Natural History Study of CEP290-Related Retinal Degeneration

Sponsor

Editas Medicine, Inc. (Industry)

Overall Status

Completed

CT.gov ID

NCT03396042

Collaborator

(none)

Enrollment

Locations

52.6

Actual Duration (Months)

3.7

Patients Per Site

0.1

Patients Per Site Per Month

Study Details

Study Description

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.

Condition or Disease	Intervention/Treatment	Phase
Blindness Leber Congenital Amaurosis 10 Vision Disorders Eye Diseases Eye Diseases, Hereditary Eye Disorders Congenital Retinal Disease Retinal Degeneration

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.

Study Design

Study Type:

Observational

Actual Enrollment :

26 participants

Observational Model:

Cohort

Time Perspective:

Prospective

Official Title:

Natural History Study of CEP290-Related Retinal Degeneration

Actual Study Start Date :

Dec 17, 2017

Actual Primary Completion Date :

May 6, 2022

Actual Study Completion Date :

May 6, 2022

Arms and Interventions

Arm	Intervention/Treatment
Group 1 5 Patient target, ages 3 to 5 yr, with visual acuity Light Perception (LP) to <=20/200
Group 2 5 Patient target, ages 3 to 5 yr, with visual acuity >20/200 to <=20/50
Group 3 5 Patient target, ages 6 to 11 yr, with visual acuity LP to <=20/200
Group 4 5 Patient target, ages 6 to 11 yr, with visual acuity >20/200 to <=20/50
Group 5 5 Patient target, ages 12 to 17 yr, with visual acuity LP to <=20/200
Group 6 5 Patient target, ages 12 to 17 yr, with visual acuity >20/200 to <=20/50
Group 7 5 Patient target, ages 18yr and older, with visual acuity LP to <=20/200
Group 8 5 Patient target, ages 18yr and older, with visual acuity >20/200 to <=20/50

Outcome Measures

Primary Outcome Measures

Characterize CEP290-related retinal degeneration [Through 12 months]
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

Eligibility Criteria

Criteria

Ages Eligible for Study:

3 Years to 99 Years

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

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.

Contacts and Locations

Locations

	Site	City	State	Country	Postal Code
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
5	Universite Pierre et Marie Curie	Paris		France	75252
6	Universitaetsklinikum Giessen and Marburg GmbH	Giessen		Germany	35392
7	Radboud Universitair Medisch Centrum	Nijmegen	Gelderland	Netherlands	6525