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. |
ClinicalTrials.gov Identifier: NCT00149318 |
Recruitment Status
:
Terminated
(Difficulties in the patient's enrolment)
First Posted
: September 8, 2005
Last Update Posted
: November 10, 2014
|
- Study Details
- Tabular View
- No Results Posted
- Disclaimer
- How to Read a Study Record
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. |

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 |

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

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: | 16 Years to 65 Years (Child, Adult) |
Sexes Eligible for Study: | All |
Accepts Healthy Volunteers: | No |
Sampling Method: | Non-Probability Sample |
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

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