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Clinical Information
- Online Mendelian Inheritance in Man
| Online Mendelian Inheritance in Man (OMIM) (as of 6/2006): |
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From: Fabry's Disease
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"Two differently produced enzyme preparations have independently been examined in clinical investigations for the treatment of Fabry disease: 1 produced by Chinese hamster ovary (CHO) cells with classic recombinant technology (agalsidase-beta, Fabrazyme), and the other produced by cultured human skin fibroblasts with an activated promoter of the alpha-Gal A gene (agalsidase-alpha, Replagal)."
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- ACP Medicine
| ACP Medicine (as of 4/2005): |
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From: Cutaneous Manifestations of Systemic Diseases
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Authors: Lebwohl M |
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"Fabry disease is caused by an abnormality of a-galactosidase A, resulting in deposition of glycosphingolipids in body tissues. The disorder is inherited as an X-linked recessive trait. A variety of different mutations in the gene for a-galactosidase A have been found in unrelated families with Fabry disease.61 Affected males often complain of severe pain in the extremities, with burning of the palms and soles. Episodes of pain are transient, but patients complain of persistent paresthesias in the hands and feet."
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- UpToDate
| UpToDate (as of 5/2005): |
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From: Clinical features and diagnosis of Fabry disease
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Authors: Cho ME, et al |
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"Fabry disease, also called Anderson-Fabry disease, is the second most prevalent lysosomal storage disorder after Gaucher disease. It is an X-linked inborn error of the glycosphingolipid metabolic pathway. This results in accumulation of globotriaosylceramide (Gb3) in a variety of cells, including in the lysosomes, thereby leading to the manifestations of the disease"
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Patient Information
- NINDS
| National Institute of Neurological Disorders and Stroke (as of 1/24/2006): |
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From: NINDS Fabry's Disease Information Page
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"Fabry disease is caused by the lack of or faulty enzyme needed to metabolize lipids, fat-like substances that include oils, waxes, and fatty acids."
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Agalsidase
- Terminology
| Terminology (as of 1/2007): |
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The enyme with deficient activity in Fabry's Disease is alpha-galactosidase A. Two recombinant preparations of replacement enzyme are called agalsidase beta (Fabrazyme) and agalsidase alfa (Replagal). Beano® is an oral preparation of alpha-galactosidase.
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- 1970: Role of alpha-galactosidase identified
| PubMed (as of 1970): |
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- 1989: Gene identified
| PubMed (as of 1989): |
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Per OMIM: "Kornreich et al. (1989) presented the complete nucleotide sequence of the GLA gene, including an extensive segment of 5-prime and 3-prime flanking sequences."
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- UpToDate
| UpToDate (as of 5/2005): |
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From: Treatment of Fabry disease
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Authors: Cho ME, et al |
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"We recommend enzyme replacement therapy in patients with Fabry disease who have renal manifestations, ideally as soon as such manifestations are observed (Grade 1B). Given the theoretic benefit of reducing the risk of recurrent renal disease, we suggest enzyme replacement therapy for patients with ESRD due to Fabry disease who have received a kidney transplant (Grade 2C)."
"We suggest enzyme replacement therapy in males and female carriers with substantial non-renal manifestations, including patients with end-stage renal disease (dialysis or transplant recipients) in whom the goal is to reduce the consequences of other organ involvement (eg, cardiac, neurologic) (Grade 2B)."
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- Patient information
- Regulatory
AT1001 (migalastat hydrochloride)
- Description
| Description (as of 1/2007): |
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Migalastat is a pharmacologic chaperone that binds a-galactosidase, which may increase the enzyme’s stability and promote the proper folding, processing, and trafficking of the enzyme from the endoplasmic reticulum to the lysosome, where migalastat is displaced and a-galactosidase can break down GL-3.
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- Registered trials
| ClinicalTrials.gov (as of 12/1/2006): |
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5 total trials (as of 12/2006. All still recruiting patients)
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