Natural History Study of CEP290-Related Retinal Degeneration (NCT03396042) | Clinical Trial Compass
CompletedNot Applicable
Natural History Study of CEP290-Related Retinal Degeneration
United States, France26 participantsStarted 2017-12-17
Plain-language 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.
Who can participate
Age range3 Years – 99 Years
SexALL
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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, …