Natural History Study of CEP290-Related Retinal Degeneration
关键词
抽象
描述
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.
日期
最后验证: | 06/30/2020 |
首次提交: | 12/03/2017 |
提交的预估入学人数: | 01/03/2018 |
首次发布: | 01/09/2018 |
上次提交的更新: | 07/01/2020 |
最近更新发布: | 07/06/2020 |
实际学习开始日期: | 12/16/2017 |
预计主要完成日期: | 12/30/2020 |
预计完成日期: | 12/30/2020 |
状况或疾病
相
手臂组
臂 | 干预/治疗 |
---|---|
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 |
资格标准
有资格学习的年龄 | 3 Years 至 3 Years |
有资格学习的性别 | All |
取样方式 | Non-Probability Sample |
接受健康志愿者 | 是 |
标准 | 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 20/50 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. - 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. |
结果
主要结果指标
1. Characterize CEP290-related retinal degeneration [Through 12 months]