Study of the Spermatic Characteristics of Patients With Fabry Disease
试验速览
- 阶段
- 不适用
- 状态
- 终止
- 发起方
- 入组人数
- 22
- 试验地点
- 1
- 主要终点
- volume (ml) of sperm
研究概览
简要总结
The objective of this project is to estimate the prevalence of spermatic abnormalities in patients with Fabry disease.The main objective of this project is to estimate the prevalence of spermatic abnormalities in patients with Fabry disease.
详细描述
Fabry disease is a lysosomal storage burden of X-linked genetic transmission due to alpha-galactosidase deficiency. This enzyme deficiency causes deposits of globotriaosylceramide in virtually all cell types of the body. The majority of hemizygous men develop a severe multisystemic disease dominated by renal failure, neurological and cardiac involvement. There is a specific treatment based on enzyme replacement therapy.
The incidence of Fabry disease is estimated between 1/60000 and 1/3500 in the general population.
Infertility in Fabry disease is poorly documented. Only a few cases have been reported, from alteration of spermogram to azoospermia. The identification of deposits suggestive of Gb3 in light microscopy and electron microscopy at the level of the genital tract argues in favor of the attack of this device. The low prevalence of Fabry disease requires a cross-sectional multicenter study to determine the frequency of alterations in sperm characteristics, their impact on fertility, and the possible effect of substitution therapy, in order to establish appropriate measures. adequate preventive measures.
The objective of this project is to estimate the prevalence of spermatic abnormalities in patients with Fabry disease.The main objective of this project is to estimate the prevalence of spermatic abnormalities in patients with Fabry disease.
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Diagnostic
- 盲法
- None
入排标准
- 年龄范围
- 18 Years 至 65 Years（Adult, Older Adult）
- 性别
- Male
- 接受健康志愿者
- 否
入选标准
- •male patients with Fabry disease regardless of the clinical form of the disease; treated with enzyme replacement therapy or not (from the initial diagnosis). The definite diagnosis of Fabry disease will be established on the deficit of the activity of alpha galactosidase A (<12%). A molecular genetic study is desirable but not mandatory,
- •patients aged 18 to 65,
- •giving their free and informed consent to participate, after information on the research.
排除标准
- •persons placed under the protection of justice,
- •unaffiliated or non-beneficiary subject of a social security scheme.
研究组 & 干预措施
Single arm
Men with Fabry Disease
干预措施: Semen collection (Procedure)
结局指标
主要结局
volume (ml) of sperm
时间窗: At Day 1
Spermogram characteristics
pH of sperm
时间窗: At Day 1
Spermogram characteristics
Count (million / ml) of spermatozoids
时间窗: At Day 1
Spermogram characteristics
Mobility (%) and mobility type of spermatozoa according to WHO classification of spermatozoids
时间窗: At Day 1
Spermogram characteristics
Total number of spermatozoa in one ejaculate
时间窗: At Day 1
Spermogram characteristics
Total number of progressive motile spermatozoa
时间窗: At Day 1
Spermogram characteristics
Existence of leukospermia yes/no
时间窗: At Day 1
Spermogram characteristics
% of typical forms of spermatozoids
时间窗: At Day 1
Characteristics of spermocytogram
Multiple Anomalies Index (MAI) of spermatozoids
时间窗: At Day 1
Characteristics of spermocytogram
次要结局
未报告次要终点