Mucopolysaccharidosis

Summary

Mucopolysaccharidosis (MONDO:0019249) is a disease (an umbrella term covering 8 Mondo subtypes) caused by ARSK (GenCC Strong), with 7 cohort genes and 33 clinical trials. The dominant Reactome pathway is HS-GAG degradation (4 cohort genes). Top therapeutic interventions include vestronidase alfa, idursulfase, and rituximab.

At a glance

• Prevalence: 1-9 / 1 000 000 (United States) [Orphanet-validated]
• Causal gene: ARSK (GenCC Strong)
• Umbrella term: 8 Mondo subtypes
• Cohort genes: 7
• ClinVar variants: 21
• Clinical trials: 33

Clinical features

Epidemiology

Prevalence records

22 prevalence record(s), Orphanet, top 20 (validated / broadest geography first):

Type	Class	Value	Geography	Validation
Prevalence at birth	1-9 / 100 000		Worldwide	Validated
Prevalence at birth	1-9 / 100 000		Europe	Validated
Point prevalence	1-9 / 1 000 000	0.267	United States	Validated
Point prevalence	1-9 / 100 000	1.04	Brazil	Validated
Prevalence at birth	1-9 / 100 000	4.5	Netherlands	Validated
Prevalence at birth	1-9 / 100 000	3.9	Australia	Validated
Prevalence at birth	1-9 / 100 000	4.8	Portugal	Validated
Prevalence at birth	1-9 / 100 000	3.53	Germany	Validated
Prevalence at birth	1-9 / 100 000	2.22	Sweden	Validated
Prevalence at birth	1-9 / 100 000	3.08	Norway	Validated
Prevalence at birth	1-9 / 100 000	1.77	Denmark	Validated
Prevalence at birth	1-9 / 100 000	1.81	Poland	Validated
Prevalence at birth	1-9 / 100 000	3.72	Czech Republic	Validated
Prevalence at birth	1-9 / 100 000	2.29	Tunisia	Validated
Prevalence at birth	1-9 / 100 000	2.04	Taiwan, Province of China	Validated
Prevalence at birth	1-9 / 100 000	4.05	Estonia	Validated
Prevalence at birth	1-9 / 100 000	1.53	Japan	Validated
Prevalence at birth	1-9 / 100 000	1.56	Switzerland	Validated
Prevalence at birth	1-9 / 100 000	1.25	Brazil	Validated
Prevalence at birth	1-5 / 10 000	16.9	Saudi Arabia	Validated

Identifiers

Disease identifiers

Field	Value
Canonical name	mucopolysaccharidosis
Mondo ID	MONDO:0019249
MeSH	D009083
OMIM	607014
Orphanet	79213
DOID	DOID:12798
ICD-11	1596128696
NCIT	C61259
SNOMED CT	11380006
UMLS	C0026703
MedGen	7733
GARD	0007065
MedDRA	10028093
NORD	1461
Is cancer (heuristic)	no

Also known as: MPS · Mucopolysaccharidoses · mucopolysaccharidoses · mucopolysaccharidosis

Data availability: 21 ClinVar variants · 1 GenCC gene-disease record · 2 cell lines.

Disease family

An umbrella term covering 8 Mondo subtypes.

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › inborn errors of metabolism › lysosomal storage disease › mucopolysaccharidosis

Related subtypes (10): lysosomal acid phosphatase deficiency, glycoprotein storage disease, pycnodysostosis, hereditary spastic paraplegia 48, late infantile neuronal ceroid lipofuscinosis, glycoproteinosis, disorder of sialic acid metabolism, lysosomal glycogen storage disease, lysosomal lipid storage disorder, inborn disorder of lysosomal amino acid transport

Subtypes (8): mucopolysaccharidosis type 1, mucopolysaccharidosis type 6, mucopolysaccharidosis type 7, mucopolysaccharidosis type 2, mucopolysaccharidosis type 9, mucopolysaccharidosis type 3, mucopolysaccharidosis type 4, mucopolysaccharidosis, type 10

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

21 retrieved; paginated sample, class counts are floors:

