene therapy study. The intent is to eventually choose subjects for the future phase 1 or phase 2 of the gene therapy study from the participants in this preparatory phase of the study.

Description

There are two phases to this study: the diagnosis confirmation phase and the follow up phase.
Your participation in the main phase of the study will last approximately 4 weeks from the time you enter the study. During the main part of the study, you will have a screening (or baseline visit) and if you are eligible for the study, you will be asked to have a blood sample taken for DNA analysis to confirm the diagnosis of the most common genetic change (G11778A LHON mutation) that causes LHON.

If the results are negative for the most common genetic change (G11778A LHON mutation) that causes LHON. we will direct you back to your referring doctor or if you wish, you may be seen in our clinic. If the DNA results return positive for the most common genetic change (G11778A LHON mutation) that causes LHON. you will be asked to participate in the follow up phase of the research study that will last approximately 4 years.

During the follow-up phase you will be asked to return to the clinic for 8 scheduled office visits: Month 6 (Visit 1), Month 12 (Visit 2), Month 18 (Visit 3), Month 24 (Visit 4), and Month 30 (Visit 5), Month 36 (Visit 6), Month 42 (Visit 7) and Month 48 (Visit 8).

The total length of your participation in the study could last up to 4 years (including both the main and follow-up phases).