GM1 Gangliosidosis Type 3 (Adult/Chronic GM1): Disease Characteristics Research Report

Executive summary

GM1 gangliosidosis type 3 (also termed adult-onset, late-onset, or chronic GM1 gangliosidosis) is the mildest end of the GLB1-related GM1 gangliosidosis spectrum and is classically distinguished by later onset and slower progression, often with survival into adulthood. It is caused by biallelic pathogenic variants in GLB1, leading to reduced lysosomal β-galactosidase activity and accumulation of GM1 ganglioside and related substrates, with prominent neurological involvement and heterogeneous movement-disorder presentations (notably dystonia). (d’souza2024gm1gangliosidosistype pages 3-6, roy2026clinicalradiologicaland pages 1-2, casazza2026frommoleculeto pages 1-2)

Table: This table summarizes core disease-definition, genetics, phenotype, imaging, and identifier facts for GM1 gangliosidosis type III. It is useful as a compact reference for a disease knowledge base entry and highlights both canonical adult-onset descriptions and the marked clinical heterogeneity reported in recent literature.

1. Disease information

1.1 What is the disease?

GM1 gangliosidosis is an ultra-rare, inherited lysosomal storage disorder due to deficient lysosomal β-galactosidase activity from pathogenic GLB1 variants, producing progressive neurodegeneration with marked clinical heterogeneity. Type 3 is described as the adult/chronic (least severe) form, typically presenting later than infantile and juvenile forms. (d’souza2024gm1gangliosidosistype pages 3-6, casazza2026frommoleculeto pages 1-2)

1.2 Key identifiers and codes

• ICD-10: E75.1 (GM1 gangliosidosis) (zagaynova2024casereportpreimplantation pages 1-2)
• OMIM/MIM: 230650 (GM1 gangliosidosis, adult/chronic; type III), with related subtype OMIMs 230500 (type I infantile) and 230600 (type II late-infantile/juvenile) (jubran2025novelinsightsinto pages 1-3, d’souza2024gm1gangliosidosistype pages 3-6)
• MeSH: “Gangliosidosis, GM1” (MeSH identifier shown in a GM1/gangliosidoses registry record; mapping provided) (NCT04624789 chunk 2)
• MONDO: Not found in the retrieved evidence corpus; requires external ontology lookup.
• Orphanet: Not found in the retrieved evidence corpus; requires external Orphanet lookup.

1.3 Synonyms and alternative names

Synonyms used in recent sources include “adult form”, “adult-onset”, “late-onset”, and “adult/chronic” GM1 gangliosidosis. (d’souza2024gm1gangliosidosistype pages 3-6, sezer2021chapternineglycolipid pages 24-28, casazza2026frommoleculeto pages 1-2, zagaynova2024casereportpreimplantation pages 1-2)

1.4 Evidence provenance (individual vs aggregated)

The available information in this report comes from: * Aggregated disease-level resources/reviews and natural history studies (e.g., prospective GM1 studies; biomarker reviews; therapy reviews). (d’souza2024gm1gangliosidosistype pages 3-6, casazza2026frommoleculeto pages 1-2, foster2024therapeuticdevelopmentsfor pages 5-6) * Individual patient evidence (e.g., case series describing type III dystonia-dominant phenotypes). (roy2026clinicalradiologicaland pages 1-2, roy2026clinicalradiologicaland pages 2-3) * Preclinical evidence from mouse models and other translational work. (eikelberg2020axonopathyandreduction pages 1-3, liu2024insightsintothe pages 2-5)

2. Etiology

2.1 Disease causal factors

Primary cause (genetic): biallelic pathogenic variants in GLB1 (chromosome 3p21.33), encoding lysosomal β-galactosidase, leading to insufficient enzyme activity and lysosomal substrate accumulation. (roy2026clinicalradiologicaland pages 1-2, d’souza2024gm1gangliosidosistype pages 3-6)

Inheritance: autosomal recessive is explicitly stated in type-III case series and other GM1 descriptions in the retrieved corpus. (roy2026clinicalradiologicaland pages 1-2, sezer2021chapternineglycolipid pages 24-28)

2.2 Risk factors

• Genetic risk factor: presence of biallelic pathogenic GLB1 variants (causal). (roy2026clinicalradiologicaland pages 1-2, d’souza2024gm1gangliosidosistype pages 3-6)
• No environmental or infectious risk factors are described in the retrieved evidence for type III; this is expected for a Mendelian lysosomal disease.

