NCT04073888

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.

Trial Health

100
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
22

participants targeted

Target at below P25 for not_applicable

Timeline
Completed

Started Feb 2009

Longer than P75 for not_applicable

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

February 20, 2009

Completed
4.7 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

October 18, 2013

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

October 18, 2013

Completed
5.8 years until next milestone

First Submitted

Initial submission to the registry

August 23, 2019

Completed
6 days until next milestone

First Posted

Study publicly available on registry

August 29, 2019

Completed
Last Updated

August 29, 2019

Status Verified

August 1, 2019

Enrollment Period

4.7 years

First QC Date

August 23, 2019

Last Update Submit

August 27, 2019

Conditions

Fabry Disease

Outcome Measures

Primary Outcomes (9)

  • 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

    Characteristics of spermocytogram

    At Day 1

Study Arms (1)

Single arm

OTHER

Men with Fabry Disease

Procedure: Semen collection

Interventions

Semen collectionPROCEDURE

Semen collection for seminogram and spermocytogram

Single arm

Eligibility Criteria

Age18 Years - 65 Years
Sexmale(Gender-based eligibility)
Gender Eligibility DetailsSemen collection
Healthy VolunteersNo
Age GroupsAdult (18-64), Older Adult (65+)

You may qualify if:

  • 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.

You may not qualify if:

  • persons placed under the protection of justice,
  • unaffiliated or non-beneficiary subject of a social security scheme.

Contact the study team to confirm eligibility.

Sponsors & Collaborators

MeSH Terms

Conditions

Fabry Disease

Condition Hierarchy (Ancestors)

SphingolipidosesLysosomal Storage Diseases, Nervous SystemBrain Diseases, Metabolic, InbornBrain Diseases, MetabolicBrain DiseasesCentral Nervous System DiseasesNervous System DiseasesCerebral Small Vessel DiseasesCerebrovascular DisordersVascular DiseasesCardiovascular DiseasesGenetic Diseases, X-LinkedGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesMetabolism, Inborn ErrorsLipidosesLipid Metabolism, Inborn ErrorsLysosomal Storage DiseasesMetabolic DiseasesNutritional and Metabolic DiseasesLipid Metabolism Disorders

Study Officials

  • Alice PAPAXANTHOS, Dr

    University Hospital, Bordeaux

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
interventional
Phase
not applicable
Allocation
NA
Masking
NONE
Purpose
DIAGNOSTIC
Intervention Model
SINGLE GROUP
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

August 23, 2019

First Posted

August 29, 2019

Study Start

February 20, 2009

Primary Completion

October 18, 2013

Study Completion

October 18, 2013

Last Updated

August 29, 2019

Record last verified: 2019-08

Data Sharing

IPD Sharing
Will not share