GM1 gangliosidosis

Summary

GM1 gangliosidosis (MONDO:0018149) is a disease caused by GLB1 (GenCC Definitive), with 2 cohort genes and 14 clinical trials. Top therapeutic interventions include alemtuzumab, busulfan, and clofarabine.

At a glance

• Prevalence: 1-9 / 1 000 000 (Europe) [Orphanet-validated]
• Causal gene: GLB1 (GenCC Definitive)
• Cohort genes: 2
• ClinVar variants: 960
• Phenotypes (HPO): 89
• Clinical trials: 14

Clinical features

Epidemiology

Prevalence records

4 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Prevalence at birth	1-9 / 1 000 000	0.75	Europe	Validated
Prevalence at birth	1-5 / 10 000	27	Malta	Validated
Prevalence at birth	1-9 / 100 000	5.9	Brazil	Validated
Prevalence at birth	1-9 / 1 000 000	0.34	Sweden	Validated

Signs & symptoms

Clinical features (HPO)

89 HPO clinical features (Orphanet curated; top 50 by frequency):

HPO ID	Term	Frequency
HP:0000280	Coarse facial features	Very frequent (80-99%)
HP:0000457	Depressed nasal ridge	Very frequent (80-99%)
HP:0000639	Nystagmus	Very frequent (80-99%)
HP:0000940	Abnormal diaphysis morphology	Very frequent (80-99%)
HP:0000944	Abnormal metaphysis morphology	Very frequent (80-99%)
HP:0001347	Hyperreflexia	Very frequent (80-99%)
HP:0001744	Splenomegaly	Very frequent (80-99%)
HP:0001824	Weight loss	Very frequent (80-99%)
HP:0002383	Infectious encephalitis	Very frequent (80-99%)
HP:0002829	Arthralgia	Very frequent (80-99%)
HP:0004345	Abnormality of ganglioside metabolism	Very frequent (80-99%)
HP:0005930	Abnormality of epiphysis morphology	Very frequent (80-99%)
HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	Very frequent (80-99%)
HP:0100670	Rough bone trabeculation	Very frequent (80-99%)
HP:0410263	Brain imaging abnormality	Very frequent (80-99%)
HP:0008166	Decreased beta-galactosidase activity	Very frequent (80-99%)
HP:0002011	Morphological central nervous system abnormality	Very frequent (80-99%)
HP:0000023	Inguinal hernia	Frequent (30-79%)
HP:0000158	Macroglossia	Frequent (30-79%)
HP:0000212	Gingival overgrowth	Frequent (30-79%)
HP:0000303	Mandibular prognathia	Frequent (30-79%)
HP:0000486	Strabismus	Frequent (30-79%)
HP:0000951	Abnormality of the skin	Frequent (30-79%)
HP:0001250	Seizure	Frequent (30-79%)
HP:0001251	Ataxia	Frequent (30-79%)
HP:0001252	Hypotonia	Frequent (30-79%)
HP:0001257	Spasticity	Frequent (30-79%)
HP:0001337	Tremor	Frequent (30-79%)
HP:0001387	Joint stiffness	Frequent (30-79%)
HP:0002230	Generalized hirsutism	Frequent (30-79%)
HP:0002652	Skeletal dysplasia	Frequent (30-79%)
HP:0003307	Hyperlordosis	Frequent (30-79%)
HP:0003312	Abnormal form of the vertebral bodies	Frequent (30-79%)
HP:0004322	Short stature	Frequent (30-79%)
HP:0007325	Generalized dystonia	Frequent (30-79%)
HP:0100022	Abnormality of movement	Frequent (30-79%)
HP:0100490	Camptodactyly of finger	Frequent (30-79%)
HP:0001627	Abnormal heart morphology	Frequent (30-79%)
HP:0002071	Abnormality of extrapyramidal motor function	Frequent (30-79%)
HP:0002500	Abnormal cerebral white matter morphology	Frequent (30-79%)
HP:0000924	Abnormality of the skeletal system	Frequent (30-79%)
HP:0100543	Cognitive impairment	Frequent (30-79%)
HP:0002376	Developmental regression	Frequent (30-79%)
HP:0001508	Failure to thrive	Frequent (30-79%)
HP:0001288	Gait disturbance	Frequent (30-79%)
HP:0001263	Global developmental delay	Frequent (30-79%)
HP:0001433	Hepatosplenomegaly	Frequent (30-79%)
HP:0002167	Abnormality of speech or vocalization	Frequent (30-79%)
HP:0001072	Thickened skin	Frequent (30-79%)
HP:0002317	Unsteady gait	Frequent (30-79%)

