Lysosomal Storage Disorders: Gaucher, Fabry and Pompe Disease | CIS Orphan Forum 2026

Lysosomal storage disorders require early diagnosis, specialised clinical expertise, long-term follow-up and sustainable access to therapy. This session was held as part of the 3rd CIS/BRICS Forum on Rare Diseases 2026 and focused on lysosomal storage disorders, including Gaucher disease, Fabry disease, Pompe disease and other inherited metabolic diseases. The discussion addressed practical clinical experience across CIS countries, including diagnosis, patient routing, multidisciplinary follow-up, access to enzyme replacement therapy, monitoring of patients in real-world clinical practice, and the organisation of care for people living with lysosomal storage diseases. Session: Lysosomal Storage Disorders: Diagnosis, Patient Routing and Access to Therapy in CIS Forum: 3rd CIS/BRICS Forum on Rare Diseases 2026 Track: Specific Groups of Rare Diseases Date: May 26, 2026 Format: Online Organiser: CIS Orphan Consortium Moderator: Sergey Moiseev — Sechenov University, Russia Speakers: Prof. Chris Vorster — North-West University, South Africa Olga Mashkunova — Research Institute of Cardiology and Internal Diseases, Kazakhstan Marzhan Abdullaeva — Research Institute of Cardiology and Internal Diseases, Kazakhstan Raushan Motusheva — National Center for Maternal and Child Health, Kyrgyzstan Jamila Shagiyasova — Republican Specialized Scientific and Practical Medical Center of Pediatrics, Uzbekistan Key topics discussed included clinical practice in lysosomal storage diseases, Fabry disease in the Russian population, Gaucher disease diagnosis and management, Pompe disease, inherited metabolic disorders, confirmatory laboratory and genetic diagnostics, enzyme replacement therapy, patient routing between regions and reference centres, and access to treatment in CIS healthcare systems. The session highlights the importance of regional expertise, international exchange and sustainable models of care for patients with lysosomal storage disorders in CIS countries and beyond. CIS Orphan Consortium brings together experts, clinicians, researchers, patient organisations and policy stakeholders working to improve rare disease care, access to diagnostics and treatment, patient routing, health policy and international cooperation across CIS, BRICS and partner countries.