CEP290 mutation Retinal Degeneration
Conditions
Interventions
None listed
Sponsors
Editas Medicine, Inc.
Eligibility
Age
2 Years to 64 Years
Inclusion criteria
Inclusion criteria: 1. pariticipants and/or parent/legal guardian must complete/sign an informed consent form (ICF). If required on a per participants basis, provisions can be made for alternative forms of consent (eg, witnessed consent). Where required by the IRB/IEC, minors must also verbalize or sign a confirmation of assent. Refer to Section 11.3; 2. Male or female participants >=6 years of age at Screening; 3. Has abnormally decreased vision, defined as having light perception to 20/50 best-corrected visual acuity (BCVA) in each eye, 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 (ie, 1 or 2 copies of the intron 26 c.2991+1655A>G mutation) confirmed by deoxyribonucleic acid sequencing; 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; and 7. For females of childbearing potential: is not pregnant as confirmed by a negative urine pregnancy test at Screening and is not planning to become pregnant during the course of the study.
Exclusion criteria
Exclusion criteria: 1. Has history or current evidence of a medical condition (systemic or ophthalmic disease, metabolic dysfunction, physical examination finding, or clinical laboratory finding) that may, in the opinion of the Investigator, preclude adherence to the scheduled study visits, safe participation in the study, or affect the results of the study (eg, uncontrolled systemic hypertension, autoimmune disease, advanced coronary artery disease, or cerebral vascular disease, other unstable or progressive cardiovascular, pulmonary, Parkinson's, liver or renal disease, cancer, or dementia); 2. Has history or current evidence of ocular disease in either eye that, in the opinion of the Investigator, may confound assessment of this inherited retinal disease or the assessments utilized herein (eg, glaucoma, age-related macular degeneration, diabetic retinopathy, uveitis, or the presence of any condition that precludes adequate visualization of the fundus such as dense cataracts or corneal scarring); 3. Achieves a passing score for the Visual Function Navigation Test at the maximum level of difficulty (ie. passes the most challenging Visual Function Navigation Test under the dimmest lighting conditions) with each eye independently and both eyes together; 4. Is currently receiving gene therapy and/or has received gene therapy or oligonucleotide therapeutics; 5. Is currently enrolled in an investigational or interventional drug or device study and/or has participated in such a study within 30 days of Screening. 6. For females of childbearing potential: is pregnant (or planning to become pregnant) or breastfeeding.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| The feasibility, test/retest variability, and changes over time of key assessments in participants with CEP290-related retinal degeneration. Whether the Visual Function Navigation Test as a clinically meaningful endpoint of functional vision in participants with CEP290-related retinal degeneration. | — |
Secondary
| Measure | Time frame |
|---|---|
| CEP290-related retinal degeneration and the clinical phenotype of participants with light perception to 20/50 visual acuity and with either compound heterozygous or homozygous intron 26 c.2991+1655A>G mutations | — |
Countries
Netherlands
Outcome results
None listed