Identifiers

Disease identifiers

Field	Value
Canonical name	GM1 gangliosidosis
Mondo ID	MONDO:0018149
MeSH	D016537
Orphanet	354
DOID	DOID:3322
ICD-11	401105928
NCIT	C84739
SNOMED CT	124465002, 238025006
UMLS	C0085131
MedGen	43107
GARD	0010891
Is cancer (heuristic)	no

Also known as: Beta galactosidase 1 deficiency · Beta-galactosidase-1 deficiency · Beta-galactosidosis · gangliosidosis GM1 · GLB 1 deficiency · GLB1 deficiency · GM>1< gangliosidosis · Landing disease · Landing syndrome

Data availability: 960 ClinVar variants · 2 GenCC gene-disease records · 30 cell lines.

Disease family

An umbrella term covering 3 Mondo subtypes.

Classification path: disease › human disease › disease by body system or component › disorder of orbital region › eye disorder › GM1 gangliosidosis

Related subtypes (119): ptosis, eye accommodation disease, corneal disorder, asthenopia, lens disorder, keratomalacia, scleral disorder, ocular siderosis, coloboma, luxation of globe, mucopolysaccharidosis type 1, lacrimal apparatus disorder, Foster-Kennedy syndrome, anterior dislocation of lens, uveal disorder, eyelid disorder, ocular hypotension, scotoma, exophthalmos, ophthalmia nodosa, eye degenerative disorder, refractive error, glaucoma, retinal disorder, eye allergy, ocular vascular disorder, optic neuritis, conjunctival disorder, ocular hypertension, Tietz syndrome, Alagille syndrome, glaucoma-sleep apnea syndrome, Marshall syndrome, microcornea-glaucoma-absent frontal sinuses syndrome, nail-patella syndrome, oculodentodigital dysplasia, piebaldism, Sturge-Weber syndrome, cerebrotendinous xanthomatosis, ocular cystinosis, alpha-mannosidosis, megalocornea-intellectual disability syndrome, mucolipidosis type IV, mucopolysaccharidosis type 6, Netherton syndrome, galactosialidosis, Niemann-Pick disease type A, ocular motor apraxia, Cogan type, Peters plus syndrome, isolated Pierre-Robin syndrome, ectodermal dysplasia-blindness syndrome, Sandhoff disease, SHORT syndrome, Sjogren-Larsson syndrome, Smith-Lemli-Opitz syndrome, Tay-Sachs disease, tyrosinemia type II, Ito hypomelanosis, X-linked cone dysfunction syndrome with myopia, red color blindness, oculocerebrorenal syndrome, Lowry-MacLean syndrome, pigment dispersion syndrome, hereditary hyperferritinemia with congenital cataracts, dyssegmental dysplasia-glaucoma syndrome, mevalonic aciduria, familial cavitary optic disk anomaly, blindness - scoliosis - arachnodactyly syndrome, fatty acyl-CoA reductase 1 deficiency, microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, neurotrophic keratopathy, Cogan syndrome, atopic keratoconjunctivitis, rhizomelic chondrodysplasia punctata, Ehlers-Danlos syndrome, kyphoscoliotic type 1, IRVAN syndrome, Rothmund-Thomson syndrome type 2, microcornea-corectopia-macular hypoplasia syndrome, isolated anophthalmia-microphthalmia syndrome, Spasmus nutans, toxic maculopathy due to antimalarial drugs, syndromic recessive X-linked ichthyosis, acute zonal occult outer retinopathy, acute annular outer retinopathy, phakomatosis pigmentovascularis, lamellar ichthyosis, idiopathic linear interstitial keratitis, chondroectodermal dysplasia with night blindness, galactosemia, Gaucher disease, visual snow syndrome, extensive peripapillary myelinated nerve fibers, IgG4-related ophthalmic disorder, global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome, vernal keratoconjunctivitis, Gardner syndrome, anterior segment dysgenesis, isolated ankyloblepharon filiforme adnatum, hereditary optic neuropathy, essential strabismus, Axenfeld anomaly, eye neoplasm, isolated blepharochalasis, punctate inner choroidopathy, eye infectious disorder, vitreous body disorder, 9q33.3q34.11 microdeletion syndrome, autoimmune/inflammatory optic neuropathy, LTBP2-related ocular dysgenesis, ocular growth disorder, ocular dysgenesis caused by defects in PAX6 regulation, choroidal neovascularization, anterior segment developmental abnormality with extraocular manifestations, congenital optic disk excavation, neuroocular syndrome, isolated angioid streaks, multiple evanescent white dot syndrome, stellate multiform amelanotic choroidopathy, macular telangiectasia