8 pathogenic, 6 pathogenic/likely pathogenic, 3 uncertain significance, 2 not provided, 1 conflicting classifications of pathogenicity, 1 likely pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
5107	NM_000199.5(SGSH):c.734G>A (p.Arg245His)	CARD14	Pathogenic	criteria provided, multiple submitters, no conflicts
252961	NM_152419.3(HGSNAT):c.518G>A (p.Gly173Asp)	HGSNAT	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1562	NM_000263.4(NAGLU):c.889C>T (p.Arg297Ter)	NAGLU	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1565	NM_000263.4(NAGLU):c.1927C>T (p.Arg643Cys)	NAGLU	Pathogenic	criteria provided, multiple submitters, no conflicts
1566	NM_000263.4(NAGLU):c.1562C>T (p.Pro521Leu)	NAGLU	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
522823	NM_000263.4(NAGLU):c.1834A>G (p.Ser612Gly)	NAGLU	Pathogenic	criteria provided, multiple submitters, no conflicts
632282	NM_000263.4(NAGLU):c.1900G>A (p.Glu634Lys)	NAGLU	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
830367	NM_000263.4(NAGLU):c.1489C>G (p.Leu497Val)	NAGLU	Pathogenic	criteria provided, single submitter
279891	NM_000199.5(SGSH):c.1139A>G (p.Gln380Arg)	SGSH	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
30459	NM_000199.5(SGSH):c.892T>C (p.Ser298Pro)	SGSH	Pathogenic	criteria provided, multiple submitters, no conflicts
5108	NM_000199.5(SGSH):c.220C>T (p.Arg74Cys)	SGSH	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
5111	NM_000199.5(SGSH):c.197C>G (p.Ser66Trp)	SGSH	Pathogenic	criteria provided, multiple submitters, no conflicts
518268	NM_000199.5(SGSH):c.1080del (p.Val361fs)	SGSH	Pathogenic	criteria provided, multiple submitters, no conflicts
11909	NM_000203.5(IDUA):c.208C>T (p.Gln70Ter)	SLC26A1	Pathogenic	reviewed by expert panel
553204	NM_000263.4(NAGLU):c.1000G>T (p.Val334Phe)	NAGLU	Likely pathogenic	criteria provided, single submitter
1237	NM_152419.3(HGSNAT):c.1030C>T (p.Arg344Cys)	HGSNAT	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
830366	NM_152419.3(HGSNAT):c.1616C>G (p.Ser539Cys)	HGSNAT	Uncertain significance	criteria provided, single submitter
648087	NM_000203.5(IDUA):c.932C>T (p.Pro311Leu)	IDUA	Uncertain significance	criteria provided, multiple submitters, no conflicts
905910	NM_000203.5(IDUA):c.806C>G (p.Ser269Cys)	IDUA	Uncertain significance	criteria provided, multiple submitters, no conflicts
830365	NM_152419.3(HGSNAT):c.784G>A (p.Gly262Arg)	HGSNAT	not provided	no classification provided
830368	NM_000263.4(NAGLU):c.529C>T (p.Arg177Trp)	NAGLU	not provided	no classification provided

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 2 · Orphanet: 10 · 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
ARSK	Strong	Autosomal recessive	mucopolysaccharidosis, type 10	2

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
ARSK	Orphanet:662216	Mucopolysaccharidosis type 10
SGSH	Orphanet:79269	Sanfilippo syndrome type A
CARD14	Orphanet:2897	Pityriasis rubra pilaris
HGSNAT	Orphanet:791	Retinitis pigmentosa
HGSNAT	Orphanet:79271	Sanfilippo syndrome type C
IDUA	Orphanet:93473	Hurler syndrome
IDUA	Orphanet:93474	Scheie syndrome
IDUA	Orphanet:93476	Hurler-Scheie syndrome
NAGLU	Orphanet:447964	Autosomal dominant Charcot-Marie-Tooth disease type 2V
NAGLU	Orphanet:79270	Sanfilippo syndrome type B

