| Category | Study (year) | Population (n; type) | Design | Key quantitative findings | DOI/URL |
|---|---|---|---|---|---|
| Epidemiology / natural history | McGovern et al. (2021) (pqac-00000016, pqac-00000041) | 59 patients; chronic ASMD types A/B and B; age 7-64 y; 31 male/28 female (pqac-00000016, pqac-00000041) | Prospective, multicenter, multinational longitudinal natural history study; follow-up 4.5-11 years (pqac-00000016, pqac-00000041) | ILD in 66% (39/59) at baseline and 78% (25/32) at final visit; spleen volumes 4-29 multiples of normal; moderate/severe splenomegaly in 86% baseline, 83% year 1, 90% final; median % predicted DLCO decreased by >10%; 9/59 deaths (15%), 8 ASMD-related, most commonly pneumonia; severe splenomegaly or prior splenectomy associated with mortality (OR 10.29, 95% CI 1.7-62.7) (pqac-00000016, pqac-00000041) | https://doi.org/10.1186/s13023-021-01842-0 |
| Epidemiology / natural history | Mengel et al. (2024) (pqac-00000015, pqac-00000047) | 33 chart records; 24 type B, 9 type A/B (pqac-00000015, pqac-00000047) | Retrospective multicenter German cohort, 1990-2021 (pqac-00000015, pqac-00000047) | Manifestations: spleen 100.0%, liver 93.9%, respiratory 77.4%; median age at diagnosis 8.0 y (IQR 3.0-20.0) for type B and 1.0 y (1.0-2.0) for type A/B; 9 deaths, all ASMD-related; median age at death 31.0 y for type B and 9.0 y for type A/B; median overall survival 45.4 y (95% CI 17.5-65.0); SMR 21.6 (95% CI 9.8-38.0) (pqac-00000015, pqac-00000047) | https://doi.org/10.1186/s13023-024-03174-1 |
| Epidemiology / natural history | Mauhin et al. (2024) (pqac-00000023, pqac-00000045, pqac-00000046) | 118 ASMD records total; 94 type B, 15 type A, 9 type A/B (pqac-00000023, pqac-00000045, pqac-00000046) | Retrospective multicenter French survival study, 1990-2020 (pqac-00000023, pqac-00000045, pqac-00000046) | For type B: estimated birth prevalence in France ~1/230,000 births; median age at diagnosis 5.5 y (range 0-73); 10/94 deaths (10.6%); median age at death 57.6 y (range 3.4-74.1); SMR 3.5 (95% CI 1.6-5.9); type-B deaths mostly adults; cancer accounted for 5/10 type-B deaths in one detailed breakdown (pqac-00000045, pqac-00000046) | https://doi.org/10.1186/s13023-024-03234-6 |
| Epidemiology / natural history | Pulikottil-Jacob et al. (2023) (pqac-00000022) | 47 patients in primary claims cohort; 59 in sensitivity cohort; ASMD type B/high-probability type B (pqac-00000022) | Retrospective US claims analysis using IQVIA Open Claims, 2010-2019 (pqac-00000022) | 70% of primary cohort aged <18 y; liver, spleen, and lungs were the most frequently affected organs; respiratory/lung disorders drove most ED visits and hospitalizations; demonstrates high healthcare-service use in real-world practice (pqac-00000022) | https://doi.org/10.1007/s12325-023-02453-w |
| Olipudase alfa clinical outcomes | Wasserstein et al. (2023) ASCEND open-label extension (pqac-00000028, pqac-00000030) | 35 adults with chronic ASMD (type B and A/B) continued/crossed over after ASCEND; 33 completed year 2 (pqac-00000028, pqac-00000030) | Open-label extension of randomized placebo-controlled ASCEND adult trial; NCT02004691 (pqac-00000028) | Cross-over group after 1 year: DLCO +28.0 ± 6.2%, spleen volume -36.0 ± 3.0%, liver volume -30.7 ± 2.5%; continuous olipudase alfa for 2 years: DLCO +28.5 ± 6.2%, spleen -47.0 ± 2.7%, liver -33.4 ± 2.2%; lipid profiles and elevated transaminases improved/normalized and remained stable; 99% of TEAEs mild/moderate; one treatment-related serious AE (extrasystoles); no discontinuations due to AEs (pqac-00000028, pqac-00000030) | https://doi.org/10.1186/s13023-023-02983-0 |
| Olipudase alfa clinical outcomes | Diaz et al. (2022) ASCEND-Peds 2-year results (pqac-00000027, pqac-00000032) | 20 pediatric patients; chronic ASMD types B or A/B; 4 adolescents, 9 children, 7 infants/early child (pqac-00000027, pqac-00000032) | Pediatric clinical trial plus long-term continuation; completed ASCEND-Peds (NCT02292654) and continued in NCT02004704 (pqac-00000027, pqac-00000032) | Mean reductions from baseline at 2 years: spleen volume -61%, liver volume -49% (p<0.0001); mean % predicted DLCO +46.6% (p<0.0001) in 9 evaluable patients; mean height Z-score +1.17 (p<0.0001); no discontinuations; 99% of AEs mild/moderate; one patient had 2 treatment-related serious hypersensitivity events that resolved (pqac-00000027, pqac-00000032) | https://doi.org/10.1186/s13023-022-02587-0 |
| Olipudase alfa clinical outcomes | Lachmann et al. (2023) long-term adult study (pqac-00000031) | 5 adults with chronic ASMD (pqac-00000031) | Open-label long-term study; 30-month results from NCT02004704 (pqac-00000031) | Liver volume -31%, spleen volume -39%, mean DLCO +35% at 30 months; lipid profiles improved in all patients; no deaths, serious or severe events, or discontinuations; no anti-drug antibodies detected (pqac-00000031) | https://doi.org/10.1007/s10545-017-0123-6 |
| Olipudase alfa clinical outcomes | Syed (2023) drug profile summarizing ASCEND/ASCEND-Peds (pqac-00000025) | Adults in ASCEND and pediatric patients in ASCEND-Peds (numbers not restated in excerpt) (pqac-00000025) | Narrative drug profile/review of trial evidence (pqac-00000025) | Adults at week 52: 27.7% on olipudase alfa had ≥15% absolute DLCO increase vs 0% placebo; 94.4% had ≥30% spleen-volume reduction vs 0% placebo; FVC +6.76% vs +1.48%; ALT -36.5% vs -0.98%; AST -31.6% vs +2.0%; total bilirubin -29.9% vs +12.5%; anti-atherogenic lipids increased and pro-atherogenic lipids decreased (pqac-00000025) | https://doi.org/10.1007/s40261-023-01270-x |


*Table: This table compiles the main quantitative epidemiology/natural-history studies and the pivotal olipudase alfa outcome studies for chronic ASMD type B/A-B. It is useful for quickly comparing disease burden, survival, and treatment effects across recent authoritative sources.*