Safety Study in Subjects With Leber Congenital Amaurosis

Completed · Phase 1

Conditions studied: Leber Congenital Amaurosis

In brief

The purpose of this study is to determine whether gene transfer will be safe and effective in the treatment of Leber Congenital Amaurosis (LCA).

Key facts

Study ID

NCT00516477

Run by

Spark Therapeutics, Inc.

People needed

12

Starts

2007-09-01

Expected to finish

2018-03-20

Last updated by the study team

2020-11-02

Who can join

Age: 8 and older. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• Male and female subjects of any ethnic group are eligible for participation in this study, providing they meet the following criteria:
• Must be willing to adhere to protocol and companion protocol for long-term follow-up as evidenced by written informed consent or parental permission and subject assent.
• Adults and children diagnosed with LCA.
• Molecular diagnosis of LCA due to RPE65 mutations (homozygotes or compound heterozygotes) by a CLIA-approved laboratory.
• Age eight years old or older at the time of administration.
• Visual acuity ≤ 20/160 or visual field less than 20 degrees in the eye to be injected.

You may not qualify if…

• SUBJECTS WILL NOT BE EXCLUDED BASED ON THEIR GENDER, RACE OR ETHNICITY.
• Subjects who meet any of the following conditions are excluded from the clinical study:
• Unable or unwilling to meet requirements of the study.
• Participation in a clinical study with an investigational drug in the past six months.
• Pre-existing eye conditions that would preclude the planned surgery or interfere with the interpretation of study endpoints (for example, glaucoma, corneal or lenticular opacities).
• Lack of sufficient viable retinal cells as determined by non-invasive means, such as optical coherence tomography (OCT) and/or ophthalmoscopy. Specifically, if indirect ophthalmoscopy reveals less than 1 disc area of retina which is not involved by complete retinal degeneration (indicated by geographic atrophy, thinning with tapetal sheen, or confluent intraretinal pigment migration), these eyes will be excluded. In addition, in eyes where optical coherence tomography (OCT) scans of sufficient quality can be obtained, areas of retina with thickness measurements less than 100 um, or absence of neural retina, will not be targeted for delivery of AAV2-hRPE65v2.
• Complicating systemic diseases or clinically significant abnormal baseline laboratory values. Complicating systemic diseases would include those in which the disease itself, or the treatment for the disease, can alter ocular function. Examples are malignancies whose treatment could affect central nervous system function (for example, radiation treatment of the orbit; leukemia with CNS/optic nerve involvement). Also excluded would be subjects with immuno-compromising diseases, as there could be susceptibility to opportunistic infection (such as CMV retinitis). Subjects with diabetes or sickle cell disease would be excluded if they had any manifestation of advanced retinopathy (e.g. macular edema or proliferative changes). Subjects with juvenile rheumatoid arthritis could be excluded due to increased infection risk after surgery due to poor wound healing. Subjects who are positive for hepatitis B, C, and HIV will be excluded.
• Prior ocular surgery within six months.
• Known sensitivity to medications planned for use in the peri-operative period.
• Individuals of childbearing potential who are pregnant or unwilling to use effective contraception for the duration of the study.
• Any other condition that would not allow the potential subject to complete follow-up examinations during the course of the study and, in the opinion of the investigator, makes the potential subject unsuitable for the study.
• Subjects will be excluded if immunological studies show presence of neutralizing antibodies to AAV2 above 1:1000.

Where it is running

• The Children's Hospital of Philadelphia — Philadelphia, Pennsylvania, United States

Full record on ClinicalTrials.gov

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