Status:
COMPLETED
Natural History Study of CEP290-Related Retinal Degeneration
Lead Sponsor:
Editas Medicine, Inc.
Conditions:
Blindness
Leber Congenital Amaurosis 10
Eligibility:
All Genders
3-99 years
Brief Summary
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 patien...
Detailed Description
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 unde...
Eligibility Criteria
Inclusion
- Patient and/or parent/legal guardian must complete/sign an informed consent form (ICF). If required on a per patient 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.
- At least 3 years of age at screening.
- Has abnormally decreased vision, defined as having light perception to 20/50 visual acuity in each eye, with examination and test results consistent with an inherited retinal degeneration due to mutations in the CEP290 gene.
- 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.
- Has ability to cooperate with assessments relative to age.
- 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.
Exclusion
- 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).
- 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).
- 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.
- Is currently receiving gene therapy and/or has received gene therapy.
- 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.
Key Trial Info
Start Date :
December 17 2017
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
May 6 2022
Estimated Enrollment :
26 Patients enrolled
Trial Details
Trial ID
NCT03396042
Start Date
December 17 2017
End Date
May 6 2022
Last Update
May 19 2022
Active Locations (7)
Enter a location and click search to find clinical trials sorted by distance.
1
Bascom Palmer Eye Institute
Miami, Florida, United States, 33136
2
Massachusetts Eye and Ear Infirmary
Boston, Massachusetts, United States, 02114
3
W.K. Kellogg Eye Center
Ann Arbor, Michigan, United States, 48105
4
Casey Eye Institute - OHSU
Portland, Oregon, United States, 97239