Longitudinal Neuroimaging of LCA

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Study Overview

Leber's Congenital Amaurosis (LCA) is a rare eye disease, showing symptoms at birth or in the first few months of life. Recently, members of this study team developed a therapy for type 2 LCA, which was approved by the FDA in December of 2017. We will study the effects of this therapy in relation to LCA subjects not receiving the therapy and to healthy controls.

We are interested to see how the brain changes in structure and function because of LCA and the effects of the new therapy.

You are invited to participate for one of the following reasons:

 1) You have a form of Leber’s Congenital Amaurosis (type 2) and are eligible for gene transfer intervention at the Children's Hospital of Philadelphia or University of Iowa. Your participation in this study may help us better understand the potential of this new therapy.

 2) You have a form of Leber’s Congenital Amaurosis (type 2) and are receiving Luxturna as a treatment for your LCA2 condition.

Study Description

If you take part in this study you will have the following tests and procedures. Some of the procedures may be repeated several times. Tests that are part of your regular, routine medical care will continue to be performed. Additional tests may be performed if any of your initial test results are not normal.

Interviews:      A team member will take your medical history, along with a listing of any medications you are taking. Throughout the study you will be asked to report if you think that anything bad has happened as a result of the study. If you have LCA2, we may ask you questions regarding your vision and flashes of light. This information is used to inform MRI acquisition.

Eye Examination: Exams will be conducted for normal control subjects and any subjects with LCA who haven’t had them performed recently. If these exams have already been performed, we will review the results of the exams in your medical records and use them for this study.

Visual acuityinvolves reading letters or identifying images from a chart, identifying objects, or identifying light versus dark in order to measure ability to see.

Visual fields – involves looking into a screen and pressing a button whenever a light coming from the side is seen.

If you are undergoing gene therapy at Children’s Hospital of Philadelphia, University of Iowa, or receiving Luxturna we will request your data on eye examinations so that these not need be repeated for the MRI study.

Pregnancy Test: If you are between 11-17 years old or under 11 years old and have already started having periods, you will be asked to take a pregnancy test before starting this study. The results will be shared with you and not with your parent(s). We strongly encourage you to share the results with your parents. If you are found to be pregnant, you will not be able to continue participation in the study. About a half of a cup of urine will be needed. If you are 18 years or older you should not have an MRI if there is a chance you may be pregnant. Your completion and signature on the Radiology Screening form certifies you do not believe you are pregnant.

Magnetic Resonance Imaging (MRI): You will have a brain MRI scan. This type of scan uses magnetic fields to take pictures of the brain. The pictures show the anatomy (the structures) of the brain.

You will lie down on a narrow bed, which will then be placed in the MRI scanner. The scanner will look like a tunnel that is open on each end. You will need to lie quietly for about an hour and a half.

Some of the MRI sequences we will use to obtain data about your brain are investigational. This means that they are not approved by the FDA. 

Functional MRI (fMRI): fMRI takes pictures of the brain and shows locations of brain activity by measuring changes in blood flow. You will be shown pictures or listen to sounds, or be presented with some other type of sensory input while lying on the MRI table. You may be asked to press a button as part of fMRI test. We may track your eye movements if you are shown pictures. The functional MRI part will take around 30 minutes. You will be asked to lie still during the exam.  If there is any motion during the test we may have to repeat the tests on the same day or a later date unless you decide not to continue with your participation in the study.

*It is important to note that not all subjects will complete all fMRI procedures. For example, we may only perform some of the visual tests or only show you pictures during MRI and not perform sounds tests.

Additional Information:

You will receive $50 for each MRI scan that you complete.

You will be reimbursed up to $20 for parking/local transportation if applicable (if you are under 18, your parent/guardian will receive this) for each visit.

You may receive part of this payment if you leave the study early. Whether you are paid will depend on when you stopped being in the study.

  • Study Identifier: 817620

Recruitment Status


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