- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT04073888
Study of the Spermatic Characteristics of Patients With Fabry Disease (FERTIFABRY)
Study Overview
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
Enrollment (Actual)
Phase
- Not Applicable
Participation Criteria
Eligibility Criteria
Ages Eligible for Study
Accepts Healthy Volunteers
Genders Eligible for Study
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
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
Sponsor
Investigators
- Principal Investigator: Alice PAPAXANTHOS, Dr, University Hospital, Bordeaux
Study record dates
Study Major Dates
Study Start (Actual)
Primary Completion (Actual)
Study Completion (Actual)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Actual)
Study Record Updates
Last Update Posted (Actual)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Additional Relevant MeSH Terms
- Cardiovascular Diseases
- Vascular Diseases
- Metabolic Diseases
- Cerebrovascular Disorders
- Brain Diseases
- Central Nervous System Diseases
- Nervous System Diseases
- Genetic Diseases, Inborn
- Genetic Diseases, X-Linked
- Metabolism, Inborn Errors
- Lysosomal Storage Diseases
- Lipid Metabolism Disorders
- Brain Diseases, Metabolic
- Brain Diseases, Metabolic, Inborn
- Sphingolipidoses
- Lysosomal Storage Diseases, Nervous System
- Cerebral Small Vessel Diseases
- Lipidoses
- Lipid Metabolism, Inborn Errors
- Fabry Disease
Other Study ID Numbers
- CHUBX 2008/14
Plan for Individual participant data (IPD)
Plan to Share Individual Participant Data (IPD)?
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
Studies a U.S. FDA-regulated device product
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.
Clinical Trials on Fabry Disease
-
CENTOGENE GmbH RostockCompletedFabry Disease | Anderson-Fabry Disease | Fabry´s DiseaseArgentina, Belgium, Croatia, Czechia, Denmark, France, Germany, United Kingdom
-
Wuerzburg University HospitalTakedaEnrolling by invitationLysosomal Storage Diseases | Fabry Disease | Fabry Disease, Cardiac Variant | HCM - Hypertrophic Cardiomyopathy | Anderson Fabry DiseaseGermany
-
University Hospital, RouenUnknownAnderson-Fabry DiseaseFrance
-
Sangamo TherapeuticsEnrolling by invitationFabry Disease | Fabry Disease, Cardiac VariantUnited States, United Kingdom
-
Amicus Therapeutics France SASActive, not recruitingFabry Disease | Anderson Fabry DiseaseFrance
-
Academisch Medisch Centrum - Universiteit van Amsterdam...RecruitingFabry Disease | Fabry Disease, Cardiac VariantNetherlands
-
Taipei Veterans General Hospital, TaiwanSanofiUnknownFabry Disease, Cardiac Variant
-
University of CambridgeSanofiRecruiting
-
Shaare Zedek Medical CenterJohannes Gutenberg University MainzCompleted
-
Wolfson Medical CenterUnknownFabry Disease in the Young StrokeIsrael
Clinical Trials on Semen collection
-
University of PittsburghRecruiting
-
Weill Medical College of Cornell UniversityRecruiting
-
University Hospital, RouenUnknownTeratozoospermiaFrance
-
University of Wisconsin, MadisonTerminatedInflammatory Bowel Disease (IBD)United States
-
Trinidad and Tobago IVF and Fertility CentreInstitute of Tropical Medicine, BelgiumCompletedZika VirusTrinidad and Tobago
-
University of California, San FranciscoRecruitingHealthy | Fertility Disorders | Male Infertility | Infertility, MaleUnited States
-
Reproductive & Genetic Hospital of CITIC-XiangyaCompletedSperm Count, Low | Reproductive SterilityChina
-
University of FloridaCompleted
-
Assiut UniversityUnknownAzoospermia, Nonobstructive