2.3 Protective factors

No validated protective genetic or environmental factors for GM1 type III were identified in the retrieved evidence.

2.4 Gene–environment interactions

No gene–environment interaction evidence specific to GM1 type III was identified in the retrieved corpus.

3. Phenotypes (Type III focus)

3.1 Core phenotype concepts

Type III is described as the mildest and slowest-progressing GM1 phenotype and the form in which survival into adulthood is typical. (casazza2026frommoleculeto pages 1-2)

3.2 Age of onset, severity, progression

• Type III is classically described as presenting in the 2nd–3rd decade. (d’souza2024gm1gangliosidosistype pages 3-6)
• However, multiple sources emphasize heterogeneity; one GLB1-focused type III series described type III as later onset roughly 3–30 years with residual activity, and an Indian video case series reported median onset 6 years (range 3–18) with adult presentations in the 2nd–3rd decade. (roy2026clinicalradiologicaland pages 1-2, zhang2025clinicalandgenetic pages 1-2)

3.3 Common clinical manifestations (with suggested HPO terms)

Movement disorder (dominant phenotype) * Generalized dystonia with prominent oromandibular/lingual/cranio-cervical involvement and universal dysarthria in one series. (roy2026clinicalradiologicaland pages 1-2, roy2026clinicalradiologicaland pages 2-3) * Suggested HPO: Dystonia (HP:0001332); Oromandibular dystonia (HP:0002516); Dysarthria (HP:0001260); Abnormal gait (HP:0001288).

Pyramidal/corticospinal involvement * Corticospinal signs reported in 6/8 in one series. (roy2026clinicalradiologicaland pages 1-2) * Suggested HPO: Spasticity (HP:0001257); Hyperreflexia (HP:0001347).

Parkinsonism (subset) * Parkinsonism reported in 2/8 in one type III series; broader GLB1 movement-disorder systematic review indicates frequent parkinsonism in reported GLB1 cases, though not restricted to type III. (roy2026clinicalradiologicaland pages 1-2, rodriguezantiguedad2025genotype–phenotyperelationsfor pages 9-10) * Suggested HPO: Parkinsonism (HP:0001300); Bradykinesia (HP:0002067).

Cognition/development (variable) * Cognitive dysfunction may be absent early; one series reported global developmental delay in 1 patient and intellectual disability in 4/8. (roy2026clinicalradiologicaland pages 2-3) * Suggested HPO: Intellectual disability (HP:0001249); Global developmental delay (HP:0001263).

Skeletal/vertebral involvement * Adult/chronic type III described with dystonia and vertebral abnormalities in a glycolipid disorders chapter; type III series noted no skeletal abnormalities in their cohort, illustrating variability and overlap with Morquio B depending on variant. (sezer2021chapternineglycolipid pages 24-28, roy2026clinicalradiologicaland pages 2-3) * Suggested HPO: Abnormality of the vertebral column (HP:0003468); Kyphoscoliosis (HP:0002751).

3.4 Imaging features (type III and broader GM1)

• Type III series described bilateral posterior putaminal T2/FLAIR abnormalities and pallidal SWI “wishbone” sign. (roy2026clinicalradiologicaland pages 1-2)
• Reviews note broader GM1 neuroimaging patterns: diffuse white-matter abnormalities, thalamic/basal ganglia signal changes, cortical/cerebellar atrophy, ventriculomegaly, and diffusion-based evidence of progressive white-matter microstructure loss. (casazza2026frommoleculeto pages 1-2)
• Suggested HPO: Abnormality of the basal ganglia (HP:0002134); Cerebellar atrophy (HP:0001272); Cerebral atrophy (HP:0002059); Ventriculomegaly (HP:0002119).

