Natural History Study of CEP290-Related Retinal Degeneration

Description

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.

Study Start Date

December, 21 2017

Estimated Completion Date

August 2019

Interventions

No interventions cited

Study ID

Editas Medicine, Inc. -- EDIT-NHS01

Status

Recruiting

Trial ID

NCT03396042

Study Type

Observational

Trial Phase

N/A

Enrollment Quota

40

Sponsor

Editas Medicine, Inc.

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.

Gender

All

Ages

3 Years to 99 Years

Accepts Healthy Volunteers

No

Study Locations and Contact Information (1)

Study Location Distance Name Phone Email
Massachusetts Eye and Ear Infirmary - Boston, Massachusetts 2.8 miles None None None

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