Fabry DiseasePhase 2NCT00196716
A Study of the Safety and Efficacy of Fabrazyme in Patients With Fabry Disease
A Phase 2 study testing Fabrazyme (agalsidase beta) in people with Fabry Disease, run by Genzyme, a Sanofi Company at 4 sites in 4 countries.
Trial summary
People with Fabry disease have an alteration in their genetic material (DNA) which causes a deficiency of the alpha-galactosidase A enzyme. This enzyme helps to break down and remove certain types of fatty substances called "glycolipids." These glycolipids are normally present within the body in most cells. Read more about this study
- Who is it for?
- Ages 16 years and older, men only
- Conditions the study is for
- Fabry Disease
- What is being tested?
- Fabrazyme (agalsidase beta)
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 21 participants
- Where
- 4 sitesin 4 countries
- Study dates
- Jun 2003to Mar 2007
- Phase
- Phase 2
- Are there results?
- Yes, posted in the registrySummary in the doctors' view
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 16 years and older
- Men only
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- Have clinical manifestations of Fabry disease
- All patients have to have a plasma αGAL activity of < 1.5 nmol/hr/mL or a documented leukocyte αGAL activity of < 4 nmol/hr/mg
- Patient or patient's parent/guardian had to provide written informed consent prior to any study-related procedures being performed
- Patients had to be male and ≥ 16 years of age
Who cannot join
- There is evidence of renal insufficiency, as defined by serum creatinine greater than or equal to 2.2 mg/dL (194.7 μmol/L) AND/OR has an estimated glomerular filtration rate (GFR) of <80 mL/min (using the equation derived from the Modification of Diet in Renal Disease Study (MDRD))
- Has undergone kidney transplantation or is currently on dialysis
- Has a clinically significant organic disease or an unstable condition (with the exception of symptoms relating to Fabry disease) that in the opinion of the Investigator would preclude participation in the trial
- Has participated in a study employing an investigational drug within 30 days of the start of this trial
- Patients who received prior treatment with enzyme replacement therapy for Fabry disease
- Patient was unable to comply with the requirements of the protocol
Trial locations and contacts
4 sites in 4 countries.
4 sites in 4 countries
Estonia1 site
Tartu University Clinics, Department of Internal Medicine
Tartu, 51014
Poland1 site
Klinika Chorob Metabolicznych, Instytut "Pomnik-Centrum Zdrowia Dziecka"
Warsaw, 04-736
Slovakia1 site
Detská fakultná nemocnica Kramáre I. Interná klinika
Bratislava, 833 40
About this study
Official title: A Multicenter, Open-label Study of Low Dose Maintenance Treatment of Fabrazyme (Recombinant Human Alpha-Galactosidase A (R-h Alpha-GAL)) Replacement Therapy in Patients With Fabry Disease
People with Fabry disease have an alteration in their genetic material (DNA) which causes a deficiency of the alpha-galactosidase A enzyme. This enzyme helps to break down and remove certain types of fatty substances called "glycolipids." These glycolipids are normally present within the body in most cells. In people with Fabry disease, glycolipids build up in various tissues such as the liver, kidney, skin, and blood vessels because alpha-galactosidase A is not present, or is present in small quantities. The build up of glycolipid levels (also referred to as "globotriaosylceramide" or "GL-3") in these tissues is thought to cause the clinical symptoms that are common to Fabry disease. Symptoms commonly appear during childhood with pain in the hands and feet. This trial is designed to evaluate the efficacy of a lower dose of Fabrazyme in patients who initially received 1.0 mg/kg every 2 weeks of Fabrazyme by investigating if the achieved clearance of glycosphingolipid deposits in the vascular endothelium of the kidney can be maintained at a lower dose.
- Conditions
- Fabry Disease
- Being tested
- Fabrazyme (agalsidase beta)
- Keywords
- alpha Galactosidase A, aGAL, rh aGAL, Fabry, GL3, Fabrazyme
- Medical subject headings
- Fabry Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Fabrazyme (agalsidase beta)Biological
Also called r-hαGAL
1.0 mg/kg Fabrazyme every two weeks for approximately six months followed by 0.3 mg/kg Fabrazyme every two weeks for approximately 18 months
| Study group | Role | What they receive |
|---|---|---|
| Fabrazyme | Experimental | Open-label study. Patients received 1.0 mg/kg Fabrazyme every two weeks for approximately six months followed by 0.3 mg/kg Fabrazyme every two weeks for approximately 18 months. Receives: Biological: Fabrazyme (agalsidase beta) |
What is being measured
The primary outcome is the main question the study is designed to answer.
