Study of the Spermatic Characteristics of Patients With Fabry Disease (FERTIFABRY)

August 27, 2019 updated by: University Hospital, Bordeaux
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 Overview

Status

Completed

Conditions

Intervention / Treatment

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.

Study Type

Interventional

Enrollment (Actual)

22

Phase

  • Not Applicable

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

16 years to 63 years (Adult, Older Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

Male

Description

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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: Diagnostic
  • Allocation: N/A
  • Interventional Model: Single Group Assignment
  • Masking: None (Open Label)

Arms and Interventions

Participant Group / Arm
Intervention / Treatment
Other: Single arm
Men with Fabry Disease
Semen collection for seminogram and spermocytogram

What is the study measuring?

Primary Outcome Measures

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

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Investigators

  • Principal Investigator: Alice PAPAXANTHOS, Dr, University Hospital, Bordeaux

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

February 20, 2009

Primary Completion (Actual)

October 18, 2013

Study Completion (Actual)

October 18, 2013

Study Registration Dates

First Submitted

August 23, 2019

First Submitted That Met QC Criteria

August 27, 2019

First Posted (Actual)

August 29, 2019

Study Record Updates

Last Update Posted (Actual)

August 29, 2019

Last Update Submitted That Met QC Criteria

August 27, 2019

Last Verified

August 1, 2019

More Information

Terms related to this study

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

No

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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