Enzyme Replacement Therapy in Fabry Disease

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ClinicalTrials.gov Identifier: NCT00149318

Recruitment Status : Terminated (Difficulties in the patient's enrolment)

First Posted : September 8, 2005

Last Update Posted : November 10, 2014

Sponsor:

Information provided by (Responsible Party):

Mario Negri Institute for Pharmacological Research

Study Description

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 Design


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

Genetics Home Reference related topics: Fabry disease

Genetic and Rare Diseases Information Center resources: Fabry Disease Sphingolipidosis

U.S. FDA Resources

Groups and Cohorts

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

Outcome Measures

Biospecimen Retention: Samples With DNA

Whole blood on EDTA. Serum. Urine samples.

Eligibility Criteria

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.

Criteria

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

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): NCT00149318

Locations


Italy
Clinical Research Center for Rare Diseases
Ranica, Bergamo, Italy, 24020

Sponsors and Collaborators

Mario Negri Institute for Pharmacological Research

Investigators


Principal Investigator:	Erica Daina, MD	Mario Negri Institute

More Information


Responsible Party:	Mario Negri Institute for Pharmacological Research
ClinicalTrials.gov 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 Lysosomal Storage Diseases Metabolic Diseases Lipid Metabolism Disorders Sphingolipidoses Metabolism, Inborn Errors Lipidoses Lipid Metabolism, Inborn Errors

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