Fabry Disease
Conditions
Brief summary
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.
Detailed description
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.
Interventions
PROCEDURESemen collection
Semen collection for seminogram and spermocytogram
Sponsors
University Hospital, Bordeaux
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
DIAGNOSTIC
Masking
NONE
Eligibility
Sex/Gender
MALE
Age
18 Years to 65 Years
Healthy volunteers
No
Inclusion criteria
* 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.
Exclusion criteria
* persons placed under the protection of justice, * unaffiliated or non-beneficiary subject of a social security scheme.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| volume (ml) of sperm | At Day 1 | Spermogram characteristics |
| pH of sperm | At Day 1 | Spermogram characteristics |
| Count (million / ml) of spermatozoids | At Day 1 | Spermogram characteristics |
| Mobility (%) and mobility type of spermatozoa according to WHO classification of spermatozoids | At Day 1 | Spermogram characteristics |
| Total number of spermatozoa in one ejaculate | At Day 1 | Spermogram characteristics |
| Total number of progressive motile spermatozoa | At Day 1 | Spermogram characteristics |
| Existence of leukospermia yes/no | At Day 1 | Spermogram characteristics |
| % of typical forms of spermatozoids | At Day 1 | Characteristics of spermocytogram |
| Multiple Anomalies Index (MAI) of spermatozoids | At Day 1 | Characteristics of spermocytogram |
Countries
France
Contacts
PRINCIPAL_INVESTIGATORAlice PAPAXANTHOS, Dr
University Hospital, Bordeaux
Outcome results
None listed