Enzyme Replacement Therapy in Fabry Disease

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. Identifier: NCT00149318
Recruitment Status : Terminated (Difficulties in the patient's enrolment)
First Posted : September 8, 2005
Last Update Posted : November 10, 2014
Information provided by (Responsible Party):
Mario Negri Institute for Pharmacological Research

Brief Summary:

Fabry disease is an X-linked rare metabolic disease, caused by a deficient activity of the hydrolase α-Galactosidase A, and characterized by a progressive and systematic deposition of glycosphingolipids in many organs.

The disease is most severe in affected males. In the classic form (where the enzyme activity is absent) the clinical findings are represented by pain and paresthesias in the extremities, vessel ectasia (called angiokeratoma) in skin and mucous membranes, and hypohidrosis (a reduced sweating) during childhood or adolescence. Corneal and lenticular opacities may be present. Proteinuria, renal impairment,cardiac and neurological lesions develop with time, together with hypertension. When end stage renal disease occurs, dialysis or renal transplantation may be necessary. In heterozygous females a residual enzymatic activity may be demonstrated and they usually have asymptomatic or later onset disease manifestations, although rarely they could develop a disease as severe as in males.

A cardiac and a renal variant, where the heart and kidney are the only organs involved by the disease have been described too.

The recombinant human α-galactosidase A is now available for patients. Infusions of the enzyme replacement treatment have been demonstrated to be safe and effective. This study wants to evaluate the long term efficacy of enzyme replacement therapy in patients with Fabry disease and renal involvement.

Clinical period evaluations together with a genetic counselling will be offered to each patient.

Condition or disease Intervention/treatment
Fabry Disease Other: Biochemical analyses.

  Show Detailed Description

Study Type : Observational
Actual Enrollment : 2 participants
Observational Model: Case-Only
Time Perspective: Prospective
Official Title: Evaluation of the Long Term Efficacy of Enzyme Replacement Therapy in Fabry Disease
Study Start Date : December 2002
Actual Primary Completion Date : October 2008
Actual Study Completion Date : November 2014

Resource links provided by the National Library of Medicine

Group/Cohort Intervention/treatment
Patients with Fabry disease Other: Biochemical analyses.
Biochemical analyses.

Biospecimen Retention:   Samples With DNA
Whole blood on EDTA. Serum. Urine samples.

Information from the National Library of Medicine

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Ages Eligible for Study:   16 Years to 65 Years   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Patients with Fabry disease.

Inclusion Criteria:

  • age ≥ 16 years and ≤ 65 years
  • clinical diagnosis of Fabry disease, confirmed by α-galactosidase A assay and detection of mutation in α-GalA gene
  • serum creatinine ≥ 1.4 mg/dl (females) and ≥ 1.6 mg/dl (males) and/or proteinuria ≥ 0.4 g/24h
  • written informed consent

Exclusion Criteria:

  • any clinically relevant condition that may affect study participation and/or study results
  • inability to fully understand the purpose and the risks of the study

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 identifier (NCT number): NCT00149318

Clinical Research Center for Rare Diseases
Ranica, Bergamo, Italy, 24020
Sponsors and Collaborators
Mario Negri Institute for Pharmacological Research
Principal Investigator: Erica Daina, MD Mario Negri Institute

Responsible Party: Mario Negri Institute for Pharmacological Research Identifier: NCT00149318     History of Changes
Other Study ID Numbers: FABRY DISEASE
First Posted: September 8, 2005    Key Record Dates
Last Update Posted: November 10, 2014
Last Verified: November 2014

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