mucolipidosis type IV

Summary

mucolipidosis type IV (MONDO:0009653) is a disease caused by MCOLN1 (GenCC Definitive), with 4 cohort genes and 5 clinical trials.

At a glance

• Prevalence: Unknown (Worldwide) [Orphanet-validated]
• Causal gene: MCOLN1 (GenCC Definitive)
• Cohort genes: 4
• ClinVar variants: 907
• Phenotypes (HPO): 27
• Clinical trials: 5

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Prevalence at birth	1-9 / 1 000 000	0.1	Sweden	Validated
Prevalence at birth	1-9 / 100 000	2.5	Specific population	Validated

Signs & symptoms

Clinical features (HPO)

27 HPO clinical features (Orphanet curated; top 27 by frequency):

HPO ID	Term	Frequency
HP:0000486	Strabismus	Very frequent (80-99%)
HP:0000488	Retinopathy	Very frequent (80-99%)
HP:0000613	Photophobia	Very frequent (80-99%)
HP:0000708	Atypical behavior	Very frequent (80-99%)
HP:0001249	Intellectual disability	Very frequent (80-99%)
HP:0001288	Gait disturbance	Very frequent (80-99%)
HP:0001344	Absent speech	Very frequent (80-99%)
HP:0001347	Hyperreflexia	Very frequent (80-99%)
HP:0004345	Abnormality of ganglioside metabolism	Very frequent (80-99%)
HP:0007281	Developmental stagnation	Very frequent (80-99%)
HP:0007957	Corneal opacity	Very frequent (80-99%)
HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	Very frequent (80-99%)
HP:0011020	Abnormality of mucopolysaccharide metabolism	Very frequent (80-99%)
HP:0000639	Nystagmus	Frequent (30-79%)
HP:0001251	Ataxia	Frequent (30-79%)
HP:0001252	Hypotonia	Frequent (30-79%)
HP:0002353	EEG abnormality	Frequent (30-79%)
HP:0000232	Everted lower lip vermilion	Occasional (5-29%)
HP:0000252	Microcephaly	Occasional (5-29%)
HP:0000280	Coarse facial features	Occasional (5-29%)
HP:0000512	Abnormal electroretinogram	Occasional (5-29%)
HP:0000691	Microdontia	Occasional (5-29%)
HP:0000982	Palmoplantar keratoderma	Occasional (5-29%)
HP:0002816	Genu recurvatum	Occasional (5-29%)
HP:0004422	Biparietal narrowing	Occasional (5-29%)
HP:0005105	Abnormal nasal morphology	Occasional (5-29%)
HP:0007703	Abnormality of retinal pigmentation	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	mucolipidosis type IV
Mondo ID	MONDO:0009653
OMIM	252650
Orphanet	578
DOID	DOID:0080490
ICD-10-CM	E75.11
NCIT	C84896
SNOMED CT	111384001, 725296006
UMLS	C0238286
MedGen	68663
GARD	0000094
NORD	1460
Is cancer (heuristic)	no

Also known as: Berman syndrome · ganglioside neuraminidase deficiency · ganglioside sialidase deficiency · ML 4 · ML IV · ML4 · MLIV · Mucolipidosis IV · mucolipidosis IV · mucolipidosis type 4 · mucolipidosis type IV · sialolipidosis

Data availability: 907 ClinVar variants · 7 GenCC gene-disease records · 13 cell lines.

Disease family

Classification path: disease › human disease › disease by body system or component › disorder of orbital region › eye disorder › mucolipidosis type IV

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, 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, GM1 gangliosidosis, 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

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:

440 likely benign, 60 uncertain significance, 30 pathogenic, 24 likely pathogenic, 20 conflicting classifications of pathogenicity, 16 pathogenic/likely pathogenic, 9 benign, 1 benign/likely benign

