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Trial record 9 of 154 for:    "Fabry disease"

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

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ClinicalTrials.gov Identifier: NCT04073888
Recruitment Status : Completed
First Posted : August 29, 2019
Last Update Posted : August 29, 2019
Sponsor:
Information provided by (Responsible Party):
University Hospital, Bordeaux

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.

Condition or disease Intervention/treatment Phase
Fabry Disease Procedure: Semen collection Not Applicable

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.


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Study Type : Interventional  (Clinical Trial)
Actual Enrollment : 22 participants
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Diagnostic
Official Title: Study of the Spermatic Characteristics of Patients With Fabry Disease
Actual Study Start Date : February 20, 2009
Actual Primary Completion Date : October 18, 2013
Actual Study Completion Date : October 18, 2013

Resource links provided by the National Library of Medicine


Arm Intervention/treatment
Single arm
Men with Fabry Disease
Procedure: Semen collection
Semen collection for seminogram and spermocytogram




Primary Outcome Measures :
  1. volume (ml) of sperm [ Time Frame: At Day 1 ]
    Spermogram characteristics

  2. pH of sperm [ Time Frame: At Day 1 ]
    Spermogram characteristics

  3. Count (million / ml) of spermatozoids [ Time Frame: At Day 1 ]
    Spermogram characteristics

  4. Mobility (%) and mobility type of spermatozoa according to WHO classification of spermatozoids [ Time Frame: At Day 1 ]
    Spermogram characteristics

  5. Total number of spermatozoa in one ejaculate [ Time Frame: At Day 1 ]
    Spermogram characteristics

  6. Total number of progressive motile spermatozoa [ Time Frame: At Day 1 ]
    Spermogram characteristics

  7. Existence of leukospermia yes/no [ Time Frame: At Day 1 ]
    Spermogram characteristics

  8. % of typical forms of spermatozoids [ Time Frame: At Day 1 ]
    Characteristics of spermocytogram

  9. Multiple Anomalies Index (MAI) of spermatozoids [ Time Frame: At Day 1 ]
    Characteristics of spermocytogram



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Ages Eligible for Study:   18 Years to 65 Years   (Adult, Older Adult)
Sexes Eligible for Study:   Male
Gender Based Eligibility:   Yes
Gender Eligibility Description:   Semen collection
Accepts Healthy Volunteers:   No
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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04073888


Sponsors and Collaborators
University Hospital, Bordeaux
Investigators
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Principal Investigator: Alice PAPAXANTHOS, Dr University Hospital, Bordeaux

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Responsible Party: University Hospital, Bordeaux
ClinicalTrials.gov Identifier: NCT04073888     History of Changes
Other Study ID Numbers: CHUBX 2008/14
First Posted: August 29, 2019    Key Record Dates
Last Update Posted: August 29, 2019
Last Verified: August 2019
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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Fabry Disease
Sphingolipidoses
Lysosomal Storage Diseases, Nervous System
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Cerebral Small Vessel Diseases
Cerebrovascular Disorders
Vascular Diseases
Cardiovascular Diseases
Genetic Diseases, X-Linked
Genetic Diseases, Inborn
Metabolism, Inborn Errors
Lipidoses
Lipid Metabolism, Inborn Errors
Lysosomal Storage Diseases
Metabolic Diseases
Lipid Metabolism Disorders