NCT02970266已完成不适用
Genetic Decryption of Leber Congenital Amaurosis (LCA) in a Large Cohort of Independent Families: Establishment of Genotype-phenotype Correlations and Updating the Clinical Definition of This Retinal Dystrophy
适应症
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 659
- 试验地点
- 1
- 主要终点
- Improve genetic counseling by establishment of prevalences of each of genetic subtypes within a expanded population of patients with LCA.
研究概览
简要总结
The main objectives of this study are:
- Improve genetic counseling by establishment of prevalences of each of genetic subtypes within a expanded population of patients with LCA taking into account ethnicity of families.
- Confirm, refine or modify the genotype-phenotype correlations.
- Edit important recommendations for:
- The clinical and paraclinical exploration of a new patient based on genotype, especially for extraocular explorations, to book at certain genetic subtypes
- Prenatal care of a couple.
- Directing families to a therapeutic protocol in progress or in development.
- Individualize a panel of families without a mutation in the known genes and identify new genes responsible.
详细描述
This study characterize the clinical history of the disease (age and start mode of visual disturbances, rate and mode of progress of disease), careful assessment of retina function and finally, in search of the mutations responsible for this condition.
A full ophthalmic check-up, one at the inclusion and 24 months :
-
- A genetic consultation taking account of family history and establishment of family tree with precision of geographical origin of birth of ascendants.
-
- A thorough ophthalmologic examination by a referring medical ophthalmologist, including:
2.1 - An interrogation on the development of the visual awakening since the birth and its possible disturbances.
2.2 - The search for abnormal movements of the eyeballs, and difficulties with regard to different lighting.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Retrospective
入排标准
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Patients of all ages
- •Patients with symptoms the day of the first consultation allowing to ask the diagnosis of leber congenital amaurosis.
- •Are affiliated to a social health care.
- •Written informed consent must be given by patients or holders parental authority for minors.
- •patients and siblings:
- •Signed consent for molecular study by the participant or by holders parental authority for minors.
- •Are affiliated to a social health care.
排除标准
- •Patients whose exploration has laid differential diagnoses.
- •Patients refusing the visits provided for in Protocol.
结局指标
主要结局
Improve genetic counseling by establishment of prevalences of each of genetic subtypes within a expanded population of patients with LCA.
时间窗: 24 MONTHS
次要结局
- Measurement of visual acuity using Early Treatment Diabetic Retinopathy Study scale (ETDRS) for far vision(24 MONTHS)
- Visual field evaluation Survey(24 MONTHS)
- Test the color vision deficiency using the " Farnsworth test" in adults and children after the age of 6.(24 MONTHS)
- The "Parinaud Scale" for near vision (After the age of 6)(24 MONTHS)
- The visual field test using the Goldman dome in adults and children aged 6 to 7.(24 MONTHS)
- Electrophysiological examination using Electroretinogram.(24 MONTHS)
- Measurement of visual acuity using the logarithmic scale for children under 5(24 MONTHS)
- Measurement of refraction by portable automatic refractometer.(24 MONTHS)
- Screening for color vision abnormalities using "children's boards" of "Ishihara Test" from the age of 3-4.(24 MONTHS)
- Screening for color vision abnormalities using "regular boards" as soon as learning to read figures from the age of five.(24 MONTHS)
研究者
研究点 (1)
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