We updated the design of this site on December 18, 2017. Learn more.
ClinicalTrials.gov Menu

Evaluation of Efficacy and Safety of Agalsidase Beta in Heterozygous Females for Fabry Disease (HEART)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
ClinicalTrials.gov Identifier: NCT00487630
Recruitment Status : Unknown
Verified June 2007 by Assistance Publique - Hôpitaux de Paris.
Recruitment status was:  Recruiting
First Posted : June 18, 2007
Last Update Posted : June 18, 2007
Information provided by:

Study Description
Brief Summary:
Fabry disease (OMIM 301500) is an X-linked inborn error of sphingolipid metabolism resulting from the deficiency of the lysosomal enzyme alpha-galactosidase A. Heterozygous females for Fabry disease may be symptomatic with cardiac, renal or cerebrovascular involvement. Clearance of Gb3 and stabilization of renal function has been demonstrated in male patients treated with agalsidase beta (FABRAZYME). In contrast, no randomized, controlled study of the efficacy of recombinant alpha-galactosidase A has been reported in heterozygotes for Fabry disease.

Condition or disease Intervention/treatment Phase
Fabry Disease Drug: recombinant alpha-galactosidase A Phase 4

Detailed Description:

The primary objective is to evaluate cardiac left ventricular mass (measured with echocardiography by unique investigator) in females over 15 years of age affected with Fabry disease receiving 70 mg of agalsidase beta every other week, as compared with an untreated controlled group matched for gender and age.

The secondary objectives include evaluation of :

  • left ventricular posterior wall thickness (echocardiography)
  • interventricular septum thickness (echocardiography)
  • tissue doppler imaging (myocardial function)
  • EKG
  • creatinaemia
  • serum cystatin C level
  • urinary protein/creatinine ratio
  • microalbuminuria
  • Gb3 urinary levels

Evaluation of tolerance and safety with :

  • Home therapy infusions follow up
  • Vitals
  • Physical examination
  • Adverse events
  • Antibodies levels

Study Design

Study Type : Interventional  (Clinical Trial)
Estimated Enrollment : 34 participants
Allocation: Randomized
Intervention Model: Parallel Assignment
Masking: None (Open Label)
Primary Purpose: Treatment
Official Title: A Multicenter, Phase 4, Randomized, Controlled Study to Evaluate the Efficacy and Safety of Recombinant Alpha-Galactosidase A (Agalsidase Beta, FABRAZYME) in Heterozygous Females for Fabry Disease
Study Start Date : June 2005
Estimated Study Completion Date : June 2009

Resource links provided by the National Library of Medicine

U.S. FDA Resources

Arms and Interventions

Outcome Measures

Primary Outcome Measures :
  1. Left ventricular mass [ Time Frame: 2 years ]

Secondary Outcome Measures :
  1. Posterior wall thickness, interventricular thickness, ECG, creatinaemia, urinary protein / creatinine ratio, microalbuminuria, urinary Gb3 level [ Time Frame: 2 years ]

Eligibility Criteria

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

Ages Eligible for Study:   15 Years and older   (Child, Adult, Senior)
Sexes Eligible for Study:   Female
Accepts Healthy Volunteers:   No

Inclusion Criteria:

  • Female patients over 15 years with clinical and biological evidence of Fabry disease (GLA gene mutation detected)

Exclusion Criteria:

  • Pregnancy
  • Allergy to agalsidase beta
  • Congestive heart failure
  • Creatinaemia > 135 µmol/l
  • Medical history of stroke during the last year
  • Medical history of more than 2 transient ischemic attack
  • Blood pressure > 160/95
  • Modification in medications treating for blood pressure during the last 3 months before enrollment
  • Complete absence of clinical or biological symptoms
  • Weight > 87 kg or < 35 kg
Contacts and Locations

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): NCT00487630

Contact: Dominique P GERMAIN, MD, PhD +33156092306 dominique.germain@egp.aphp.fr
Contact: Karelle BENISTAN, MD +33156092802 karelle.benistan@egp.aphp.fr

Centre de reference de la maladie de Fabry et des maladies hereditaires du tissu conjonctif. Assistance Publique - Hôpitaux de Paris Recruiting
Paris, France
Principal Investigator: Dominique P GERMAIN, MD, PhD         
Sub-Investigator: Karelle BENISTAN, MD         
Sub-Investigator: Albert A HAGEGE, MD, PhD         
Sub-Investigator: Gilles CHATELLIER, MD, PhD         
Sponsors and Collaborators
Assistance Publique - Hôpitaux de Paris
Principal Investigator: Dominique P GERMAIN, MD, PhD Centre de reference de la maladie de Fabry et des maladies hereditaires du tissu conjonctif. Assistance Publique Hopitaux de Paris
More Information

ClinicalTrials.gov Identifier: NCT00487630     History of Changes
Other Study ID Numbers: AOM-01-076
PHRC National 2001
First Posted: June 18, 2007    Key Record Dates
Last Update Posted: June 18, 2007
Last Verified: June 2007

Keywords provided by Assistance Publique - Hôpitaux de Paris:
Heterozygous females

Additional relevant MeSH terms:
Fabry Disease
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
Lipid Metabolism, Inborn Errors
Lysosomal Storage Diseases
Metabolic Diseases
Lipid Metabolism Disorders