Study of the Spermatic Characteristics of Patients With Fabry Disease (FERTIFABRY)
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|ClinicalTrials.gov Identifier: NCT04073888|
Recruitment Status : Completed
First Posted : August 29, 2019
Last Update Posted : August 29, 2019
|Condition or disease||Intervention/treatment||Phase|
|Fabry Disease||Procedure: Semen collection||Not Applicable|
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.
|Study Type :||Interventional (Clinical Trial)|
|Actual Enrollment :||22 participants|
|Intervention Model:||Single Group Assignment|
|Masking:||None (Open Label)|
|Official Title:||Study of the Spermatic Characteristics of Patients With Fabry Disease|
|Actual Study Start Date :||February 20, 2009|
|Actual Primary Completion Date :||October 18, 2013|
|Actual Study Completion Date :||October 18, 2013|
Men with Fabry Disease
Procedure: Semen collection
Semen collection for seminogram and spermocytogram
- volume (ml) of sperm [ Time Frame: At Day 1 ]Spermogram characteristics
- pH of sperm [ Time Frame: At Day 1 ]Spermogram characteristics
- Count (million / ml) of spermatozoids [ Time Frame: At Day 1 ]Spermogram characteristics
- Mobility (%) and mobility type of spermatozoa according to WHO classification of spermatozoids [ Time Frame: At Day 1 ]Spermogram characteristics
- Total number of spermatozoa in one ejaculate [ Time Frame: At Day 1 ]Spermogram characteristics
- Total number of progressive motile spermatozoa [ Time Frame: At Day 1 ]Spermogram characteristics
- Existence of leukospermia yes/no [ Time Frame: At Day 1 ]Spermogram characteristics
- % of typical forms of spermatozoids [ Time Frame: At Day 1 ]Characteristics of spermocytogram
- Multiple Anomalies Index (MAI) of spermatozoids [ Time Frame: At Day 1 ]Characteristics of spermocytogram
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04073888
|Principal Investigator:||Alice PAPAXANTHOS, Dr||University Hospital, Bordeaux|