2021 ACMG Annual Clinical Genetics Meeting - Product Theaters-Sanofi Genzyme Rare Disease University (RDU)

Video Transcription

Video Summary

The video is a presentation by Carlos Prime, a clinical and biochemical geneticist, discussing Cerdelga and Liglustad capsules as first-line oral therapies for most adults with Gaucher disease type 1. Gaucher disease is a genetic disorder caused by deficient activity of an enzyme called acid beta-glucosidase. This leads to the accumulation of a lipid called glucosyl ceramide in the body, causing various debilitating symptoms.<br /><br />Cerdelga works by reducing the production of glucosyl ceramide, while Liglustad provides the missing enzyme activity. The presentation discusses the indications and usage of Cerdelga, including contraindications based on CYP2D6 metabolizer status and drug interactions.<br /><br />The presenter reviews the results of clinical trials, including the Engage trial for treatment-naive patients and the N-Core trial for patients switching from enzyme therapy. The trials demonstrate the effectiveness of Cerdelga in reducing spleen and liver volume, improving hematological parameters, and maintaining disease stability.<br /><br />Adverse events experienced by patients include fatigue, nausea, headaches, diarrhea, back pain, and upper abdominal pain. The safety profile and dosing information of Cerdelga are discussed, including precautions for patients with preexisting cardiac conditions and those with renal or hepatic impairment.<br /><br />Overall, the presenter highlights the efficacy and safety of Cerdelga as an oral therapy for Gaucher disease type 1, providing an alternative to enzyme replacement therapy. The presentation stresses the importance of considering metabolizer status, drug interactions, and individual patient characteristics when prescribing Cerdelga.

Asset Subtitle

Sanofi Genzyme

Keywords

Cerdelga

Liglustad

Gaucher disease type 1

enzyme therapy

clinical trials

safety profile