Natural History Study of CEP290-Related Retinal Degeneration

NCT ID: NCT03396042

Last Updated: 2022-05-19

Basic Information

• Recruitment Status: COMPLETED
• Total Enrollment: 26 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2017-12-17
• Study Completion Date: 2022-05-06

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 patients with CEP290-related retinal degeneration caused by the common intron 26 mutation.

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 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.

Conditions

Blindness; Leber Congenital Amaurosis 10; Vision Disorders; Eye Diseases; Eye Diseases, Hereditary; Eye Disorders Congenital; Retinal Disease; Retinal Degeneration

Study Design

• Observational Model Type: COHORT
• Study Time Perspective: PROSPECTIVE

Study Groups

Group 1

5 Patient target, ages 3 to 5 yr, with visual acuity Light Perception (LP) to \<=20/200

No interventions assigned to this group

Group 2

5 Patient target, ages 3 to 5 yr, with visual acuity \>20/200 to \<=20/50

No interventions assigned to this group

Group 3

5 Patient target, ages 6 to 11 yr, with visual acuity LP to \<=20/200

No interventions assigned to this group

Group 4

5 Patient target, ages 6 to 11 yr, with visual acuity \>20/200 to \<=20/50

No interventions assigned to this group

Group 5

5 Patient target, ages 12 to 17 yr, with visual acuity LP to \<=20/200

No interventions assigned to this group

Group 6

5 Patient target, ages 12 to 17 yr, with visual acuity \>20/200 to \<=20/50

No interventions assigned to this group

Group 7

5 Patient target, ages 18yr and older, with visual acuity LP to \<=20/200

No interventions assigned to this group

Group 8

5 Patient target, ages 18yr and older, with visual acuity \>20/200 to \<=20/50

No interventions assigned to this group

Eligibility Criteria

Inclusion Criteria

• 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 Criteria

• 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.

• Minimum Eligible Age: 3 Years
• Maximum Eligible Age: 99 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Editas Medicine, Inc.

INDUSTRY

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Locations

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

Countries

United States; France; Germany; Netherlands

Other Identifiers

EDIT-NHS01

Identifier Type: -

Identifier Source: org_study_id