Fabry DiseasePhase 2NCT00074958
A Study of Fabrazyme in Pediatric Patients With Fabry Disease
A Phase 2 study testing Fabrazyme (agalsidase beta) in people with Fabry Disease, run by Genzyme, a Sanofi Company at 7 sites in 4 countries.
Trial summary
People with Fabry disease have an alteration in their genetic material (DNA) which causes a deficiency of the a-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 7 to 15 years
- 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
- 16 participants
- Where
- 7 sitesin 4 countries
- Study dates
- Oct 2002to Jul 2005
- 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 7 to 15 years
- All sexes
- No healthy volunteers
- Child
Who may be able to join
- Patient or legal guardian must provide written informed consent
- Patients must have a clinical diagnosis of Fabry disease and active Fabry disease (clinical signs and symptoms)
- Patients must be at least 7 years of age but no older than 15 years of age at time of enrollment
- Patients must be Tanner Stage ≤ III
- Female patients must have a negative pregnancy test prior to each infusion and use a medically accepted form of contraception throughout the study
Who cannot join
- Patient has a clinically significant organic disease (with the exception of symptoms relating to Fabry disease) that in the opinion of the investigator would preclude participation in the trial
- Patient has participated in a study employing investigational drug within 30 days of the start of this study
- Patient has received prior treatment with enzyme replacement therapy
- Patient is unable to comply with the clinical protocol
Trial locations and contacts
7 sites in 4 countries.
7 sites in 4 countries
France3 sites
Hopital Edouard Herriot
Lyon, Cedex 03
Hopital de la Timone Enfants
Marseille, Cedex 05
Hopital Europeen Georges Pompidou
Paris, Cedex 15
United Kingdom2 sites
Great Ormond Street Hospital for Sick Children
London, WC1N 3JH
Royal Manchester Children's Hospital
Pendlebury, Manchester, M27 4HA
About this study
Official title: A Multi-center, Phase 2, Open-Label Study of Fabrazyme (Recombinant Human a-Galactosidase A) Replacement Therapy in Pediatric Patients With Fabry Disease
People with Fabry disease have an alteration in their genetic material (DNA) which causes a deficiency of the a-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 a-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 study explored the safety, efficacy and pharmacokinetics of Fabrazyme in pediatric patients aged between 7 and 15 years.
- Conditions
- Fabry Disease
- Being tested
- Fabrazyme (agalsidase beta)
- Keywords
- a-Galactosidase A, aGal, r-haGAL, Fabry, GL-3, 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 mg/kg every 2 weeks
| Study group | Role | What they receive |
|---|---|---|
| Fabrazyme | Experimental | 1.0 mg/kg of Fabrazyme given to the patients every 2 weeks 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 Capillary Endothelium in the Skin
Skin biopsies were taken at Baseline, Week 24 and Week 48 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: Baseline, Week 24 and Week 48
Secondary outcomes (1)
Plasma GL-3
Plasma GL-3 values at Baseline, Week 24, and Week 48. Normal plasma GL-3 level is ≤ 7.03 µg/mL.
Measured: Baseline, Week 24 and Week 48
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted25 Dec 2003 (estimated)
- Study startOct 2002
- Primary completionMay 2005
- Study completionJul 2005
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.
- Publications (1)Papers the sponsor has linked to this study.
- 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
- 16 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
- NCT00074958
- Sponsor's protocol ID
- AGAL-016-01
- Status last verified
- Mar 2015
- First submitted
- 24 Dec 2003
- Last updated
- 2 Apr 2015
- Results posted
- Yes, on ClinicalTrials.gov
Publications
Wraith JE, Tylki-Szymanska A, Guffon N, Lien YH, Tsimaratos M, Vellodi A, Germain DP. Safety and efficacy of enzyme replacement therapy with agalsidase beta: an international, open-label study in pediatric patients with Fabry disease. J Pediatr. 2008 Apr;152(4):563-70, 570.e1. doi: 10.1016/j.jpeds.2007.09.007. Epub 2007 Dec 3.
PubMed 18346516
Study at a glance
From the registry record, last updated by the sponsor on 2 Apr 2015. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Multi-center, Phase 2, Open-Label Study of Fabrazyme (Recombinant Human a-Galactosidase A) Replacement Therapy in Pediatric Patients With Fabry Disease
- ClinicalTrials.gov ID
- NCT00074958
- Acronym / sponsor ID
- AGAL-016-01
- Conditions
- Fabry Disease
- Keywords
- a-Galactosidase A, aGal, r-haGAL, Fabry, GL-3, Fabrazyme
- Phase
- Phase 2
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 16 participants (actual)
- Lead sponsor
- Genzyme, a Sanofi CompanyIndustry (pharma, biotech, devices)
- Study start
- Oct 2002
- Primary completion
- May 2005 (actual)
- Study completion
- Jul 2005 (actual)
- First posted
- 25 Dec 2003 (estimated)
- Results
- Posted 16 Jun 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 a-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 a-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 study explored the safety, efficacy and pharmacokinetics of Fabrazyme in pediatric patients aged between 7 and 15 years.
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)1.0 mg/kg of Fabrazyme given to the patients every 2 weeks |
Who may qualify
- Ages
- 7 to 15 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
Key inclusion criteria (5 listed)
- Patient or legal guardian must provide written informed consent
- Patients must have a clinical diagnosis of Fabry disease and active Fabry disease (clinical signs and symptoms)
- Patients must be at least 7 years of age but no older than 15 years of age at time of enrollment
- Patients must be Tanner Stage ≤ III
- Female patients must have a negative pregnancy test prior to each infusion and use a medically accepted form of contraception throughout the study
Key exclusion criteria (4 listed)
- Patient has a clinically significant organic disease (with the exception of symptoms relating to Fabry disease) that in the opinion of the investigator would preclude participation in the trial
- Patient has participated in a study employing investigational drug within 30 days of the start of this study
- Patient has received prior treatment with enzyme replacement therapy
- Patient is unable to comply with the clinical protocol
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 mg/kg every 2 weeks | Biological | Fabrazyme |
Primary outcome
Globotriaosylceramide (GL-3) Clearance in Capillary Endothelium in the Skin
Time frame: Baseline, Week 24 and Week 48
Skin biopsies were taken at Baseline, Week 24 and Week 48 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).
1 secondary outcome
Plasma GL-3
Time frame: Baseline, Week 24 and Week 48
Results and safety
Loading the posted results from ClinicalTrials.gov…
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 2 Apr 2015.
- Posted resultsParticipant flow, baseline, all outcome measures and adverse events.
- Derived from this study: PubMed 18346516Wraith JE, Tylki-Szymanska A, Guffon N, Lien YH, Tsimaratos M, Vellodi A, Germain DP. Safety and efficacy of enzyme replacement therapy with agalsidase beta: an international, open-label study in pediatric patients with Fabry disease. J Pediatr. 2008 Apr;152(4):563-70, 570.e1. doi: 10.1016/j.jpeds.2007.09.007. Epub 2007 Dec 3.
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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
7 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 7 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 5 inclusion and 4 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 2 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 7 sites in France, United Kingdom, United States, Poland. 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 16 Jun 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 Capillary Endothelium in the Skin (time frame: Baseline, Week 24 and Week 48). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT00074958, which also lists 1 linked publication.
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 2 Apr 2015.