A prospective natural history study with systematic assessments and uniform follow-up to provide a high-quality dataset for assisting in the design of future clinical treatment trials involving patients with CEP290-related retinal degeneration caused by the common intron 26 mutation.
The purpose of the study is to describe the natural history of CEP290-related retinal degeneration caused by a compound heterozygous or homozygous intron 26 c.2991+1655A\>G mutation and to better understand the best assessments for evaluation of patients with this condition in a future interventional trial. Patients meeting the entry criteria will be enrolled in the study. Visits will occur at Screening, Baseline, and Months 3, 6, and 12, for a total duration of 1 year.
Study Type
OBSERVATIONAL
Enrollment
26
Bascom Palmer Eye Institute
Miami, Florida, United States
Massachusetts Eye and Ear Infirmary
Boston, Massachusetts, United States
W.K. Kellogg Eye Center
Ann Arbor, Michigan, United States
Casey Eye Institute - OHSU
Portland, Oregon, United States
Universite Pierre et Marie Curie
Paris, France
Universitaetsklinikum Giessen and Marburg GmbH
Giessen, Germany
Radboud Universitair Medisch Centrum
Nijmegen, Gelderland, Netherlands
Characterize CEP290-related retinal degeneration
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
Time frame: Through 12 months
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