Cohort genes → proteins

7 cohort genes, 7 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	7

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
ARSK	HGNC:25239	ENSG00000164291	Q6UWY0	Arylsulfatase K	gencc
SGSH	HGNC:10818	ENSG00000181523	P51688	N-sulphoglucosamine sulphohydrolase	clinvar
SLC26A1	HGNC:10993	ENSG00000145217	Q9H2B4	Sulfate anion transporter 1	clinvar
CARD14	HGNC:16446	ENSG00000141527	Q9BXL6	Caspase recruitment domain-containing protein 14	clinvar
HGSNAT	HGNC:26527	ENSG00000165102	Q68CP4	Heparan-alpha-glucosaminide N-acetyltransferase	clinvar
IDUA	HGNC:5391	ENSG00000127415	P35475	Alpha-L-iduronidase	clinvar
NAGLU	HGNC:7632	ENSG00000108784	P54802	Alpha-N-acetylglucosaminidase	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
ARSK	Arylsulfatase K	Catalyzes the hydrolysis of pseudosubstrates such as p-nitrocatechol sulfate and p-nitrophenyl sulfate.
SGSH	N-sulphoglucosamine sulphohydrolase	Catalyzes a step in lysosomal heparan sulfate degradation.
SLC26A1	Sulfate anion transporter 1	Sodium-independent sulfate anion transporter.
CARD14	Caspase recruitment domain-containing protein 14	Acts as a scaffolding protein that can activate the inflammatory transcription factor NF-kappa-B and p38/JNK MAP kinase signaling pathways.
HGSNAT	Heparan-alpha-glucosaminide N-acetyltransferase	Lysosomal acetyltransferase that acetylates the non-reducing terminal alpha-glucosamine residue of intralysosomal heparin or heparan sulfate, converting it into a substrate for luminal alpha-N-acetyl glucosaminidase.
NAGLU	Alpha-N-acetylglucosaminidase	Involved in the degradation of heparan sulfate.

Protein-family classification

Druggable: 6 · Difficult: 1 · Unknown: 0 · Druggable fraction: 0.86

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
Phosphatase	2	24.0×	0.014
Transporter	1	11.1×	0.184
Enzyme (other)	2	3.4×	0.184
Antibody/Immunoglobulin	1	4.2×	0.271
Scaffold/PPI	1	2.5×	0.341

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
ARSK	Phosphatase	yes	3.1.6.1	Sulfatase_N, Alkaline_phosphatase_core_sf, ARSK
SGSH	Phosphatase	yes	3.10.1.1	Sulfatase_N, Alkaline_phosphatase_core_sf, Sulfatase_CS
SLC26A1	Transporter	yes		SLC26A/SulP_fam, STAS_dom, SLC26A/SulP_dom
CARD14	Scaffold/PPI	no		CARD, PDZ, Guanylate_kin-like_dom
HGSNAT	Enzyme (other)	yes	2.3.1.78	HGSNAT_cat
IDUA	Antibody/Immunoglobulin	yes	3.2.1.76	Glyco_hydro_39, Ig-like_fold, GH_hydrolase_sf
NAGLU	Enzyme (other)	yes	3.2.1.50	NAGLU, GH_hydrolase_sf, NAGLU_N

Expression context

Cohort genes with no expression data: 0.

5 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)	7
unknown	0

Top tissues across cohort

Tissue	Cohort genes
left adrenal gland cortex	2
mucosa of stomach	2
buccal mucosa cell	1
kidney epithelium	1
sperm	1
adrenal cortex	1
left adrenal gland	1
right adrenal gland cortex	1
right lobe of liver	1
lower esophagus mucosa	1
skin of abdomen	1
skin of leg	1
cervix squamous epithelium	1
right uterine tube	1
cerebellar cortex	1
cerebellar hemisphere	1
right hemisphere of cerebellum	1
body of pancreas	1
stromal cell of endometrium	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
ARSK	237	ubiquitous	marker	kidney epithelium, buccal mucosa cell, sperm
SGSH	272	ubiquitous	marker	left adrenal gland, left adrenal gland cortex, adrenal cortex
SLC26A1	156	tissue_specific	yes	right adrenal gland cortex, left adrenal gland cortex, right lobe of liver
CARD14	179	tissue_specific	yes	lower esophagus mucosa, skin of leg, skin of abdomen
HGSNAT	287	ubiquitous	marker	mucosa of stomach, right uterine tube, cervix squamous epithelium
IDUA	209	ubiquitous	marker	right hemisphere of cerebellum, cerebellar hemisphere, cerebellar cortex
NAGLU	268	ubiquitous	marker	stromal cell of endometrium, body of pancreas, mucosa of stomach

Protein interactions among cohort

Intra-cohort edges: 6.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
IDUA	1,927
CARD14	1,902
SLC26A1	1,454
NAGLU	1,200
SGSH	1,151
ARSK	946
HGSNAT	863

