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

The recruitment status of this study is unknown. The completion date has passed and the status has not been verified in more than two years.
Verified June 2007 by Assistance Publique - Hôpitaux de Paris.
Recruitment status was:  Recruiting
Information provided by:
Assistance Publique - Hôpitaux de Paris Identifier:
First received: June 15, 2007
Last updated: NA
Last verified: June 2007
History: No changes posted
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 Intervention Phase
Fabry Disease
Drug: recombinant alpha-galactosidase A
Phase 4

Study Type: Interventional
Study Design: Allocation: Randomized
Intervention Model: Parallel Assignment
Masking: 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

Resource links provided by NLM:

Further study details as provided by Assistance Publique - Hôpitaux de Paris:

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

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

Estimated Enrollment: 34
Study Start Date: June 2005
Estimated Study Completion Date: June 2009
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

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
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Please refer to this study by its identifier: NCT00487630

Contact: Dominique P GERMAIN, MD, PhD +33156092306
Contact: Karelle BENISTAN, MD +33156092802

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 Identifier: NCT00487630     History of Changes
Other Study ID Numbers: AOM-01-076
PHRC National 2001
Study First Received: June 15, 2007
Last Updated: June 15, 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 processed this record on May 25, 2017