Globotriaosylceramide (GL-3) Clearance in Kidney Interstitial Capillary Endothelium
Kidney biopsies were taken at Baseline, Week 24, and Week 96 and analyzed for cellular GL-3 accumulation (inclusions) by light microscopy. Each biopsy was evaluated by pathologists for the total number of vessels with GL-3 accumulation on an inclusion severity score of 0 (none/trace), 1 (mild), 2 (moderate), and 3 (severe).
Measured: Throughout study; 96 weeks
Secondary outcomes (4)
Skin Globotriaosylceramide (GL-3) Clearance From Superficial Skin Capillary Endothelium
Skin biopsies were taken at Baseline, Week 24, Week 48, Week 72, and Week 96 and analyzed for cellular GL-3 accumulation (inclusions) by light microscopy. Each biopsy was evaluated by pathologists for the total number of vessels with GL-3 accumulation on an inclusion severity score of 0 (none/trace), 1 (mild), 2 (moderate), and 3 (severe).
Measured: Throughout study ; 96 weeks
Estimated Glomerular Filtration Rate (eGFR)
Evaluated at Baseline, Week 24 and Week 96. eGFR is an estimation of the glomerular filtration rate of the kidneys (how much blood the kidneys are filtering). For this study, normal eGFR was defined as greater than 90 mL/min/1.73 m2
Measured: Throughout study; 96 weeks
Plasma Globotriaosylceramide (GL-3)
Evaluated at Baseline, Week 24, Week 48, Week 72 and Week 96. Plasma GL-3 is often elevated in the plasma of patients diagnosed with Fabry disease. This outcome measure evaluated the mean plasma GL-3 values for all patients to see if it decreased while on Fabrazyme. Normal plasma GL-3 level was <= 7.03 µg/mL.
Measured: Throughout study; 96 weeks
Urine Globotriaosylceramide (GL-3)
Evaluated at Baseline, Week 24 and Week 96. Urine GL-3 is often elevated in the urine of patients diagnosed with Fabry disease. This outcome measure evaluated the mean urine GL-3 in first morning void urine for all patients to see if it decreased while on Fabrazyme. Normal Urine GL-3 threshold was < 8.8 μg/mg.
Measured: Throughout study, 96 weeks
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted20 Sep 2005 (estimated)
- Study startJun 2003
- Primary completionApr 2006
- Study completionMar 2007
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Posted resultsParticipant flow, outcome measures and adverse events reported by the sponsor.
- Other trials for Fabry DiseaseStudies of the same condition, open and under way.
- 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 2
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 21 participants (actual)
Sponsor and investigators
- Lead sponsor
- Genzyme, a Sanofi Company
- Sponsor type
- Industry (pharma, biotech, devices)
- Investigators
- Medical Monitor, Study director, Genzyme, a Sanofi Company
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00196716
- Sponsor's protocol ID
- AGAL-017-01
- Status last verified
- Mar 2015
- First submitted
- 12 Sep 2005
- Last updated
- 3 Apr 2015
- Results posted
- Yes, on ClinicalTrials.gov
Study at a glance
From the registry record, last updated by the sponsor on 3 Apr 2015. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Multicenter, Open-label Study of Low Dose Maintenance Treatment of Fabrazyme (Recombinant Human Alpha-Galactosidase A (R-h Alpha-GAL)) Replacement Therapy in Patients With Fabry Disease
- ClinicalTrials.gov ID
- NCT00196716
- Acronym / sponsor ID
- AGAL-017-01
- Conditions
- Fabry Disease
- Keywords
- alpha Galactosidase A, aGAL, rh aGAL, Fabry, GL3, Fabrazyme
- Phase
- Phase 2
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 21 participants (actual)
- Lead sponsor
- Genzyme, a Sanofi CompanyIndustry (pharma, biotech, devices)
- Study start
- Jun 2003
- Primary completion
- Apr 2006 (actual)
- Study completion
- Mar 2007 (actual)
- First posted
- 20 Sep 2005 (estimated)
- Results
- Posted 2 Apr 2009
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
People with Fabry disease have an alteration in their genetic material (DNA) which causes a deficiency of the alpha-galactosidase A enzyme. This enzyme helps to break down and remove certain types of fatty substances called "glycolipids." These glycolipids are normally present within the body in most cells. In people with Fabry disease, glycolipids build up in various tissues such as the liver, kidney, skin, and blood vessels because alpha-galactosidase A is not present, or is present in small quantities. The build up of glycolipid levels (also referred to as "globotriaosylceramide" or "GL-3") in these tissues is thought to cause the clinical symptoms that are common to Fabry disease. Symptoms commonly appear during childhood with pain in the hands and feet. This trial is designed to evaluate the efficacy of a lower dose of Fabrazyme in patients who initially received 1.0 mg/kg every 2 weeks of Fabrazyme by investigating if the achieved clearance of glycosphingolipid deposits in the vascular endothelium of the kidney can be maintained at a lower dose.