Subtypes (3): GM1 gangliosidosis type 1, GM1 gangliosidosis type 2, GM1 gangliosidosis type 3

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

ClinVar germline variants

600 retrieved; paginated sample, class counts are floors:

347 likely benign, 129 uncertain significance, 49 pathogenic, 25 pathogenic/likely pathogenic, 21 likely pathogenic, 18 conflicting classifications of pathogenicity, 8 benign, 3 benign/likely benign

ClinVar	Variant (HGVS)	Gene	Classification	Review
1057305	NM_000404.4(GLB1):c.1388T>C (p.Leu463Pro)	GLB1	Pathogenic	criteria provided, single submitter
1063917	NM_000404.4(GLB1):c.107A>G (p.Tyr36Cys)	GLB1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1066585	NM_000404.4(GLB1):c.557A>C (p.Glu186Ala)	GLB1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1067823	NM_000404.4(GLB1):c.2006dup (p.Asn669fs)	GLB1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1069437	NM_000404.4(GLB1):c.473del (p.Val158fs)	GLB1	Pathogenic	criteria provided, single submitter
1069817	NM_000404.4(GLB1):c.1324C>T (p.Arg442Ter)	GLB1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1070505	NM_000404.4(GLB1):c.1258A>C (p.Thr420Pro)	GLB1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1071414	NM_000404.4(GLB1):c.994G>A (p.Asp332Asn)	GLB1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1075170	NM_000404.4(GLB1):c.964_965del (p.Ser322fs)	GLB1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1075413	NM_000404.4(GLB1):c.1699C>T (p.Gln567Ter)	GLB1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1076248	NM_000404.4(GLB1):c.1580G>A (p.Trp527Ter)	GLB1	Pathogenic	criteria provided, multiple submitters, no conflicts
1251981	NM_000404.4(GLB1):c.1010T>C (p.Leu337Pro)	GLB1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1301844	NM_000404.4(GLB1):c.998A>G (p.Tyr333Cys)	GLB1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1332777	NM_000404.4(GLB1):c.425_428del (p.Lys142fs)	GLB1	Pathogenic	criteria provided, multiple submitters, no conflicts
1353182	NM_000404.4(GLB1):c.569G>A (p.Gly190Asp)	GLB1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1355177	NM_000404.4(GLB1):c.257G>A (p.Trp86Ter)	GLB1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1364568	NM_000404.4(GLB1):c.1479+1G>C	GLB1	Pathogenic	criteria provided, single submitter
1372550	NM_000404.4(GLB1):c.1276T>G (p.Cys426Gly)	GLB1	Pathogenic	criteria provided, single submitter
1378674	NM_000404.4(GLB1):c.1576_1583dup (p.His529fs)	GLB1	Pathogenic	criteria provided, single submitter
1382131	NM_000404.4(GLB1):c.1616G>A (p.Trp539Ter)	GLB1	Pathogenic	criteria provided, single submitter
1395005	NM_000404.4(GLB1):c.424A>T (p.Lys142Ter)	GLB1	Pathogenic	criteria provided, single submitter
1405477	NM_000404.4(GLB1):c.1336dup (p.Ala446fs)	GLB1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1419594	NM_000404.4(GLB1):c.246-2A>G	GLB1	Pathogenic	criteria provided, single submitter
1434135	NM_000404.4(GLB1):c.1574_1583del (p.Gly525fs)	GLB1	Pathogenic	criteria provided, single submitter
1449094	NM_000404.4(GLB1):c.591dup (p.Asp198Ter)	GLB1	Pathogenic	criteria provided, multiple submitters, no conflicts
1452262	NM_000404.4(GLB1):c.397G>T (p.Gly133Ter)	GLB1	Pathogenic	criteria provided, single submitter
1454377	NM_000404.4(GLB1):c.1142del (p.Lys381fs)	GLB1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1457406	NM_000404.4(GLB1):c.1587_1590dup (p.Asp531delinsProTer)	GLB1	Pathogenic	criteria provided, single submitter
1457739	NM_000404.4(GLB1):c.1310del (p.Asn437fs)	GLB1	Pathogenic	criteria provided, single submitter
1473187	NM_000404.4(GLB1):c.435TCT[1] (p.Leu147del)	GLB1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 23 · Orphanet: 4 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

GenCC gene–disease validity (cohort genes)

the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.

