Proteomic Study of Tears From Patients With a PAX6 Mutation
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 5
- 试验地点
- 1
- 主要终点
- Proteomic profile of tears associated with different pathogenic variations of the PAX6 gene.
研究概览
简要总结
This is a single-center prospective pilot study involving the ophthalmology and medical genetics departments of the Montpellier University Hospital, and the proteomics platform of the Montpellier University Hospital.
5 patients with PAX6 pathogenic variation will be included in order to determine the proteomic profile in a tear sample associated with different pathogenic variations of the PAX6 gene.
Participation in the study for the patients consists of a single visit with an ophthalmological examination and a tear collection.
详细描述
The transcription factor PAX6 is required for the normal development of all elements constituting the eyeball, including the lacrimal gland.
In patients with PAX6 gene mutations, the cornea presents a limbal anomaly that has been evolving since childhood and is responsible for variable damage. It evolves from a simple peripheral keratopathy to an advanced stage with complete corneal opacification and fibrosis. Chronic inflammation, associated with tear film damage is very common and promotes keratopathy. The current treatment of dry eye in patients with ocular malformation related to a PAX6 mutation is non specific: it aims to palliate the quantitative tear defect and uses tear substitutes, cyclosporine eye drops, meatus plugs, scleral lenses.
The identification of specific qualitative abnormalities constitutes the indispensable preliminary step necessary in order to be able to consider in the long term an adapted treatment, of tear protein supplementation, aiming at preserving the cornea of patients with an ocular malformation related to a PAX6 gene mutation.
In this study, patients will be recruited from the active file of patients and patients previously treated in the ophthalmology or medical genetics departments of Montpellier University Hospital for an ocular malformation related to a PAX6 mutation.
Participation in the study will consist of a single visit of up to 3 hours.
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Other
- 盲法
- None
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Patients with an isolated pathogenic variation of PAX6
- •Age: 18-60 years
- •Subject affiliated to a French social security system or beneficiary of such a system
- •Written consent given by the subject
排除标准
- •Ophthalmologic procedure less than 3 months old
- •Chromosomal abnormality not limited to the PAX6 gene
- •Being under court protection, guardianship or curatorship
- •To be deprived of liberty by administrative decision
- •Be in a period of exclusion in relation to another protocol
- •Pregnant or breastfeeding woman
结局指标
主要结局
Proteomic profile of tears associated with different pathogenic variations of the PAX6 gene.
时间窗: Through study completion, an average of 18 months
Proteomic profile (quantitative and qualitative analysis of global protein expression after gel prefractionation) of tears associated with different pathogenic variations of the PAX6 gene.
次要结局
- Types of changes relative to the previously established reference tear profile range.(Through study completion, an average of 18 months)