3.5 Quality of life and caregiver burden

A qualitative US caregiver study (patients with juvenile/late-onset GM1 and GM2) reported high rates of speech difficulties (83.3%) and mobility aid use (64.3%) among affected individuals and substantial caregiver psychological/physical/financial burden; while not limited to type III only, it reflects real-world impact of chronic/late-onset gangliosidoses. (kell2023apentasaccharidefor pages 1-2)

4. Genetic / molecular information

4.1 Causal gene

• GLB1 encodes lysosomal β-galactosidase required for GM1 ganglioside degradation; pathogenic variants cause GM1 gangliosidosis and can overlap phenotypically with Morquio B depending on residual function and substrate specificity. (roy2026clinicalradiologicaland pages 1-2, sezer2021chapternineglycolipid pages 24-28)

4.2 Pathogenic variants and genotype–phenotype correlations (type III-relevant)

• Residual β-galactosidase activity is higher in later-onset phenotypes and correlates inversely with severity and earlier onset. (d’souza2024gm1gangliosidosistype pages 3-6, sezer2021chapternineglycolipid pages 24-28)
• A type III case series notes typical residual activity of ~5–10% and provides variant examples including recurrent c.1325G>A (p.Arg442Gln) and a novel c.1022G>T (p.Gly341Val) in their cohort (n=8). (roy2026clinicalradiologicaland pages 1-2)
• A Chinese family report summarizes that GLB1 has 16 exons and that many ClinVar-listed variants are missense and frequently compound heterozygous; it describes the adult/late-onset form as generally milder and variable, with broad onset ranges reported (3–30 years). (zhang2025clinicalandgenetic pages 1-2)

Variant classification notes: one case report illustrates ACMG challenges (a homozygous GLB1 variant classified as VUS despite a consistent phenotype), emphasizing the need for enzymatic and phenotypic correlation. (srivastava2026novelgalactosidasebeta1variant pages 1-3)

4.3 Modifier genes / epigenetics / chromosomal abnormalities

No validated modifier genes, epigenetic mechanisms, or chromosomal structural abnormalities specific to GM1 type III were identified in the retrieved evidence.

5. Environmental information

No non-genetic environmental or infectious contributors were identified in the retrieved evidence; GM1 type III is a Mendelian lysosomal disorder driven by GLB1 dysfunction. (roy2026clinicalradiologicaland pages 1-2)

6. Mechanism / pathophysiology

6.1 Core biochemical defect and causal chain

GLB1 deficiency → lysosomal storage → neuronal/glial dysfunction → neurodegeneration/motor phenotype. * GM1 gangliosidosis is mechanistically linked to reduced/absent lysosomal β-galactosidase, causing lysosomal accumulation of GM1 ganglioside (and related derivatives). (casazza2026frommoleculeto pages 3-4, liu2024insightsintothe pages 1-2) * In a Glb1−/− mouse model, substrates elevated in brain include GM1 and GA1 and other lipids; storage extends into axons, with amyloid precursor protein–positive spheroids, altered axonal transport markers, and prominent gliosis. (eikelberg2020axonopathyandreduction pages 1-3)

6.2 Cellular processes and pathways implicated (recent multi-omic insight)

A 2024 single-nucleus RNA-seq study in a Glb1G455R/G455R mouse model found cell-type-specific transcriptomic changes across neurons and glia and implicated disrupted oxidative phosphorylation and neuroactive ligand–receptor interaction pathways; the authors argue neurotransmitter/circuit dysfunction may contribute more than canonical neuroinflammatory activation at the examined timepoint. (liu2024insightsintothe pages 1-2, liu2024insightsintothe pages 2-5)

6.3 Cell types and tissues (with suggested CL/UBERON/GO terms)

Key cell types (supported by snRNA-seq cell annotations): neurons, microglia, astrocytes, oligodendrocytes, OPCs, pericytes. (liu2024insightsintothe pages 2-5) * Suggested CL terms: Neuron (CL:0000540); Microglial cell (CL:0000129); Astrocyte (CL:0000127); Oligodendrocyte (CL:0000128); Oligodendrocyte precursor cell (CL:0002453); Pericyte (CL:0000669).

Primary anatomical system: CNS (brain; basal ganglia involvement prominent in imaging and phenotype). (roy2026clinicalradiologicaland pages 1-2, casazza2026frommoleculeto pages 1-2) * Suggested UBERON terms: Brain (UBERON:0000955); Basal ganglion (UBERON:0002420); Putamen (UBERON:0001874).

