Natural History Study of CEP290-Related Retinal Degeneration

Eye Diseases Clinical Trial

Official title:

Natural History Study of CEP290-Related Retinal Degeneration

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT03396042
• Other study ID #: EDIT-NHS01
• Status: Completed
• Start date: December 17, 2017
• Est. completion date: May 6, 2022

Study information

• Verified date: May 2022
• Source: Editas Medicine, Inc.
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 26
• Est. completion date: May 6, 2022
• Est. primary completion date: May 6, 2022
• Accepts healthy volunteers: No
• Gender: All
• Age group: 3 Years to 99 Years

Eligibility

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.

Related Conditions & MeSH terms

• Blindness
• Disease
• Eye Abnormalities
• Eye Diseases
• Eye Diseases, Hereditary
• Eye Disorders Congenital
• Genetic Diseases, Inborn
• Leber Congenital Amaurosis
• Leber Congenital Amaurosis 10
• Retinal Degeneration
• Retinal Disease
• Retinal Diseases
• Vision Disorders

Locations

Country	Name	City	State
France	Universite Pierre et Marie Curie	Paris
Germany	Universitaetsklinikum Giessen and Marburg GmbH	Giessen
Netherlands	Radboud Universitair Medisch Centrum	Nijmegen	Gelderland
United States	W.K. Kellogg Eye Center	Ann Arbor	Michigan
United States	Massachusetts Eye and Ear Infirmary	Boston	Massachusetts
United States	Bascom Palmer Eye Institute	Miami	Florida
United States	Casey Eye Institute - OHSU	Portland	Oregon

Sponsors (1)

Lead Sponsor	Collaborator
Editas Medicine, Inc.

Countries where clinical trial is conducted

United States,  France,  Germany,  Netherlands, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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