Enzyme Replacement Therapy in Fabry Disease

NCT00149318 | Terminated

• 1 other identifier: FABRY DISEASE
• Study Type: observational
• Target: 2
• Locations: 1 country
• Sites: 1

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.

Conditions

Fabry Disease

Study Arms (1)

Patients with Fabry disease

Other: Biochemical analyses.

Interventions

Biochemical analyses. OTHER

Biochemical analyses.

Patients with Fabry disease

Eligibility Criteria

• Age: 16 Years - 65 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients with Fabry disease.

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• Mario Negri Institute for Pharmacological Research: lead

Study Sites (1)

Clinical Research Center for Rare Diseases

Ranica, Bergamo, 24020, Italy

Location

Biospecimen

Retention: SAMPLES WITH DNA

Whole blood on EDTA. Serum. Urine samples.

MeSH Terms

Conditions

Fabry Disease

Condition Hierarchy (Ancestors)

Sphingolipidoses; 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; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolism, Inborn Errors; Lipidoses; Lipid Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Lipid Metabolism Disorders

Study Officials

• Erica Daina, MD

  Mario Negri Institute

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: September 6, 2005
• First Posted: September 8, 2005
• Study Start: December 1, 2002
• Primary Completion: October 1, 2008
• Study Completion: November 1, 2014
• Last Updated: November 10, 2014

Record last verified: 2014-11

Locations

IT (1)