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Fabrazyme | Experimental | Biological: Fabrazyme (agalsidase beta)Open-label study. Patients received 1.0 mg/kg Fabrazyme every two weeks for approximately six months followed by 0.3 mg/kg Fabrazyme every two weeks for approximately 18 months. |
Who may qualify
- Ages
- 16 years and older
- Sex
- Male only
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (4 listed)
- Have clinical manifestations of Fabry disease
- All patients have to have a plasma αGAL activity of < 1.5 nmol/hr/mL or a documented leukocyte αGAL activity of < 4 nmol/hr/mg
- Patient or patient's parent/guardian had to provide written informed consent prior to any study-related procedures being performed
- Patients had to be male and ≥ 16 years of age
Key exclusion criteria (6 listed)
- There is evidence of renal insufficiency, as defined by serum creatinine greater than or equal to 2.2 mg/dL (194.7 μmol/L) AND/OR has an estimated glomerular filtration rate (GFR) of <80 mL/min (using the equation derived from the Modification of Diet in Renal Disease Study (MDRD))
- Has undergone kidney transplantation or is currently on dialysis
- Has a clinically significant organic disease or an unstable condition (with the exception of symptoms relating to Fabry disease) that in the opinion of the Investigator would preclude participation in the trial
- Has participated in a study employing an investigational drug within 30 days of the start of this trial
- Patients who received prior treatment with enzyme replacement therapy for Fabry disease
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 |
|---|---|---|
| Fabrazyme (agalsidase beta)Also: r-hαGAL1.0 mg/kg Fabrazyme every two weeks for approximately six months followed by 0.3 mg/kg Fabrazyme every two weeks for approximately 18 months | Biological | Fabrazyme |
Primary outcome
Globotriaosylceramide (GL-3) Clearance in Kidney Interstitial Capillary Endothelium
Time frame: Throughout study; 96 weeks
Kidney biopsies were taken at Baseline, Week 24, and Week 96 and analyzed for cellular GL-3 accumulation (inclusions) by light microscopy. Each biopsy was evaluated by pathologists for the total number of vessels with GL-3 accumulation on an inclusion severity score of 0 (none/trace), 1 (mild), 2 (moderate), and 3 (severe).
4 secondary outcomes
Skin Globotriaosylceramide (GL-3) Clearance From Superficial Skin Capillary Endothelium
Time frame: Throughout study ; 96 weeks
Estimated Glomerular Filtration Rate (eGFR)
Time frame: Throughout study; 96 weeks
Plasma Globotriaosylceramide (GL-3)
Time frame: Throughout study; 96 weeks
Urine Globotriaosylceramide (GL-3)
Time frame: Throughout study, 96 weeks
Results and safety
Loading the posted results from ClinicalTrials.gov…
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 3 Apr 2015.
- Posted resultsParticipant flow, baseline, all outcome measures and adverse events.
Related trials for Fabry Disease
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A Global Prospective Observational Study of Women With Fabry Disease and Their Infants During Pregnancy and Breastfeeding
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A Study of Patients With Fabry Disease (US Specific)
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Active, not recruiting
Evaluation of the Effect of a Low-FODMAP Diet on Gastrointestinal Symptoms and Inflammatory Markers in Fabry Patients
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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.
Medical Monitor study director
Genzyme, a Sanofi Company
4 sites in 4 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 2 study testing Fabrazyme (agalsidase beta) in people with Fabry Disease, run by Genzyme, a Sanofi Company at 4 sites in 4 countries.
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 4 inclusion and 6 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: finished, as of the sponsor's last update on 3 Apr 2015. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 4 sites in Czechia, Estonia, Poland, Slovakia. 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.
What does this phase mean?
Phase 2 studies give the treatment to a larger group to see whether it has the intended effect and to keep checking safety.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
Yes. Results are posted in the registry (first posted 2 Apr 2009). A summary is in the For doctors view, and the full results are on ClinicalTrials.gov.
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?
Globotriaosylceramide (GL-3) Clearance in Kidney Interstitial Capillary Endothelium (time frame: Throughout study; 96 weeks). 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 3 Apr 2015; AzTrials last refreshed its copy on 8 Nov 2026.