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Natural History Study of CEP290-Related Retinal Degeneration

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ClinicalTrials.gov Identifier: NCT03396042
Recruitment Status : Recruiting
First Posted : January 10, 2018
Last Update Posted : February 27, 2019
Sponsor:
Information provided by (Responsible Party):
Editas Medicine, Inc.

Study Description
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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
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
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Study Type : Observational
Estimated Enrollment : 40 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Natural History Study of CEP290-Related Retinal Degeneration
Actual Study Start Date : December 17, 2017
Estimated Primary Completion Date : August 31, 2019
Estimated Study Completion Date : August 31, 2019

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Groups and Cohorts
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Group/Cohort
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
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Primary Outcome Measures :
  1. Characterize CEP290-related retinal degeneration [ Time Frame: 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


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.

Eligibility Criteria
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Ages Eligible for Study:   3 Years to 99 Years   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
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.
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. Refer to Section 11.3.
  • Is at least 3 years of age at screening.
  • Has abnormally decreased vision, defined as having light perception to 20/60 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.
  • Must be able to successfully navigate the mobility courses at a level of difficulty that is below the maximum performance level (ie, below a passing score at 1) with each eye independently and both eyes together in the order specified by Investigator.

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).
  • 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
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Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03396042


Contacts
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Contact: Patient E-mail 617-401-9000 patients@editasmed.com

Locations
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United States, Florida
Bascom Palmer Eye Institute Recruiting
Miami, Florida, United States, 33136
Principal Investigator: Byron Lam         
United States, Massachusetts
Massachusetts Eye and Ear Infirmary Recruiting
Boston, Massachusetts, United States, 02114
Principal Investigator: Eric Pierce         
United States, Michigan
W.K. Kellogg Eye Center Recruiting
Ann Arbor, Michigan, United States, 48105
Principal Investigator: Thiran Jayasundera         
United States, Oregon
Casey Eye Institute - OHSU Recruiting
Portland, Oregon, United States, 97239
Principal Investigator: Mark Pennesi         
France
Universite Pierre et Marie Curie Recruiting
Paris, France, 75252
Contact: Isabel Audo         
Principal Investigator: Isabel Audo         
Germany
Universitaetsklinikum Giessen and Marburg GmbH Recruiting
Giessen, Germany, 35392
Principal Investigator: Birgit Lorenz         
Netherlands
Radboud Universitair Medisch Centrum Recruiting
Nijmegen, Gelderland, Netherlands, 6525
Principal Investigator: Carel Hoyng         
Sponsors and Collaborators
Editas Medicine, Inc.
Investigators
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Study Director: Gerald Cox, MD, PhD Editas Medicine, Inc.
More Information
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Responsible Party: Editas Medicine, Inc.
ClinicalTrials.gov Identifier: NCT03396042     History of Changes
Other Study ID Numbers: EDIT-NHS01
First Posted: January 10, 2018    Key Record Dates
Last Update Posted: February 27, 2019
Last Verified: February 2019
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No

Keywords provided by Editas Medicine, Inc.:
CEP290
Leber congenital amaurosis (LCA)
LCA10
Retinal degenerative diseases (RDD)

Additional relevant MeSH terms:
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Retinal Degeneration
Eye Diseases, Hereditary
Eye Diseases
Retinal Diseases