Suggested GO biological processes (inferred from described enrichments and mechanisms): * Synapse organization (GO:0050808); Axonogenesis (GO:0007409); Oxidative phosphorylation (GO:0006119); Autophagy (GO:0006914); Neuron projection development (GO:0031175). (liu2024insightsintothe pages 13-15, liu2024insightsintothe pages 2-5)

6.4 Biochemical abnormalities and related substrates

• GM1 and related derivatives accumulate; GA1 may increase in mouse brain via alternative pathways. (eikelberg2020axonopathyandreduction pages 1-3)
• Keratan sulfate is discussed as relevant to GLB1-related phenotypic overlap (Morquio B) and appears as a urinary biomarker in infantile disease; late-onset/type III-specific keratan sulfate behavior was not established in retrieved sources. (casazza2026frommoleculeto pages 3-4, menkovic2025persistentelevationsof pages 1-2)

7. Anatomical structures affected

7.1 Organ/system level

• Predominant involvement is neurological (CNS) with movement disorder phenotype and neuroimaging changes affecting basal ganglia and white matter. (roy2026clinicalradiologicaland pages 1-2, casazza2026frommoleculeto pages 1-2)
• Some juvenile/type II sources note potential cardiac valvular thickening; type III-specific rates were not identified in retrieved evidence. (d’souza2024gm1gangliosidosistype pages 3-6)

7.2 Tissue/cellular/subcellular level

• Lysosomal storage within neurons and axons, with glial activation/gliosis in some models. (eikelberg2020axonopathyandreduction pages 1-3)
• Subcellular compartment: lysosome (implied throughout and supported by lysosomal storage descriptions and LAMP1 use in preclinical studies). (eikelberg2020axonopathyandreduction pages 1-3, matsushima2025adenoassociatedvirusexpressing pages 17-22)
• Suggested GO-CC: Lysosome (GO:0005764).

8. Temporal development

8.1 Onset pattern

Type III is generally late childhood through adulthood with slow progression, but the clinical onset window is heterogeneous and can include childhood onset with adult presentation later. (d’souza2024gm1gangliosidosistype pages 3-6, roy2026clinicalradiologicaland pages 1-2, casazza2026frommoleculeto pages 1-2)

8.2 Progression patterns

Type III is characterized as slow/protracted; detailed staging schemas specific to type III were not identified in the retrieved corpus. (casazza2026frommoleculeto pages 1-2)

9. Inheritance and population

9.1 Epidemiology

Direct incidence/prevalence for type III specifically was not available in retrieved evidence. * A 2025 Chinese family report provides a general GM1 incidence estimate of ~1:100,000–1:200,000 newborns (not subtype-specific). (zhang2025clinicalandgenetic pages 1-2)

9.2 Population demographics / founder effects

No subtype III-specific founder variants or carrier frequencies were identified in the retrieved evidence. A type III series reported recurrent variant c.1325G>A (p.Arg442Gln) in 7/8 patients in their cohort, which may suggest local enrichment but does not establish a founder effect without population genetics analysis. (roy2026clinicalradiologicaland pages 1-2)

10. Diagnostics

10.1 Clinical tests and genetic testing (real-world implementation)

Core confirmatory approach consists of: 1) β-galactosidase enzyme assay (e.g., leukocytes/fibroblasts/DBS), and/or 2) GLB1 sequencing (molecular confirmation). (casazza2026frommoleculeto pages 1-2, d’souza2024gm1gangliosidosistype pages 3-6)

A prospective GM1 study notes diagnosis by enzyme and/or biallelic pathogenic GLB1 variants in a CLIA-certified lab. (d’souza2024gm1gangliosidosistype pages 3-6)

Newborn screening context: A biomarker review notes DBS enzymatic assays as preferred first-tier NBS method for GM1 and discusses tandem MS/MS and digital microfluidics platforms (implementation details, but not type III-specific). (casazza2026frommoleculeto pages 4-5)

10.2 Biomarkers and imaging

Fluid biomarkers (recent synthesis): * CSF GM1 ganglioside and related lysosphingolipids are described as primary substrate markers; NfL is described as “consistently elevated” and promising (disease monitoring). (casazza2026frommoleculeto pages 1-2) * A 2023 eBioMedicine paper describes a glycan/pentasaccharide biomarker H3N2b that was “more than 18-fold” elevated in patient CSF/plasma/urine and decreased following AAV gene therapy in animals and a treated patient, supporting pharmacodynamic monitoring. (kell2023apentasaccharidefor pages 2-3, kell2023apentasaccharidefor pages 1-2)

Neuroimaging biomarkers: structural MRI, MRS, and diffusion-based measures track tissue loss and microstructural deterioration; severe anatomical distortion can limit atlas-based segmentation and motivate manual/semi-automated approaches. (casazza2026frommoleculeto pages 1-2)

10.3 Differential diagnosis

Not systematically extractable for type III from the retrieved evidence corpus; however, the dominant dystonia/parkinsonism phenotype overlaps with other genetic movement disorders and lysosomal disorders (inferred by GLB1 inclusion in movement-disorder gene reviews). (rodriguezantiguedad2025genotype–phenotyperelationsfor pages 9-10)

11. Outcomes / prognosis

Type III is described as slow-progressing with survival into adulthood. (casazza2026frommoleculeto pages 1-2)

Subtype-specific survival curves and mortality statistics for type III were not identified in the retrieved evidence corpus.