Intra-cohort edges

A	B	Sources
HGSNAT	IDUA	string_interaction
HGSNAT	NAGLU	string_interaction
HGSNAT	SGSH	string_interaction
IDUA	NAGLU	string_interaction
IDUA	SGSH	string_interaction
NAGLU	SGSH	string_interaction

Structural data

PDB: 4 · AlphaFold-only: 3 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
HGSNAT	Q68CP4	12
IDUA	P35475	11
SGSH	P51688	2
NAGLU	P54802	1

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
ARSK	Q6UWY0	91.50
SLC26A1	Q9H2B4	83.13
CARD14	Q9BXL6	75.89

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 32. Enrichment computed across 7 evidence-associated genes (6 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 6 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
HS-GAG degradation	4	331.0×	6e-09	SGSH, HGSNAT, IDUA, NAGLU
Glycosaminoglycan metabolism	3	109.8×	3e-05	SGSH, SLC26A1, NAGLU
Mucopolysaccharidoses	2	634.4×	4e-05	SGSH, NAGLU
Metabolism of carbohydrates and carbohydrate derivatives	3	60.1×	9e-05	SGSH, SLC26A1, NAGLU
Diseases of carbohydrate metabolism	2	271.9×	1e-04	SGSH, NAGLU
Heparan sulfate/heparin (HS-GAG) metabolism	2	181.3×	3e-04	SGSH, NAGLU
MPS IIIB - Sanfilippo syndrome B	1	1903.3×	0.002	NAGLU
MPS IIIC - Sanfilippo syndrome C	1	1903.3×	0.002	HGSNAT
MPS I - Hurler syndrome (HS-GAG degradation)	1	1903.3×	0.002	IDUA
MPS IIIA - Sanfilippo syndrome A	1	1903.3×	0.002	SGSH
MPS I - Hurler syndrome (CS/DS degradation)	1	1903.3×	0.002	IDUA
Metabolism	4	7.7×	0.002	SGSH, SLC26A1, ARSK, NAGLU
Diseases of metabolism	2	26.8×	0.005	SGSH, NAGLU
Transport and metabolism of PAPS	1	271.9×	0.008	SLC26A1
Inorganic anion exchange by SLC26 transporters	1	211.5×	0.010	SLC26A1
The activation of arylsulfatases	1	146.4×	0.014	ARSK
CS/DS degradation	1	90.6×	0.020	IDUA
Cytosolic sulfonation of small molecules	1	86.5×	0.020	SLC26A1
Gamma carboxylation, hypusinylation, hydroxylation, and arylsulfatase activation	1	70.5×	0.024	ARSK
Glycosphingolipid metabolism	1	50.1×	0.031	ARSK
Glycosphingolipid catabolism	1	48.8×	0.031	ARSK
Phase II - Conjugation of compounds	1	46.4×	0.031	SLC26A1
Sphingolipid metabolism	1	28.0×	0.049	ARSK
Biological oxidations	1	21.6×	0.058	SLC26A1
R-HSA-425393	1	21.6×	0.058	SLC26A1
Disease	2	4.4×	0.088	SGSH, NAGLU
SLC-mediated transmembrane transport	1	9.9×	0.115	SLC26A1
Metabolism of lipids	1	5.3×	0.201	ARSK
Transport of small molecules	1	4.2×	0.238	SLC26A1
Neutrophil degranulation	1	3.9×	0.249	HGSNAT

