Natural History Study of CEP290-Related Retinal Degeneration

Title  Natural History Study of CEP290-Related Retinal Degeneration 
MEEI Protocol ID 17-105H 
National Clinical Trial (NCT) Number NCT03396042 
Condition CEP290-related retinal degeneration; clinical phenotype of heterozygous or homozygous intron 26 c.2991+1655A>G mutations 
Sponsor Editas Medicine, Inc. 
Principal Investigator Eric Pierce, MD, PhD
Study design Natural history study. Visits will occur at screening, baseline (test and retest), and months 3, 6, and 12, for a total study duration of 1 year.
Study Objective 1.To prospectively characterize CEP290-related retinal degeneration and the clinical phenotype of patients with either compound heterozygous or homozygous intron 26 c.2991+1655A>G mutations
2. To evaluate the feasibility, test/retest variability, and changes over time of key assessments in this population
3. To validate the Ora Visual Navigation Challenge (VNC)™ courses as a clinically meaningful endpoint of functional vision in patients with CEP290-related retinal degeneration
Who is Eligible  Inclusion criteria Inclusion Criteria
1. Patient and/or parent/legal guardian must complete/sign an informed consent form (ICF).
2. Is at least 3 years of age at screening
3. Has abnormally decreased vision, defined as having light perception to 20/60 visual acuity, with examination and test results consistent with an inherited retinal degeneration due to mutations in the CEP290 gene
4. Has CEP290-related retinal degeneration caused by a compound heterozygous or homozygous intron 26 c.2991+1655A>G mutation confirmed by deoxyribonucleic acid sequencing at time of screening visit
5. Has ability to cooperate with assessments relative to age
6. Has clear ocular media and adequate pupil dilation in at least 1 eye, to permit good quality fundus examination and optical coherence tomography (OCT) imaging
7. Be able to successfully navigate the maze
Subject Enrollment Approximately 40 patients will be enrolled in this natural history study, 10 of which will be patients at MEE.
Study Procedures General physical examination, complete ophthalmic examination, visual acuity testing, FST testing, mobility maze testing, color fundus photos, OCT, FAF, pupillometry, ffERG, visual ability and vision-related quality of life assessment, genetic testing of the CEP290 gene.
For more Information Email Ophthalmology Clinical Research Office 617-573-6060

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