| Domain | Strongest quantitative finding | Evidence type | Source / date / DOI or NCT |
|---|---|---|---|
| Human cohort phenotypes | Among 57 molecularly confirmed patients, cleft palate occurred in 28, bifid uvula in 25, and Pierre-Robin sequence in 15; cardiac involvement affected 24 patients, including dilated cardiomyopathy in 12; hypoglycemia was reported in 38 patients; cardiac complications caused death in 6 patients (pqac-00000006, pqac-00000009, pqac-00000010) | Human clinical cohort / consensus synthesis | Altassan et al., *J Inherit Metab Dis*, Sep 2021, doi:10.1002/jimd.12286 |
| 2023 five-patient D-galactose outcomes | In 5 treated patients, notable clinical improvement occurred in 4; transferrin glycosylation, liver transaminases, and coagulation factors improved/normalized in 3; CK improved in 2; hypoglycemia resolved in 2; 1 discontinued for urinary frequency/lack of benefit; cardiac function did not improve in 3 with baseline abnormalities (pqac-00000002, pqac-00000008) | Human case series | Radenkovic et al., *Ther Adv Rare Dis*, Jan 2023, doi:10.1177/26330040221150269 |
| Standard D-galactose management | Recommended dose range 500-2500 mg/kg/day (about 1 g/kg/day typical), divided up to 6 doses, maximum 50 g/day; monitoring every 6 months includes ALT/AST, ATIII, CK, CDT/N-glycans, Gal-1-P, and urine galactitol (pqac-00000003, pqac-00000005) | Human management guideline / review | Boyer et al., *Trends Mol Med*, Jun 2022, doi:10.1016/j.molmed.2022.04.003; Altassan et al., Sep 2021, doi:10.1002/jimd.12286 |
| Skeletal muscle mechanism (C2C12) | CRISPR Pgm1-knockout myoblasts/myotubes showed significantly reduced basal respiration, ATP production, and spare respiratory capacity; ^13C6-galactose tracing showed a block in galactose use for energy production, and D-galactose did not rescue the energetic deficit (pqac-00000011, pqac-00000015) | In vitro cellular model | Conte et al., *Int J Mol Sci*, May 2023, doi:10.3390/ijms24098247 |
| Constitutive mouse model | Homozygous constitutive knockout produced 0 homozygous live births among 78 pups, indicating embryonic lethality before E9.5; heterozygotes had abnormal serum glycosylation similar to human PGM1-CDG (pqac-00000016) | Animal model | Balakrishnan et al., *J Inherit Metab Dis*, Jun 2019, doi:10.1002/jimd.12110 |
| Cardiac mouse multi-omics | In Pgm2cKO hearts, mitochondrial complex III activity was reduced by 25%; proteomics quantified 4,396 proteins; glycoproteomics identified 1,640 N-glycopeptides and 147 N-glycan compositions; 213 glycopeptides from 71 proteins changed significantly, with 74/213 from laminin subunits and 71/74 downregulated (pqac-00000012, pqac-00000013, pqac-00000014) | Animal multi-omics | Balakrishnan et al., *Transl Res*, Jul 2023, doi:10.1016/j.trsl.2023.01.004 |
| Cardiac gene therapy rescue | AAV9-PGM1 gene replacement prevented and halted progression of dilated cardiomyopathy in the cardiomyocyte-specific knockout mouse model; in the index human comparator case, LVEF fell from 54% at 6 months to 10% by 12 months before transplant (pqac-00000004, pqac-00000017, pqac-00000018) | Animal therapeutic study with human comparator case | Balakrishnan et al., *Transl Res*, Jul 2023, doi:10.1016/j.trsl.2023.01.004 |
| Clinical trial: ORL-1G | Phase 1/2, single-group pediatric trial; estimated enrollment 5; primary completion Oct 31, 2019; primary outcome was decrease in plasma liver enzymes at 3 months; secondary outcome was transferrin glycosylation improvement by day 30 (pqac-00000019) | Interventional trial registry | NCT03404856, Orpha Labs, study start Oct 31, 2017 |
| Clinical trial: AVTX-801 | Phase 2b randomized double-blind placebo-controlled crossover trial; planned enrollment 8 adults; AVTX-801 1.5 g/kg/day (max 50 g/day); estimated start Oct 1, 2026; primary endpoint is proportion with PGM1-CDG-related events during treatment periods (pqac-00000020) | Interventional trial registry | NCT05402332, Icahn School of Medicine at Mount Sinai, status verified Mar 2026 |


*Table: This table compiles the most decision-relevant quantitative findings for PGM1-CDG across clinical cohorts, treatment outcomes, mechanistic models, and registered trials. It is useful as a compact evidence map for disease characterization and management planning.*