Gene	Classification	Inheritance	Disease	Records
GLB1	Definitive	Autosomal recessive	GM1 gangliosidosis	23

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
GLB1	Orphanet:309310	Mucopolysaccharidosis type 4B
GLB1	Orphanet:79255	GM1 gangliosidosis type 1
GLB1	Orphanet:79256	GM1 gangliosidosis type 2
GLB1	Orphanet:79257	GM1 gangliosidosis type 3

Cohort genes → proteins

2 cohort genes, 2 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	2

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
GLB1	HGNC:4298	ENSG00000170266	P16278	Beta-galactosidase	gencc,clinvar
TMPPE	HGNC:33865	ENSG00000188167	Q6ZT21	Transmembrane protein with metallophosphoesterase domain	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
GLB1	Beta-galactosidase	Cleaves beta-linked terminal galactosyl residues from gangliosides, glycoproteins, and glycosaminoglycans.

Protein-family classification

Druggable: 0 · Difficult: 0 · Unknown: 2 · Druggable fraction: 0.0

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

Family	Genes	Fold	FDR
Other/Unknown	2	1.8×	0.312

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
GLB1	Other/Unknown	no		Glycoside_Hdrlase_35, Galactose-bd-like_sf, GH_hydrolase_sf
TMPPE	Other/Unknown	no		Calcineurin-like_PHP, Metallo-depent_PP-like, Metallophosphoesterase

Expression context

Cohort genes with no expression data: 0.

1 cohort gene are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	0
broad (>20)	2
unknown	0

Top tissues across cohort

Tissue	Cohort genes
monocyte	2
mononuclear cell	1
stromal cell of endometrium	1
male germ line stem cell (sensu Vertebrata) in testis	1
primordial germ cell in gonad	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
GLB1	258	ubiquitous	marker	monocyte, mononuclear cell, stromal cell of endometrium
TMPPE	132	ubiquitous	yes	primordial germ cell in gonad, male germ line stem cell (sensu Vertebrata) in testis, monocyte

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
GLB1	1,578
TMPPE	674

Structural data

PDB: 1 · AlphaFold-only: 1 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
GLB1	P16278	8

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
TMPPE	Q6ZT21	91.59

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 30. Enrichment computed across 2 evidence-associated genes (1 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
MPS IV - Morquio syndrome B (Keratin metabolism)	1	5710.0×	0.003	GLB1
MPS IV - Morquio syndrome B (CS/DS degradation)	1	5710.0×	0.003	GLB1
Defective NEU1 causes sialidosis	1	2855.0×	0.004	GLB1
Mucopolysaccharidoses	1	1903.3×	0.004	GLB1
Diseases of carbohydrate metabolism	1	815.7×	0.005	GLB1
Keratan sulfate degradation	1	713.8×	0.005	GLB1
Diseases associated with N-glycosylation of proteins	1	634.4×	0.005	GLB1
Heparan sulfate/heparin (HS-GAG) metabolism	1	543.8×	0.005	GLB1
CS/DS degradation	1	543.8×	0.005	GLB1
Keratan sulfate/keratin metabolism	1	496.5×	0.005	GLB1
HS-GAG degradation	1	496.5×	0.005	GLB1
Sialic acid metabolism	1	326.3×	0.007	GLB1
Glycosphingolipid metabolism	1	300.5×	0.007	GLB1
Synthesis of substrates in N-glycan biosythesis	1	292.8×	0.007	GLB1
Glycosphingolipid catabolism	1	292.8×	0.007	GLB1
Glycosaminoglycan metabolism	1	219.6×	0.008	GLB1
Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein	1	207.6×	0.008	GLB1
Sphingolipid metabolism	1	167.9×	0.010	GLB1
Diseases of glycosylation	1	131.3×	0.012	GLB1
Metabolism of carbohydrates and carbohydrate derivatives	1	120.2×	0.012	GLB1
Diseases of metabolism	1	80.4×	0.018	GLB1
Asparagine N-linked glycosylation	1	60.1×	0.023	GLB1
Metabolism of lipids	1	31.6×	0.041	GLB1
Innate Immune System	1	25.5×	0.049	GLB1
Neutrophil degranulation	1	23.1×	0.052	GLB1
Post-translational protein modification	1	19.2×	0.060	GLB1
Disease	1	13.1×	0.083	GLB1
Immune System	1	13.0×	0.083	GLB1
Metabolism of proteins	1	12.4×	0.084	GLB1
Metabolism	1	11.6×	0.086	GLB1