ClinVar	Variant (HGVS)	Gene	Classification	Review
2426564	NC_000019.9:g.(?6361586)(8212364_?)del	ADGRE1	Pathogenic	criteria provided, single submitter
1878328	NC_000019.10:g.7521739_7528168del	LOC130063376	Pathogenic	criteria provided, single submitter
1067111	NM_020533.3(MCOLN1):c.405+1G>C	MCOLN1	Pathogenic	criteria provided, single submitter
1068939	NM_020533.3(MCOLN1):c.594del (p.Glu199fs)	MCOLN1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1072052	NM_020533.3(MCOLN1):c.159C>A (p.Cys53Ter)	MCOLN1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1072635	NM_020533.3(MCOLN1):c.169C>T (p.Arg57Ter)	MCOLN1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1072781	NM_020533.3(MCOLN1):c.724del (p.Leu242fs)	MCOLN1	Pathogenic	criteria provided, single submitter
1074644	NM_020533.3(MCOLN1):c.499C>T (p.Gln167Ter)	MCOLN1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1323272	NM_020533.3(MCOLN1):c.278del (p.Phe93fs)	MCOLN1	Pathogenic	criteria provided, single submitter
1377765	NM_020533.3(MCOLN1):c.419del (p.Pro140fs)	MCOLN1	Pathogenic	criteria provided, single submitter
1386426	NM_020533.3(MCOLN1):c.948dup (p.Ala317fs)	MCOLN1	Pathogenic	criteria provided, single submitter
1402137	NM_020533.3(MCOLN1):c.66T>G (p.Tyr22Ter)	MCOLN1	Pathogenic	criteria provided, single submitter
1414260	NM_020533.3(MCOLN1):c.165del (p.Lys55fs)	MCOLN1	Pathogenic	criteria provided, single submitter
1451357	NM_020533.3(MCOLN1):c.230del (p.Thr77fs)	MCOLN1	Pathogenic	criteria provided, single submitter
1452230	NM_020533.3(MCOLN1):c.95dup (p.Pro33fs)	MCOLN1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1452538	NM_020533.3(MCOLN1):c.654C>A (p.Tyr218Ter)	MCOLN1	Pathogenic	criteria provided, single submitter
1453483	NM_020533.3(MCOLN1):c.504del (p.Tyr169fs)	MCOLN1	Pathogenic	criteria provided, single submitter
1454517	NM_020533.3(MCOLN1):c.1627C>T (p.Gln543Ter)	MCOLN1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1455180	NM_020533.3(MCOLN1):c.844C>T (p.Gln282Ter)	MCOLN1	Pathogenic	criteria provided, single submitter
1456674	NC_000019.9:g.(?7587627)(7587677_?)del	MCOLN1	Pathogenic	criteria provided, single submitter
1460387	NM_020533.3(MCOLN1):c.507C>G (p.Tyr169Ter)	MCOLN1	Pathogenic	criteria provided, single submitter
1468549	NM_020533.3(MCOLN1):c.405+2T>C	MCOLN1	Pathogenic	criteria provided, single submitter
1725915	NM_020533.3(MCOLN1):c.608del (p.Pro203fs)	MCOLN1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1997684	NM_020533.3(MCOLN1):c.1005G>A (p.Trp335Ter)	MCOLN1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2005775	NM_020533.3(MCOLN1):c.1569del (p.Ile524fs)	MCOLN1	Pathogenic	criteria provided, single submitter
2055678	NM_020533.3(MCOLN1):c.1208_1218del (p.Arg403fs)	MCOLN1	Pathogenic	criteria provided, single submitter
208020	AF287270:g.511_6943del	MCOLN1	Pathogenic	no assertion criteria provided
208021	NM_020533.3(MCOLN1):c.694A>C (p.Thr232Pro)	MCOLN1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
208025	NM_020533.3(MCOLN1):c.1615del (p.Ala539fs)	MCOLN1	Pathogenic	criteria provided, multiple submitters, no conflicts
208028	NM_020533.3(MCOLN1):c.1210dup (p.Tyr404fs)	MCOLN1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 9 · Orphanet: 3 · 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
MCOLN1	Definitive	Autosomal recessive	mucolipidosis type IV	9

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
MCOLN1	Orphanet:578	Mucolipidosis type IV
ADAMTS10	Orphanet:3449	Weill-Marchesani syndrome
ARHGEF18	Orphanet:791	Retinitis pigmentosa