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 6 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
heparan sulfate proteoglycan catabolic process	4	1248.3×	4e-11	SGSH, HGSNAT, IDUA, NAGLU
glycosaminoglycan catabolic process	2	802.5×	7e-05	SGSH, IDUA
motor behavior	2	187.2×	0.001	SGSH, NAGLU
determination of adult lifespan	2	144.0×	0.001	SGSH, NAGLU
disaccharide metabolic process	1	2808.7×	0.003	IDUA
heparin proteoglycan catabolic process	1	2808.7×	0.003	IDUA
response to disaccharide	1	2808.7×	0.003	NAGLU
rod bipolar cell differentiation	1	1404.3×	0.006	NAGLU
ganglioside metabolic process	1	702.2×	0.008	NAGLU
left ventricular cardiac muscle tissue morphogenesis	1	702.2×	0.008	NAGLU
dermatan sulfate proteoglycan catabolic process	1	702.2×	0.008	IDUA
cone retinal bipolar cell differentiation	1	702.2×	0.008	NAGLU
cytoplasm organization	1	468.1×	0.010	NAGLU
heparin proteoglycan metabolic process	1	468.1×	0.010	NAGLU
oxalate transport	1	401.2×	0.010	SLC26A1
glycosaminoglycan metabolic process	1	401.2×	0.010	NAGLU
inner ear receptor cell development	1	401.2×	0.010	NAGLU
mitral valve morphogenesis	1	280.9×	0.012	NAGLU
activation of NF-kappaB-inducing kinase activity	1	280.9×	0.012	CARD14
retinal rod cell development	1	280.9×	0.012	NAGLU
microglia differentiation	1	255.3×	0.012	NAGLU
cerebellar Purkinje cell layer development	1	255.3×	0.012	NAGLU
endothelium development	1	216.1×	0.013	NAGLU
amyloid precursor protein metabolic process	1	216.1×	0.013	NAGLU
sulfate transmembrane transport	1	200.6×	0.013	SLC26A1
collagen metabolic process	1	175.5×	0.013	NAGLU
locomotor rhythm	1	175.5×	0.013	NAGLU
superoxide metabolic process	1	165.2×	0.013	NAGLU
astrocyte activation	1	165.2×	0.013	NAGLU
obsolete vesicle tethering	1	165.2×	0.013	NAGLU

Therapeutics

Drugs indicated for this disease

3 approved, 1 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

Drug	Development status
Elosulfase Alfa	Approved (phase 4)
Galsulfase	Approved (phase 4)
Laronidase	Approved (phase 4)
Vestronidase Alfa	Phase 3 (in late-stage trials)

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

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 7

Druggability breadth: 2 of 7 evidence-associated genes (29%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
ARSK	0	0
SGSH	0	0
SLC26A1	0	0
CARD14	0	0
HGSNAT	0	0
IDUA	0	0
NAGLU	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 5.

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

Symbol	Assays	Type breakdown
IDUA	15	Binding:15
NAGLU	4	Binding:4

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
ARSK	3.1.6.1, 3.1.6.18	arylsulfatase (type I), glucuronate-2-sulfatase
SGSH	3.10.1.1	N-sulfoglucosamine sulfohydrolase
HGSNAT	2.3.1.78	heparan-alpha-glucosaminide N-acetyltransferase
IDUA	3.2.1.76	L-iduronidase
NAGLU	3.2.1.50	alpha-N-acetylglucosaminidase

Pharmacogenomics

Cohort genes with a PharmGKB record: 7; 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	4	SGSH, HGSNAT, IDUA, NAGLU
D	Druggable family + AlphaFold only, no drug	2	ARSK, SLC26A1
E	Difficult family or no structure, no drug	1	CARD14

Undrugged target profiles

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

Symbol	ChEMBL assays	Drugged partners (top 3)
ARSK	0	—
SGSH	0	—
SLC26A1	0	—
CARD14	0	—
HGSNAT	0	—
IDUA	15	—
NAGLU	4	—