12. Treatment

12.1 Current standard of care

No disease-modifying therapy is established/approved in the retrieved evidence; management is primarily supportive and symptomatic, with trial readiness emphasizing biomarkers and standardized endpoints. (casazza2026frommoleculeto pages 1-2, foster2024therapeuticdevelopmentsfor pages 5-6)

12.2 Recent developments (2023–2024 prioritized)

Gene therapy clinical trials (AAV-based GLB1 delivery): * A prospective GM1 type II study explicitly notes ongoing trials using gene therapy and small-molecule substrate inhibitors, citing NCT IDs NCT03952637, NCT04713475, and NCT04221451 (the latter is a substrate inhibitor trial referenced in that context). (d’souza2024gm1gangliosidosistype pages 3-6) * A 2023 review of sphingolipid disorder gene therapy lists three GM1 AAV trials and provides NCT IDs and key design features: * NCT03952637: Phase 1/2, IV AAV9-GLB1 (Type I/II). * NCT04273269: intracisternal AAVrh.10-GLB1 (listed as GM1 program; terminated per registry evidence). * NCT04713475: cisterna magna AAVhu68-GLB1 (PBGM01) (Type I/IIa). (shaimardanova2023genetherapyof pages 4-6)

ClinicalTrials.gov registry evidence (real-world implementation/status): * NCT03952637 (AAV9 IV gene transfer): recruiting (registry snapshot in retrieved trials list). (NCT04624789 chunk 2) * NCT04713475 (PBGM01 cisterna magna): active not recruiting. (NCT04624789 chunk 2) * NCT04273269 (LYSOGENE LYS-GM101): terminated. (NCT04624789 chunk 2) * NCT04320329: natural history of Morquio B and late-onset GM1 gangliosidosis (directly relevant to type III/late onset). (NCT04624789 chunk 2)

Substrate reduction therapy (SRT): A 2024 therapy review (Frontiers in Neuroscience; 2024-04-xx; https://doi.org/10.3389/fnins.2024.1392683) notes clinical investigation of oral miglustat in small cohorts and in a US infantile GM1 trial (NCT02030015) that was unsuccessful, illustrating limits of SRT as studied to date. (foster2024therapeuticdevelopmentsfor pages 5-6, casazza2026frommoleculeto pages 17-17)

Pharmacological chaperones and small molecules: A biomarker-focused review lists chaperone-like small molecules (e.g., NOEV/NOV) and discusses iPSC-enabled drug screening that identified autophagy-activating compounds reducing GM1 accumulation in vitro and in vivo (preclinical; not type III-specific). (casazza2026frommoleculeto pages 17-17)

Gene editing (research-stage): A 2023 CRISPR Journal study reports base-editing correction of GLB1 pathogenic SNVs in patient-derived fibroblasts, restoring β-galactosidase activity to therapeutic levels in vitro, supporting gene editing as a potential future strategy. (kell2023apentasaccharidefor pages 2-3)

12.3 MAXO (Medical Action Ontology) suggestions

• Supportive care / symptom management: MAXO:0000005 (medical care) (suggested)
• Enzyme activity assay / biochemical testing: MAXO:0000056 (laboratory test) (suggested)
• Gene therapy: MAXO:0001001 (gene therapy) (suggested)
• Substrate reduction therapy: MAXO:0000753 (substrate reduction therapy) (suggested)
• Genetic counseling / reproductive planning: MAXO:0000015 (genetic counseling) (suggested)

13. Prevention

Primary prevention is not applicable in the traditional sense for an autosomal recessive Mendelian disorder, but reproductive options and screening can reduce affected births in at-risk families.

• A 2024 case report describes preimplantation genetic testing for monogenic disease (PGT-M) for GLB1 variants in a family with GM1 gangliosidosis, resulting in selection/transfer of an embryo without disease-causing alleles and prenatal confirmation. (zagaynova2024casereportpreimplantation pages 1-2)

14. Other species / natural disease

Direct “natural disease” descriptions in non-human species were not extracted in detail for GM1 type III from the retrieved evidence.

