Study of the Spermatic Characteristics of Patients With F... | NCT04073888

Studies
Study of the Spermatic Characteristics of Patients With Fabry Disease

NCT04073888

Sponsor

University Hospital, Bordeaux

Status

Terminated

Last Update Posted

Jun 18, 2026Actual

Enrollment

22Actual

Phase

Not Applicable

Conditions

Fabry Disease

Interventions

Semen collection

Countries

France

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

ID	Type	Description	Link
2008-A01307-48	Other Identifier	ANSM

Status Module

Record Verification Date

Aug 2019

Overall Recruitment Status or Expanded Access Status

Terminated

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

target number of subjects not reached

Expanded Access Info

Start Date

Feb 20, 2009Actual

Primary Completion Date

Oct 18, 2013Actual

Completion Date

Oct 18, 2013Actual

First Submitted Date

Aug 23, 2019

First Submission Date that Met QC Criteria

Aug 27, 2019

First Posted Date

Aug 29, 2019Actual

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Jun 16, 2026

Last Update Posted Date

Jun 18, 2026Actual

Oversight Module

Has Data Monitoring Committee (DMC)

Is FDA Regulated Drug

Is FDA Regulated Device

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

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.

Design Module

Study Type

Interventional

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Not provided

Target Follow-Up Duration

Not provided

Phases

Not Applicable

Interventional Study Design

Allocation

Biospecimen

No data available

No data is available for this block.

Enrollment

22Actual

Arms/Interventions Module

Arm Groups

Label	Type	Description	Intervention Names
Single arm	Other	Men with Fabry Disease	Procedure: Semen collection

Interventions

Name	Type	Description	Arm Group Labels	Other Names
Semen collection	Procedure	Semen collection for seminogram and spermocytogram	Single arm

Outcomes Module

Primary Outcomes

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

Secondary Outcomes

Not provided

Other Outcomes

Not provided

Eligibility Module

Eligibility Criteria

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.

Accepts Healthy Volunteers

Sex

Male

Sex/Gender Based

Yes

Sex/Gender Description

Semen collection

Minimum Age

18 Years

Maximum Age

65 Years

Standard Ages

AdultOlder Adult

Study Population

Not provided

Sampling Method

Not provided

Contacts/Locations Module

Central Contacts

Not provided

Overall Officials

Name	Affiliation	Role
Alice PAPAXANTHOS, Dr	University Hospital, Bordeaux	Principal Investigator

Locations

Facility	Status	City	State	ZIP	Country	Contacts
CHU de Bordeaux		Bordeaux		33000	France

IPD Sharing Statement Module

Plan to Share IPD

Description

Not provided

Types

Not provided

Time Frame

Not provided

Access Criteria

Not provided

URL

Not provided

Condition Browse Module

MeSH Terms

ID	Term
D000795	Fabry Disease

Ancestor Terms

ID	Term
D013106	Sphingolipidoses
D020140	Lysosomal Storage Diseases, Nervous System
D020739	Brain Diseases, Metabolic, Inborn
D001928	Brain Diseases, Metabolic

Browse Leaves

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Browse Branches

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