Saudi newborn screening will detect 25-35 infantile Pompe cases yearly, while late-onset patients are still found at 55-65% FVC.

Pompe disease incidence in the GCC runs 1 in 20,000 to 30,000 live births versus roughly 1 in 40,000 globally, elevated by consanguinity; infantile-onset Pompe represents a larger proportion of GCC cases than in global series, consistent with the region's consanguinity pattern. Saudi Arabia added Pompe disease, via a GAA dried-blood-spot assay, to its national newborn screening programme in 2021, with an expected 25 to 35 combined GCC infantile-onset detections annually. The KFSH&RC metabolic genetics programme has treated approximately 120 Pompe patients of all subtypes over 15 years, the region's largest single-centre experience.

Late-onset Pompe disease follows a very different path: GCC patients typically present at age 20 to 40 with progressive proximal myopathy or respiratory decline, and diagnosis often comes only after multiple rheumatology or neurology assessments have first considered, and excluded, limb-girdle muscular dystrophy. Baseline forced vital capacity at diagnosis is estimated at 55% to 65% predicted, indicating advanced disease by the time enzyme assay and genetic confirmation finally occur. Enzyme replacement therapy requires specialist infusion capacity available at only 6 to 8 centres across all six GCC countries, and patients outside these cities travel 100 to 300km for biweekly infusions, though KFSH&RC piloted a home infusion programme in 2022.

Late-onset Pompe hides behind a limb-girdle muscular dystrophy diagnosis for years.

Five questions this report answers:

Q1 - How is Saudi Arabia's 2021 newborn screening expansion changing the infantile-onset diagnosed population?

Q2 - Why do late-onset Pompe patients pass through a limb-girdle muscular dystrophy detour?

Q3 - Which GCC metabolic centres have ERT infusion capacity, and what does that gap mean for access?

Q4 - How do newborn screening and diagnostic delay reshape the addressable GCC Pompe market?

Q5 - Why does GCC Pompe disease incidence run 33-100% above the global rate?

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