However, translational biomarker and therapy work uses animal models (including cats) to evaluate biomarkers and AAV responses; the pentasaccharide biomarker H3N2b was elevated in GM1 cats and decreased after IV AAV9 treatment. (kell2023apentasaccharidefor pages 2-3)

15. Model organisms

15.1 Mouse models (mechanism and multi-omics)

• Glb1−/− mice show CNS storage, axonopathy, and gliosis with lipid elevations (GM1, GA1, sphingomyelin, phosphatidylcholine, phosphatidylserine), enabling mechanistic studies and therapy testing. (eikelberg2020axonopathyandreduction pages 1-3)
• A 2024 snRNA-seq study in a Glb1G455R/G455R mouse model provides cell-type-resolved transcriptomic changes implicating synaptic/circuit disruption and metabolic pathway perturbations. (liu2024insightsintothe pages 2-5, liu2024insightsintothe pages 1-2)

15.2 Ocular/retinal pathology model

A 2025 Scientific Reports study in Glb1−/− mice describes retinal neuronal degeneration and reactive gliosis in a murine model, supporting use for ocular manifestations and glial activation studies. (jubran2025novelinsightsinto pages 1-3)

Recent developments (2023–2024) and expert analysis highlights

• Biomarker maturation for trials: Recent reviews emphasize multimodal endpoints (CSF gangliosides/lysosphingolipids, glycans, NfL, quantitative MRI/MRS/diffusion imaging) and the need for standardized methods and genotype-stratified natural history datasets. (casazza2026frommoleculeto pages 1-2)
• Trial landscape is rapidly evolving: A 2024 therapy review summarizes active clinical-trial approaches including gene therapy and miglustat, with a consolidated trial table (Table 1) that is widely used by clinicians/researchers to track GM1 programs. (foster2024therapeuticdevelopmentsfor media 70a6c6d4)

Notable data gaps specific to GM1 type III (adult/chronic)

Despite strong mechanistic understanding of GLB1 deficiency, type III-specific epidemiology (incidence/prevalence), survival statistics, and validated biomarker cutoffs remain limited in the retrieved corpus; many robust longitudinal datasets and trial-readiness measures are focused on infantile/juvenile disease. (casazza2026frommoleculeto pages 1-2, zhang2025clinicalandgenetic pages 1-2)

URLs and publication dates (for key 2023–2024 sources cited)

• D’Souza et al., “GM1 Gangliosidosis Type II: Results of a 10-Year Prospective Study,” Genetics in Medicine, 2024-04. https://doi.org/10.1016/j.gim.2024.101144 (d’souza2024gm1gangliosidosistype pages 3-6)
• Foster et al., “Therapeutic developments for neurodegenerative GM1 gangliosidosis,” Frontiers in Neuroscience, 2024-04. https://doi.org/10.3389/fnins.2024.1392683 (foster2024therapeuticdevelopmentsfor pages 5-6)
• Liu et al., “Insights into the Pathobiology of GM1 Gangliosidosis from Single-Nucleus Transcriptomic Analysis…,” Int J Mol Sci, 2024-09. https://doi.org/10.3390/ijms25179712 (liu2024insightsintothe pages 1-2)
• Kell et al., “A pentasaccharide for monitoring pharmacodynamic response to gene therapy in GM1 gangliosidosis,” eBioMedicine, 2023-06. https://doi.org/10.1016/j.ebiom.2023.104627 (kell2023apentasaccharidefor pages 2-3)
• Kido et al., “Gene therapy for lysosomal storage diseases: Current clinical trial prospects,” Frontiers in Genetics, 2023-01. https://doi.org/10.3389/fgene.2023.1064924 (kido2023genetherapyfor pages 3-4)
• Zagaynova et al., “Case report: Preimplantation genetic testing for infantile GM1 gangliosidosis,” Frontiers in Genetics, 2024-02. https://doi.org/10.3389/fgene.2024.1344051 (zagaynova2024casereportpreimplantation pages 1-2)

Figure/Table evidence note

A therapy-trial summary table for GM1 gangliosidosis (Table 1) was directly inspected from the 2024 Frontiers in Neuroscience review and is cited here as visual evidence of the clinical trial landscape. (foster2024therapeuticdevelopmentsfor media 70a6c6d4)

References

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