Clinical trial NCT03396042: Natural History Study of CEP290-Related Retinal Degeneration
Official title: Natural History Study of CEP290-Related Retinal Degeneration
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Blindness
Leber Congenital Amaurosis 10
Vision Disorders
Eye Diseases
Eye Diseases, Hereditary
Eye Disorders Congenital
Retinal Disease
Retinal Degeneration
Keywords: CEP290
LCA10
Retinal degenerative diseases (RDD)
Leber congenital amaurosis (LCA)
Congenital Retinal Blindness
p.Cys998X
c.2991+1655A>G
Eye Diseases Signs and Symptoms
Genetic Diseases, Inborn
Congenital Abnormalities
Eye Abnormalities
Lead sponsor: Editas Medicine, Inc.
Sponsor class: INDUSTRY
First posted: 2018-01-10
Enrollment: 26
Sex: ALL
Minimum age (years): 3
Maximum age (years): 99
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: The indication for this study is CEP290-related retinal degeneration caused by a compound heterozygous or homozygous intron 26 c.2991+1655A\>G mutation.

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.

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.

Primary outcomes:
measure: Characterize CEP290-related retinal degeneration
timeFrame: Through 12 months
Secondary outcomes:
Other outcomes:
Locations:
city: Miami
country: United States
facility: Bascom Palmer Eye Institute
state: Florida
city: Boston
country: United States
facility: Massachusetts Eye and Ear Infirmary
state: Massachusetts
city: Ann Arbor
country: United States
facility: W.K. Kellogg Eye Center
state: Michigan
city: Portland
country: United States
facility: Casey Eye Institute - OHSU
state: Oregon
city: Paris
country: France
facility: Universite Pierre et Marie Curie
city: Giessen
country: Germany
facility: Universitaetsklinikum Giessen and Marburg GmbH
city: Nijmegen
country: Netherlands
facility: Radboud Universitair Medisch Centrum
state: Gelderland
Study officials:
References: