Pompe Care Podcast Series 3
Today we speak with Dr. Nadia Alhashmi, Senior Consultant in Chemical & Bio-Chemical Genetics at the National Genetics Royal Hospital in Oman, and Dr. Khalid Althihli, Senior Consultant in Chemical & Bio-Chemical Genetics at Sultan Qaboos University Hospital in Oman. With deep expertise in rare metabolic and genetic disorders, both specialists bring frontline clinical perspectives on Pompe disease — covering the typical patient journey, diagnostic challenges, and new diagnostic technologies, while sharing their compassionate approach to supporting patients and families and addressing the social stigma surrounding rare diseases.
What factors influence your decision to switch a patient from alglucosidase alfa to avalglucosidase alfa?
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How has avalglucosidase alfa impacted the treatment paradigm for both infantile-onset and late-onset Pompe disease in your experience?
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Have you observed any significant differences in treatment outcomes between these two therapies in your local practice?
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What challenges do clinicians face in monitoring in disease progrission and response to therapy?
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