Cohort genes → proteins

4 cohort genes, 4 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	4

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
MCOLN1	HGNC:13356	ENSG00000090674	Q9GZU1	Mucolipin-1	gencc,clinvar
ADAMTS10	HGNC:13201	ENSG00000142303	Q9H324	A disintegrin and metalloproteinase with thrombospondin motifs 10	clinvar
ARHGEF18	HGNC:17090	ENSG00000104880	Q6ZSZ5	Rho guanine nucleotide exchange factor 18	clinvar
ADGRE1	HGNC:3336	ENSG00000174837	Q14246	Adhesion G protein-coupled receptor E1	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
MCOLN1	Mucolipin-1	Nonselective cation channel probably playing a role in the regulation of membrane trafficking events and of metal homeostasis.
ADAMTS10	A disintegrin and metalloproteinase with thrombospondin motifs 10	Metalloprotease that participate in microfibrils assembly.
ARHGEF18	Rho guanine nucleotide exchange factor 18	Acts as a guanine nucleotide exchange factor (GEF) for RhoA GTPases.
ADGRE1	Adhesion G protein-coupled receptor E1	Orphan receptor involved in cell adhesion and probably in cell-cell interactions specifically involving cells of the immune system.

Protein-family classification

Druggable: 2 · Difficult: 1 · Unknown: 1 · Druggable fraction: 0.5

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
Protease	1	9.2×	0.314
GPCR	1	6.0×	0.314
Transcription factor	1	2.1×	0.538
Other/Unknown	1	0.5×	0.962

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
MCOLN1	Other/Unknown	no		PKD1_2_channel, Mucolipin, ML1_ELD
ADAMTS10	Protease	yes		TSP1_rpt, Peptidase_M12B, Peptidase_M12B_N
ARHGEF18	Transcription factor	no		DH_dom, PH_domain, PH-like_dom_sf
ADGRE1	GPCR	yes		EGF-type_Asp/Asn_hydroxyl_site, GPS, EGF

Expression context

Cohort genes with no expression data: 0.

3 cohort genes 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)	4
unknown	0

Top tissues across cohort

Tissue	Cohort genes
right adrenal gland	1
right adrenal gland cortex	1
spleen	1
descending thoracic aorta	1
kidney epithelium	1
right coronary artery	1
ileal mucosa	1
pancreatic ductal cell	1
thymus	1
leukocyte	1
monocyte	1
mononuclear cell	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
MCOLN1	255	ubiquitous	marker	spleen, right adrenal gland cortex, right adrenal gland
ADAMTS10	254	ubiquitous	yes	descending thoracic aorta, right coronary artery, kidney epithelium
ARHGEF18	284	ubiquitous	marker	pancreatic ductal cell, thymus, ileal mucosa
ADGRE1	138	broad	marker	monocyte, mononuclear cell, leukocyte

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
MCOLN1	1,412
ADGRE1	1,148
ARHGEF18	880
ADAMTS10	710

Structural data

PDB: 1 · AlphaFold-only: 3 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
MCOLN1	Q9GZU1	25

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
ADGRE1	Q14246	76.75
ADAMTS10	Q9H324	73.88
ARHGEF18	Q6ZSZ5	62.10

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 33. Enrichment computed across 4 evidence-associated genes (4 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 4 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition)	1	167.9×	0.055	ARHGEF18
TRP channels	1	102.0×	0.055	MCOLN1
Transferrin endocytosis and recycling	1	92.1×	0.055	MCOLN1
Iron uptake and transport	1	86.5×	0.055	MCOLN1
Defective B3GALTL causes PpS	1	77.2×	0.055	ADAMTS10
O-glycosylation of TSR domain-containing proteins	1	75.1×	0.055	ADAMTS10
Cell death signalling via NRAGE, NRIF and NADE	1	54.9×	0.055	ARHGEF18
Diseases associated with O-glycosylation of proteins	1	53.9×	0.055	ADAMTS10
Signaling by TGF-beta Receptor Complex	1	50.1×	0.055	ARHGEF18
Class B/2 (Secretin family receptors)	1	47.6×	0.055	ADGRE1
p75 NTR receptor-mediated signalling	1	46.8×	0.055	ARHGEF18
NRAGE signals death through JNK	1	46.0×	0.055	ARHGEF18
Signaling by GPCR	2	20.0×	0.055	ARHGEF18, ADGRE1
O-linked glycosylation	1	36.1×	0.055	ADAMTS10
Death Receptor Signaling	1	34.8×	0.055	ARHGEF18
G alpha (12/13) signalling events	1	34.4×	0.055	ARHGEF18
Stimuli-sensing channels	1	34.0×	0.055	MCOLN1
Diseases of glycosylation	1	32.8×	0.055	ADAMTS10
Signaling by TGFB family members	1	28.8×	0.059	ARHGEF18
Ion channel transport	1	24.0×	0.068	MCOLN1
Diseases of metabolism	1	20.1×	0.075	ADAMTS10
RHOA GTPase cycle	1	18.7×	0.075	ARHGEF18
Signal Transduction	2	5.1×	0.075	ARHGEF18, ADGRE1
GPCR ligand binding	1	16.0×	0.082	ADGRE1
RAC1 GTPase cycle	1	15.3×	0.082	ARHGEF18
RHO GTPase cycle	1	15.0×	0.082	ARHGEF18
GPCR downstream signalling	1	10.9×	0.109	ARHGEF18
Signaling by Rho GTPases	1	8.6×	0.130	ARHGEF18
Signaling by Rho GTPases, Miro GTPases and RHOBTB3	1	8.4×	0.130	ARHGEF18
Transport of small molecules	1	6.3×	0.165	MCOLN1

