ADA_SCID_Presentation.pptx , ,

ADA SCID

1. Understanding and Addressing ADA-SCID in KSA Epidemiology, Challenges, and Future Initiatives Presented by: [Your Name] | Date: [Date]

2. Introduction - ADA-SCID is a rare, life-threatening genetic disorder. - Caused by mutations in the ADA gene leading to severe immune dysfunction. - Early diagnosis and treatment are critical for survival. - Addressing challenges in awareness, access, and treatment.

3. Epidemiology of ADA-SCID - Global prevalence: 1 in 200,000 to 1 in 1,000,000 live births. - Higher prevalence in consanguineous populations, including the Middle East. - Estimated incidence in KSA is higher than global averages.

4. Pathophysiology of ADA-SCID - Caused by mutations in the ADA gene leading to enzyme deficiency. - Toxic metabolite accumulation disrupts immune cell function. - Severe impairment of T-cells, B-cells, and NK cells. - Increased susceptibility to infections and developmental issues.

5. Patient Burden - Medical Burden: Frequent severe infections, failure to thrive. - Psychosocial Burden: Impact on mental health, parental anxiety. - Economic Impact: High cost of lifelong treatment and hospitalization.

6. Current Treatment Landscape - Enzyme Replacement Therapy (ERT) – Temporary but widely used. - Hematopoietic Stem Cell Transplantation (HSCT) – Curative but donor-dependent. - Gene Therapy – Promising but expensive and not widely available.

7. Unmet Medical Needs - Limited access to gene therapy. - Challenges in HSCT donor availability. - Need for newborn screening and early intervention. - High treatment costs and sustainability issues.

8. ADA-SCID in KSA – Prevalence & Diagnosis Challenges - Higher incidence due to genetic factors. - Lack of widespread newborn screening programs. - Misdiagnosis due to overlap with other immunodeficiencies.

9. Treatment Access in KSA - HSCT available in select hospitals. - Peg-ADA therapy used but not curative. - Limited access to gene therapy. - High costs and insurance coverage challenges.

10. Recommended Activities for KSA - Expand newborn screening programs. - Increase availability of gene therapy. - Strengthen research and local epidemiological data. - Improve patient support programs.

11. Awareness & Stakeholder Engagement - Educate healthcare professionals via workshops and conferences. - Launch public awareness campaigns on social media. - Collaborate with government bodies and patient advocacy groups. - Partner with pharmaceutical companies to ensure treatment accessibility.

12. Conclusion & Next Steps - ADA-SCID is treatable with early diagnosis and proper management. - Improving screening, treatment access, and stakeholder collaboration is crucial. - Call to Action: Advocate for policy changes and research funding.