| Year | Study type | Key finding | Quantitative data | DOI/URL |
|---|---|---|---|---|
| 2023 | Human autopsy brain lipidomics/proteomics | Juvenile CLN3 disease behaves as a lysosomal cholesterol storage disorder with late endosome/lysosome profiles resembling Niemann-Pick type C disease (pqac-00000007, pqac-00000008, pqac-00000009) | Human samples: controls n=6, JNCL n=5, NPC n=4; cholesterol accumulated in LE/Lys of JNCL to a comparable extent to NPC; JNCL and NPC LE/Lys protein signatures were described as essentially indistinguishable (pqac-00000007, pqac-00000008) | 10.1016/j.ebiom.2023.104628 / https://doi.org/10.1016/j.ebiom.2023.104628 |
| 2023 | Human CSF biomarker discovery | CSF proteomics identified candidate surrogate biomarkers for disease progression and therapeutic response in CLN3 (pqac-00000039, pqac-00000041, pqac-00000060) | Discovery cohorts: 28 CLN3 and 32 non-CLN3 for PEA; 20 CLN3 and 25 non-CLN3 for MS; PEA profiled 1467 proteins and found 54 candidates at adjusted p<0.1 and fold-change threshold 1.5; MS found 233 candidates; 25 overlapped across methods; key log2 FCs: CHIT1 +2.69 (PEA), +1.50 (MS); NELL1 -1.29 (PEA), -1.10 (MS); ISLR2 -1.28 (PEA), -1.25 (MS); NEFL +2.79 by PEA (pqac-00000039, pqac-00000041, pqac-00000060) | 10.1021/acs.jproteome.3c00199 / https://doi.org/10.1021/acs.jproteome.3c00199 |
| 2024 | Human electrophysiology biomarker study | Duration-evoked MMN ERP shows impaired auditory sensory-memory processing and potential as a brain-based biomarker in CLN3 (pqac-00000011, pqac-00000016) | Final analyzed cohort: CLN3 n=21 (age 6-28 y), controls n=41 (age 6-26 y); MMN robust at 900 ms SOA, significantly reduced at 450 ms, and not detectable at 1800 ms in CLN3 relative to controls (pqac-00000011, pqac-00000016) | 10.1186/s11689-023-09515-8 / https://doi.org/10.1186/s11689-023-09515-8 |
| 2023 | Human ocular phenotype/diagnostic biomarker series | Early ocular biomarkers can facilitate recognition of CLN3, especially electronegative ERG plus characteristic multimodal retinal imaging abnormalities (pqac-00000018, pqac-00000020, pqac-00000021) | 5 unrelated children; 4 females/1 male; median age 6.2 y (range 4.6-11.7); BCVA 0.18-0.88 logMAR at first presentation; electronegative ERG in all; bull's-eye maculopathy in all; FAF hyper-autofluorescent ring around hypo-autofluorescent fovea; OCT foveal ellipsoid-zone disruption in all (pqac-00000018, pqac-00000020) | 10.1007/s10633-023-09930-1 / https://doi.org/10.1007/s10633-023-09930-1 |
| 2024 | In vitro human RPE CLN3-KO model | TRPML1 activation partially rescues lysosomal storage phenotypes in CLN3-deficient retinal pigment epithelial cells (pqac-00000052, pqac-00000053, pqac-00000054, pqac-00000055) | CLN3-KO ARPE-19 cells accumulated LAMP1+ organelles, SubC, Gb3, and GPDs, with decreased BMP/LBPA; TRPML1 agonist ML-SA5 reduced Gb3 and SubC and rapidly lowered GPDs (many significantly reduced by 90 min, further by 72 h), but did not normalize BMP/LBPA; rescue was TFEB-independent and linked to enhanced lysosomal exocytosis (pqac-00000052, pqac-00000053, pqac-00000054) | 10.1038/s41598-024-67479-8 / https://doi.org/10.1038/s41598-024-67479-8 |


*Table: This table compiles recent 2023-2024 CLN3 disease studies spanning human biomarker, imaging, electrophysiology, and mechanistic cell-model research. It is useful for quickly comparing the strongest recent quantitative findings and their translational relevance.*