Fabry DiseaseFERTIFABRYNCT04073888
Study of the Spermatic Characteristics of Patients With Fabry Disease
A study testing Semen collection in people with Fabry Disease, run by University Hospital, Bordeaux at 1 site in France.
Trial 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. Read more about this study
- Who is it for?
- Ages 18 to 65 years, men only
- Conditions the study is for
- Fabry Disease
- What is being tested?
- Semen collection
- Type of treatment
- Surgery or procedure
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 22 participants
- Where
- 1 siteFrance
- Study dates
- 20 Feb 2009to 18 Oct 2013
- Phase
- Interventional
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 to 65 years
- Men only
- No healthy volunteers
- Adult, Older adult
Who may be able to join
- 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.
Who cannot join
- persons placed under the protection of justice,
- unaffiliated or non-beneficiary subject of a social security scheme.
Trial locations and contacts
1 site in 1 country.
About this study
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.
Read the 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.
- Conditions
- Fabry Disease
- Being tested
- Semen collection
- Medical subject headings
- Fabry Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Semen collectionProcedure or surgery
Semen collection for seminogram and spermocytogram
| Study group | Role | What they receive |
|---|---|---|
| Single arm | Other | Men with Fabry Disease Receives: Procedure: Semen collection |
What is being measured
The primary outcome is the main question the study is designed to answer.
volume (ml) of sperm
Spermogram characteristics
Measured: At Day 1
pH of sperm
Spermogram characteristics
Measured: At Day 1
Count (million / ml) of spermatozoids
Spermogram characteristics
Measured: At Day 1
Mobility (%) and mobility type of spermatozoa according to WHO classification of spermatozoids
Spermogram characteristics
Measured: At Day 1
Total number of spermatozoa in one ejaculate
Spermogram characteristics
Measured: At Day 1
Total number of progressive motile spermatozoa
Spermogram characteristics
Measured: At Day 1
Existence of leukospermia yes/no
Spermogram characteristics
Measured: At Day 1
% of typical forms of spermatozoids
Characteristics of spermocytogram
Measured: At Day 1
Multiple Anomalies Index (MAI) of spermatozoids
Characteristics of spermocytogram
Measured: At Day 1
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted29 Aug 2019
- Study start20 Feb 2009
- Primary completion18 Oct 2013
- Study completion18 Oct 2013
Why it stopped: target number of subjects not reached
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Fabry DiseaseStudies of the same condition, open and under way.
- More trials run by University Hospital, BordeauxThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 22 participants (actual)
Sponsor and investigators
- Lead sponsor
- University Hospital, Bordeaux
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Alice PAPAXANTHOS, Dr, Principal investigator, University Hospital, Bordeaux
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04073888
- Sponsor's protocol ID
- CHUBX 2008/14
- Other IDs
- 2008-A01307-48
- Acronym
- FERTIFABRY
- Status last verified
- Aug 2019
- First submitted
- 23 Aug 2019
- Last updated
- 18 Jun 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 18 Jun 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Study of the Spermatic Characteristics of Patients With Fabry Disease
- ClinicalTrials.gov ID
- NCT04073888
- Acronym / sponsor ID
- FERTIFABRY / CHUBX 2008/14
- Conditions
- Fabry Disease
- Study type
- Interventional
- Recruitment status
- TerminatedReason stopped: target number of subjects not reached
- Enrolment
- 22 participants (actual)
- Lead sponsor
- University Hospital, BordeauxUniversity, hospital or other
- Study start
- 20 Feb 2009 (actual)
- Primary completion
- 18 Oct 2013 (actual)
- Study completion
- 18 Oct 2013 (actual)
- First posted
- 29 Aug 2019 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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 design
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Single arm | Other | Procedure: Semen collectionMen with Fabry Disease |
Who may qualify
- Ages
- 18 to 65 years
- Sex
- Male only
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (3 listed)
- 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.
Key exclusion criteria (2 listed)
- persons placed under the protection of justice,
- unaffiliated or non-beneficiary subject of a social security scheme.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Semen collectionSemen collection for seminogram and spermocytogram | Procedure or surgery | Single arm |
Primary outcome
volume (ml) of sperm
Time frame: At Day 1
Spermogram characteristics
pH of sperm
Time frame: At Day 1
Spermogram characteristics
Count (million / ml) of spermatozoids
Time frame: At Day 1
Spermogram characteristics
Mobility (%) and mobility type of spermatozoa according to WHO classification of spermatozoids
Time frame: At Day 1
Spermogram characteristics
Total number of spermatozoa in one ejaculate
Time frame: At Day 1
Spermogram characteristics
Total number of progressive motile spermatozoa
Time frame: At Day 1
Spermogram characteristics
Existence of leukospermia yes/no
Time frame: At Day 1
Spermogram characteristics
% of typical forms of spermatozoids
Time frame: At Day 1
Characteristics of spermocytogram
Multiple Anomalies Index (MAI) of spermatozoids
Time frame: At Day 1
Characteristics of spermocytogram
Results and safety
The study was stopped early (reason given: target number of subjects not reached). Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 18 Jun 2026.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Alice PAPAXANTHOS, Dr principal investigator
University Hospital, Bordeaux
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Semen collection in people with Fabry Disease, run by University Hospital, Bordeaux at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: stopped early, as of the sponsor's last update on 18 Jun 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study was stopped early (reason given: target number of subjects not reached). Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
volume (ml) of sperm (time frame: At Day 1). The study lists 9 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 18 Jun 2026.