Clinical trials & evidence

Clinical trials

Clinical trials: 33.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	21
PHASE2	4
PHASE3	3
PHASE1/PHASE2	3
PHASE4	1
PHASE2/PHASE3	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT05494593	PHASE4	WITHDRAWN	A Study of ELAPRASE in Treatment-naïve Participants With Hunter Syndrome (Mucopolysaccharidosis [MPS] II)
NCT00654433	PHASE3	TERMINATED	ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metabolic Diseases
NCT01238328	PHASE2/PHASE3	UNKNOWN	Hematopoietic Stem Cell Transplantation for Mucopolysaccharidosis
NCT02230566	PHASE3	COMPLETED	A Phase 3 Study of UX003 Recombinant Human Betaglucuronidase (rhGUS) Enzyme Replacement Therapy in Patients With Mucopolysaccharidosis Type 7 (MPS 7)
NCT02432144	PHASE3	COMPLETED	A Study of UX003 Recombinant Human Beta-Glucuronidase (rhGUS) Enzyme Replacement Therapy in Subjects With Mucopolysaccharidosis Type 7, Sly Syndrome (MPS 7)
NCT01043640	PHASE2	COMPLETED	Allogeneic Bone Marrow Transplant for Inherited Metabolic Disorders
NCT01155778	PHASE1/PHASE2	COMPLETED	Safety, Tolerability, Ascending Dose and Dose Frequency Study of rhHNS Via an IDDD in MPS IIIA Patients
NCT01474343	PHASE1/PHASE2	COMPLETED	Intracerebral Gene Therapy for Sanfilippo Type A Syndrome
NCT02053064	PHASE1/PHASE2	COMPLETED	Long-term Follow-up of Sanfilippo Type A Patients Treated by Intracerebral SAF-301 Gene Therapy
NCT02350816	PHASE2	TERMINATED	An Extension Study to Determine Safety and Efficacy for Pediatric Patients With MPS Type IIIA Disease Who Participated in Study HGT-SAN-093.
NCT02418455	PHASE2	COMPLETED	Study of UX003 Recombinant Human Beta-Glucuronidase (rhGUS) Enzyme Replacement Treatment in Mucopolysaccharidosis Type 7, Sly Syndrome (MPS 7) Patients Less Than 5 Years of Age
NCT03632213	PHASE2	UNKNOWN	Evaluation of Losartan on Cardiovascular Disease in Patients With Mucopolysaccharidoses IV A and VI
NCT03047369	Not specified	RECRUITING	The Myelin Disorders Biorepository Project
NCT03655223	Not specified	ENROLLING_BY_INVITATION	Early Check: Expanded Screening in Newborns
NCT05063435	Not specified	ACTIVE_NOT_RECRUITING	Cardiovascular Structure and Function in the Mucopolysaccharidoses
NCT07136896	Not specified	NOT_YET_RECRUITING	Nutritional Assessment in Patient of Mucopolysaccharide
NCT07173010	Not specified	NOT_YET_RECRUITING	Pediatric Arthropathy Beyond Inflammation: Clinical Spectrum and Diagnostic Approach at Assiut University Children Hospital
NCT07449143	Not specified	NOT_YET_RECRUITING	Physical Activity Intervention for MPS
NCT01521429	Not specified	COMPLETED	Longitudinal Study of Bone Disease in Children with Mucopolysaccharidoses (MPS) I, II, and VI
NCT01586871	Not specified	COMPLETED	Carotid Structure and Function in MPS Syndromes: A Multicenter Study of the Lysosomal Disease Network
NCT01675674	Not specified	TERMINATED	Study to Detect Unrecognized Mucopolysaccharidosis in Children Visiting Rheumatology, Hand or Skeletal Dysplasia Clinics
NCT01695161	Not specified	UNKNOWN	Non-invasive Assessment of Intraocular Pressure in MPS by Use of the Ocular Response Analyzer.
NCT01822184	Not specified	COMPLETED	Observational Study to Evaluate Neurodevelopmental Status in Pediatric Patients With Hunter Syndrome (MPS II)
NCT02095015	Not specified	TERMINATED	Mucopolysaccharidosis (MPS) I, II, and VI Screening in a High-Risk Population With Previous Surgical Repair or Presence of Inguinal and/or Umbilical Hernia in Combination With Pediatric ENT Surgery (The HATT Project)
NCT02583152	Not specified	UNKNOWN	New Imaging Technology to Assess Effect of Enzyme Replacment Therapy on Eye Disease Progession in Mucopolysacchardiosis
NCT02699190	Not specified	COMPLETED	LeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for Leukodystrophies
NCT03017677	Not specified	UNKNOWN	A Cross-specialty Collaboration Platform for Mucopolysaccharidosis Confirmative Diagnosis
NCT04112602	Not specified	COMPLETED	Respiratory Cathepsins, Proteases Inhibitors and Glycosaminoglycans (GAG) in Mucopolysaccharidosis
NCT04491747	Not specified	COMPLETED	Assessment of Factors That Affected Respiratory Parameters in Mucopolysaccharidoses Patients
NCT04637646	Not specified	UNKNOWN	Evaluation of Cardiac Affections in Patients With Mucopolysaccharidosis (MPS) in Assuit University Children Hospital (AUCH)
NCT05006222	Not specified	COMPLETED	The Effect of Enzyme Replacement Therapy in Mucopolysaccharidosis
NCT05155488	Not specified	COMPLETED	A Study to Improve the Awareness of Mucopolysaccharidosis Type II in Brazil
NCT05354219	Not specified	UNKNOWN	Validation and Reliability of Iris Cameras in Mucopolysaccharidoses

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
VESTRONIDASE ALFA	4	3
IDURSULFASE	4	1
RITUXIMAB	4	1
N-SULFOGLUCOSAMINE SULFOHYDROLASE RECOMBINANT	2	1