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
response to cortisone	1	8426.0×	4e-04	GLB1
keratan sulfate proteoglycan catabolic process	1	5617.3×	4e-04	GLB1
response to Thyroglobulin triiodothyronine	1	5617.3×	4e-04	GLB1
galactose catabolic process	1	2808.7×	6e-04	GLB1
ganglioside catabolic process	1	1872.4×	7e-04	GLB1
glycoprotein catabolic process	1	1053.2×	0.001	GLB1
carbohydrate metabolic process	1	135.9×	0.007	GLB1

Therapeutics

Drugs indicated for this disease

No approved or late-stage (phase ≥3) drug is indicated for this disease; the following are in earlier-phase trials only.

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Busulfan.

Drug target analysis

Approved (phase 4): 1 · Phase ≥3: 1 · Phased (≥1): 1 · Undrugged: 1

Druggability breadth: 1 of 2 evidence-associated genes (50%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Genes with an approved drug

The molecule shown is one approved compound that hits the gene — not necessarily a drug of choice or one indicated for this disease.

Symbol	Example approved molecule
GLB1	MIGALASTAT

Top cohort targets by molecule count

Symbol	Molecules	Max phase
GLB1	1	4
TMPPE	0	0

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
MIGALASTAT	4	GLB1

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

Symbol	Assays	Type breakdown
GLB1	124	Binding:123, ADMET:1

Cohort genes with high screening signal

≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.

Symbol	ChEMBL assays
GLB1	124

Pharmacogenomics

Cohort genes with a PharmGKB record: 2; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

1 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

Compound	Max phase	Cohort target (bioactivity)
MIGALASTAT	4	GLB1

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	1	GLB1
B	Phased (≥1) drug, not yet approved	0
C	Druggable family + PDB, no drug	0
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	1	TMPPE

Undrugged target profiles

1 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Symbol	ChEMBL assays	Drugged partners (top 3)
TMPPE	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 14.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	9
PHASE1/PHASE2	2
PHASE2/PHASE3	1
PHASE3	1
PHASE2	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT07054515	PHASE3	RECRUITING	A Study to Evaluate the Safety and Efficacy of Oral Nizubaglustat (AZ-3102) in Late-infantile and Juvenile Forms of Niemann-Pick Type C Disease, GM1 Gangliosidosis or GM2 Gangliosidosis
NCT00176904	PHASE2/PHASE3	COMPLETED	Stem Cell Transplant for Inborn Errors of Metabolism
NCT04713475	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	Study of Safety, Tolerability and Efficacy of PBGM01 in Pediatric Participants With GM1 Gangliosidosis
NCT00383448	PHASE2	COMPLETED	HSCT for High Risk Inherited Inborn Errors
NCT04273269	PHASE1/PHASE2	TERMINATED	A Safety and Efficacy Study of LYS-GM101 Gene Therapy in Patients With GM1 Gangliosidosis
NCT00668187	Not specified	RECRUITING	A Natural History Study of the Gangliosidoses
NCT05368038	Not specified	ENROLLING_BY_INVITATION	ScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening Program
NCT06539169	Not specified	RECRUITING	FLOWER: Following Longitudinal Outcomes With Epidemiology for Rare Diseases
NCT04041102	Not specified	COMPLETED	Natural History Study of Infantile and Juvenile GM1 Gangliosidosis (GM1) Patients
NCT04310163	Not specified	COMPLETED	Interviews and Video Capture in Patients With GM1 Gangliosidosis
NCT04320329	Not specified	UNKNOWN	Natural History of Morquio B and Late-Onset of GM1 Gangliosidosis
NCT04470713	Not specified	COMPLETED	Natural History Study for Pediatric Patients With Early Onset of Either GM1 Gangliosidosis, GM2 Gangliosidoses, or Gaucher Disease Type 2
NCT04624789	Not specified	UNKNOWN	Registry Gangliosidoses
NCT05109793	Not specified	COMPLETED	GM1 and GM2 Gangliosidosis PROspective Neurological Disease TrajectOry Study (PRONTO)

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
ALEMTUZUMAB	4	1
BUSULFAN	4	1
CLOFARABINE	4	1
CYCLOPHOSPHAMIDE ANHYDROUS	4	1
HYDROXYUREA	4	1
LIXMABEGAGENE RELDUPARVOVEC	2	1