Study of the Spermatic Characteristics of Patients With Fabry Disease

Fabry Disease Clinical Trial

— FERTIFABRY  

Official title:

Study of the Spermatic Characteristics of Patients With Fabry Disease

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT04073888
• Other study ID #: CHUBX 2008/14
• Status: Completed
• Phase: N/A
• Start date: February 20, 2009
• Est. completion date: October 18, 2013

Study information

• Verified date: August 2019
• Source: University Hospital, Bordeaux
• Contact: n/a
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 22
• Est. completion date: October 18, 2013
• Est. primary completion date: October 18, 2013
• Accepts healthy volunteers: No
• Gender: Male
• Age group: 18 Years to 65 Years

Eligibility

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.

Related Conditions & MeSH terms

• Fabry Disease

Intervention

Procedure:
• Semen collection
Semen collection for seminogram and spermocytogram

Locations

Country	Name	City	State
n/a

Sponsors (1)

Lead Sponsor	Collaborator
University Hospital, Bordeaux

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	volume (ml) of sperm	Spermogram characteristics	At Day 1
Primary	pH of sperm	Spermogram characteristics	At Day 1
Primary	Count (million / ml) of spermatozoids	Spermogram characteristics	At Day 1
Primary	Mobility (%) and mobility type of spermatozoa according to WHO classification of spermatozoids	Spermogram characteristics	At Day 1
Primary	Total number of spermatozoa in one ejaculate	Spermogram characteristics	At Day 1
Primary	Total number of progressive motile spermatozoa	Spermogram characteristics	At Day 1
Primary	Existence of leukospermia yes/no	Spermogram characteristics	At Day 1
Primary	% of typical forms of spermatozoids	Characteristics of spermocytogram	At Day 1
Primary	Multiple Anomalies Index (MAI) of spermatozoids	Characteristics of spermocytogram	At Day 1