atural History Study of CEP290-Related Retinal Degeneratio

Recruitment & Eligibility

Status: Completed

Sex: Not specified

Target Recruitment: 4

Inclusion Criteria

1. pariticipants and/or parent/legal guardian must complete/sign an informed
consent form (ICF). If
required on a per participants 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;
2. Male or female participants >=6 years of age at Screening;
3. Has abnormally decreased vision, defined as having light perception to 20/50
best-corrected visual acuity (BCVA) in
each eye, with examination and test results consistent with an inherited
retinal degeneration
due to mutations in the CEP290 gene;
4. 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;
5. Has ability to cooperate with assessments relative to age;
6. 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; and
7. For females of childbearing potential: is not pregnant as confirmed by a
negative urine pregnancy test at Screening and is not planning to become
pregnant during the course of the study.

Exclusion Criteria

1. 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);
2. 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);
3. 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;
4. Is currently receiving gene therapy and/or has received gene therapy or
oligonucleotide therapeutics;
5. 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.
6. For females of childbearing potential: is pregnant (or planning to become
pregnant) or breastfeeding.

Study & Design

Study Type: Observational non invasive

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>The feasibility, test/retest variability, and changes over time of key<br /><br>assessments in participants with CEP290-related retinal degeneration.<br /><br>Whether the Visual Function Navigation Test as a clinically meaningful endpoint<br /><br>of functional vision in participants with CEP290-related retinal degeneration.</p><br>

Secondary Outcome Measures

Name	Time	Method
<p>CEP290-related retinal degeneration and the clinical phenotype of participants<br /><br>with light perception to 20/50 visual acuity and with either compound<br /><br>heterozygous or homozygous intron 26 c.2991+1655A>G mutations</p><br>