2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Highlights in the treatment of Fabry's disease in female pediatric patients

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Fabry disease (FD) is a genetic disorder caused by mutations in the GLA gene, resulting in the deficiency of the alpha-Galactosidase enzyme. This leads to the accumulation of glycosphingolipids in various organs. While it is an X-linked disorder, the phenotypic expression in female patients is variable.<br /><br />Treatment options for FD include enzyme replacement therapy (ERT) with agalsidase-alfa or agalsidase-beta, which are administered intravenously every 2 weeks. Pegunigalsidase-alfa is a new form of ERT with increased stability and lower immunogenicity, currently being studied in children.<br /><br />Oral chaperone therapy with migalastat is another option, which selectively binds to the defective enzyme and corrects its misfolding. This therapy has been approved for female patients with specific genetic variants.<br /><br />Substrate reduction therapy (SRT) is represented by Venglustat, which inhibits the synthesis of glycosphingolipids. However, SRT is not yet licensed for treatment.<br /><br />Gene therapy shows promise as a potential future treatment for FD. A Phase 2 clinical trial is ongoing to assess the safety and efficacy of AVR-RD-01, a gene therapy based on adenovirus encoding GLA cDNA.<br /><br />Early diagnosis and genetic counseling are crucial for improving the management of FD. Delays in diagnosis can lead to a higher risk of complications and reduced life expectancy.<br /><br />In conclusion, there are several treatment options available for FD, including ERT, oral chaperone therapy, and potential future therapies such as gene therapy. Early diagnosis and intervention can help improve the prognosis and quality of life for patients with FD.

Asset Subtitle

Presenting Author - Giselle Gomez, MD; Co-Author - Lina Moreno Giraldo, MD, Ms.c, PhD;

Meta Tag

Enzyme Replacement Therapy

Lysosomal Diseases

Therapy

X-Inactivation/X-Linked Disease

Co-Author Lina Moreno Giraldo, MD, Ms.c, PhD

Presenting Author Giselle Gomez, MD

Keywords

Fabry disease

genetic disorder

GLA gene

enzyme replacement therapy

oral chaperone therapy

substrate reduction therapy

gene therapy

early diagnosis

genetic counseling

prognosis improvement