Natural History Study of CEP290-Related Retinal Degeneration

NCT03396042 | Completed

• 1 other identifier: EDIT-NHS01
• Study Type: observational
• Target: 26
• Locations: 4 countries
• Sites: 7

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.

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

Outcome Measures

Primary Outcomes (1)

• Characterize CEP290-related retinal degeneration

  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

  Through 12 months

Study Arms (8)

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

Eligibility Criteria

• Age: 3 Years - 99 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

• 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.

You may not qualify if:

• 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.

Sponsors & Collaborators

• Editas Medicine, Inc.: lead

Study Sites (7)

Bascom Palmer Eye Institute

Miami, Florida, 33136, United States

Location

Massachusetts Eye and Ear Infirmary

Boston, Massachusetts, 02114, United States

Location

W.K. Kellogg Eye Center

Ann Arbor, Michigan, 48105, United States

Location

Casey Eye Institute - OHSU

Portland, Oregon, 97239, United States

Location

Universite Pierre et Marie Curie

Paris, 75252, France

Location

Universitaetsklinikum Giessen and Marburg GmbH

Giessen, 35392, Germany

Location

Radboud Universitair Medisch Centrum

Nijmegen, Gelderland, 6525, Netherlands

Location

Biospecimen

Retention: SAMPLES WITH DNA

Blood sampling for genetic testing of the CEP290 gene, including coding and intron 26 sequences, as part of a 280-gene retinal dystrophy gene panel.

MeSH Terms

Conditions

Blindness; Leber Congenital Amaurosis 10; Vision Disorders; Eye Diseases; Eye Diseases, Hereditary; Eye Abnormalities; Retinal Diseases; Retinal Degeneration; Meckel Syndrome, Type 4; Leber Congenital Amaurosis; Genetic Diseases, Inborn; Congenital Abnormalities

Condition Hierarchy (Ancestors)

Sensation Disorders; Neurologic Manifestations; Nervous System Diseases; Signs and Symptoms; Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: December 4, 2017
• First Posted: January 10, 2018
• Study Start: December 17, 2017
• Primary Completion: May 6, 2022
• Study Completion: May 6, 2022
• Last Updated: May 19, 2022

Record last verified: 2022-05

Data Sharing

• IPD Sharing: Will not share

Locations

FR (1); NL (1); DE (1); US (4)