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 4 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
calcium ion export	1	1053.2×	0.008	MCOLN1
positive regulation of lysosome organization	1	1053.2×	0.008	MCOLN1
adaptive immune response	2	42.1×	0.008	MCOLN1, ADGRE1
iron ion transmembrane transport	1	601.9×	0.009	MCOLN1
cellular response to pH	1	526.6×	0.009	MCOLN1
protein localization to cell-cell junction	1	468.1×	0.009	ARHGEF18
transferrin transport	1	383.0×	0.009	MCOLN1
phagosome maturation	1	300.9×	0.010	MCOLN1
monoatomic cation transport	1	191.5×	0.014	MCOLN1
negative regulation of stress fiber assembly	1	145.3×	0.017	ARHGEF18
regulation of Rho protein signal transduction	1	127.7×	0.017	ARHGEF18
intracellular zinc ion homeostasis	1	120.4×	0.017	MCOLN1
autophagosome maturation	1	87.8×	0.021	MCOLN1
release of sequestered calcium ion into cytosol	1	86.0×	0.021	MCOLN1
protein homotetramerization	1	59.3×	0.028	MCOLN1
calcium ion transmembrane transport	1	52.7×	0.029	MCOLN1
cellular response to calcium ion	1	50.1×	0.029	MCOLN1
small GTPase-mediated signal transduction	1	45.8×	0.030	ARHGEF18
regulation of cell shape	1	30.8×	0.040	ARHGEF18
extracellular matrix organization	1	30.5×	0.040	ADAMTS10
actin cytoskeleton organization	1	19.8×	0.059	ARHGEF18
cell surface receptor signaling pathway	1	16.0×	0.069	ADGRE1
cell adhesion	1	9.4×	0.110	ADGRE1
G protein-coupled receptor signaling pathway	1	9.1×	0.110	ADGRE1
proteolysis	1	8.6×	0.112	ADAMTS10

Therapeutics

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 4

Druggability breadth: 1 of 4 evidence-associated genes (25%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
MCOLN1	0	0
ADAMTS10	0	0
ARHGEF18	0	0
ADGRE1	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

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

Symbol	Assays	Type breakdown
MCOLN1	9	Binding:9

Pharmacogenomics

Cohort genes with a PharmGKB record: 4; with CPIC/DPWG dosing guidelines: 0.

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

Chemical tractability of cohort targets

0 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.

Druggability pyramid

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

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	0
B	Phased (≥1) drug, not yet approved	0
C	Druggable family + PDB, no drug	0
D	Druggable family + AlphaFold only, no drug	2	ADAMTS10, ADGRE1
E	Difficult family or no structure, no drug	2	MCOLN1, ARHGEF18

Undrugged target profiles

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

Symbol	ChEMBL assays	Drugged partners (top 3)
MCOLN1	9	—
ADAMTS10	0	—
ARHGEF18	0	—
ADGRE1	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 5.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	4
PHASE1	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT07398872	PHASE1	ENROLLING_BY_INVITATION	Safety and Efficacy of AAV9. hMCOLN1co For Patients With Mucolipidosis Type IV
NCT01793168	Not specified	RECRUITING	Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
NCT05782387	Not specified	ACTIVE_NOT_RECRUITING	Mucolipidosis Type IV Natural History Study
NCT00015782	Not specified	COMPLETED	The Natural History and Pathogenesis of Mucolipidosis Type IV
NCT01067742	Not specified	TERMINATED	The Natural History of Mucolipidosis Type IV