Mucopolysaccharidosis type 1

Summary

Mucopolysaccharidosis type 1 (MONDO:0001586) is a disease caused by IDUA (GenCC Definitive), with 2 cohort genes and 33 clinical trials. Top therapeutic interventions include laronidase, cyclophosphamide anhydrous, and terfenadine.

At a glance

• Prevalence: 1-9 / 1 000 000 (Europe) [Orphanet-validated]
• Causal gene: IDUA (GenCC Definitive)
• Cohort genes: 2
• ClinVar variants: 1,594
• Phenotypes (HPO): 57
• Clinical trials: 33

Clinical features

Epidemiology

Prevalence records

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

Type	Class	Value	Geography	Validation
Prevalence at birth	1-9 / 1 000 000	0.82	Worldwide	Validated
Point prevalence	1-9 / 1 000 000	0.5	Europe	Validated
Prevalence at birth	1-9 / 100 000	1	Europe	Validated
Point prevalence	1-9 / 100 000	8.7	Sweden	Validated
Point prevalence	1-5 / 10 000	31	Norway	Validated
Point prevalence	1-9 / 100 000	7.4	Denmark	Validated
Prevalence at birth	1-9 / 1 000 000	0.69	Germany	Validated
Prevalence at birth	1-9 / 100 000	1.33	Portugal	Validated
Prevalence at birth	1-9 / 100 000	1.19	Netherlands	Validated
Prevalence at birth	1-9 / 1 000 000	0.67	Sweden	Validated
Prevalence at birth	1-9 / 100 000	1.85	Norway	Validated
Prevalence at birth	1-9 / 1 000 000	0.54	Denmark	Validated
Prevalence at birth	1-9 / 100 000	3.8	Ireland	Validated
Prevalence at birth	1-9 / 100 000	1.07	United Kingdom	Validated
Prevalence at birth	1-9 / 1 000 000	0.63	Tunisia	Validated
Prevalence at birth	1-9 / 1 000 000	0.11	Taiwan, Province of China	Validated
Prevalence at birth	1-9 / 1 000 000	0.58	Canada	Validated
Prevalence at birth	1-9 / 100 000	1.14	Australia	Validated
Prevalence at birth	1-9 / 1 000 000	0.72	Czech Republic	Validated
Prevalence at birth	1-9 / 1 000 000	0.22	Poland	Validated

Signs & symptoms

Clinical features (HPO)

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

HPO ID	Term	Frequency
HP:0000023	Inguinal hernia	Very frequent (80-99%)
HP:0000246	Sinusitis	Very frequent (80-99%)
HP:0000280	Coarse facial features	Very frequent (80-99%)
HP:0000389	Chronic otitis media	Very frequent (80-99%)
HP:0000944	Abnormal metaphysis morphology	Very frequent (80-99%)
HP:0001171	Split hand	Very frequent (80-99%)
HP:0001387	Joint stiffness	Very frequent (80-99%)
HP:0001608	Abnormality of the voice	Very frequent (80-99%)
HP:0001744	Splenomegaly	Very frequent (80-99%)
HP:0002230	Generalized hirsutism	Very frequent (80-99%)
HP:0002650	Scoliosis	Very frequent (80-99%)
HP:0003312	Abnormal form of the vertebral bodies	Very frequent (80-99%)
HP:0004322	Short stature	Very frequent (80-99%)
HP:0005930	Abnormality of epiphysis morphology	Very frequent (80-99%)
HP:0007957	Corneal opacity	Very frequent (80-99%)
HP:0008155	Mucopolysacchariduria	Very frequent (80-99%)
HP:0100790	Hernia	Very frequent (80-99%)
HP:0000179	Thick lower lip vermilion	Frequent (30-79%)
HP:0000212	Gingival overgrowth	Frequent (30-79%)
HP:0000232	Everted lower lip vermilion	Frequent (30-79%)
HP:0000256	Macrocephaly	Frequent (30-79%)
HP:0000268	Dolichocephaly	Frequent (30-79%)
HP:0000271	Abnormality of the face	Frequent (30-79%)
HP:0000293	Full cheeks	Frequent (30-79%)
HP:0000294	Low anterior hairline	Frequent (30-79%)
HP:0000365	Hearing impairment	Frequent (30-79%)
HP:0000407	Sensorineural hearing impairment	Frequent (30-79%)
HP:0000488	Retinopathy	Frequent (30-79%)
HP:0000501	Glaucoma	Frequent (30-79%)
HP:0000687	Widely spaced teeth	Frequent (30-79%)
HP:0000691	Microdontia	Frequent (30-79%)
HP:0001249	Intellectual disability	Frequent (30-79%)
HP:0002024	Malabsorption	Frequent (30-79%)
HP:0002104	Apnea	Frequent (30-79%)
HP:0002205	Recurrent respiratory infections	Frequent (30-79%)
HP:0002376	Developmental regression	Frequent (30-79%)
HP:0002829	Arthralgia	Frequent (30-79%)
HP:0003272	Abnormality of the hip bone	Frequent (30-79%)
HP:0003401	Paresthesia	Frequent (30-79%)
HP:0005105	Abnormal nasal morphology	Frequent (30-79%)
HP:0005280	Depressed nasal bridge	Frequent (30-79%)
HP:0009928	Thick nasal alae	Frequent (30-79%)
HP:0012735	Cough	Frequent (30-79%)
HP:0100625	Enlarged thorax	Frequent (30-79%)
HP:0100765	Abnormality of the tonsils	Frequent (30-79%)
HP:0000238	Hydrocephalus	Occasional (5-29%)
HP:0000505	Visual impairment	Occasional (5-29%)
HP:0000648	Optic atrophy	Occasional (5-29%)
HP:0001373	Joint dislocation	Occasional (5-29%)
HP:0001635	Congestive heart failure	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	mucopolysaccharidosis type 1
Mondo ID	MONDO:0001586
Orphanet	579
DOID	DOID:12802
ICD-11	1539226250
NCIT	C85053
SNOMED CT	75610003
UMLS	C0023786
MedGen	44171
GARD	0010335
MedDRA	10056886
NORD	1462
Is cancer (heuristic)	no

Also known as: Alpha-L-iduronidase deficiency · attenuated MPS I (subtype, includes Hurler-Scheie and Scheie syndrome) · Hurler syndrome · Hurler syndrome (subtype) · Hurler-Scheie syndrome (subtype) · IDUA deficiency · lipochondrodystrophy · MPS 1 · MPS I · MPS1 · MPSI · mucopolysaccharidosis type 1 · Mucopolysaccharidosis Type I · mucopolysaccharidosis type I · Scheie syndrome (subtype) formerly known as Mucopoly-saccharidosis type V) · severe MPS I (subtype, also known as Hurler syndrome)

Data availability: 1,594 ClinVar variants · 186 ClinGen variant curations · 3 GenCC gene-disease records · 19 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 › mucopolysaccharidosis type 1

Related subtypes (119): ptosis, eye accommodation disease, corneal disorder, asthenopia, lens disorder, keratomalacia, scleral disorder, ocular siderosis, coloboma, luxation of globe, 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, 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

Subtypes (3): Hurler syndrome, Hurler-Scheie syndrome, Scheie syndrome

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:

367 likely benign, 101 uncertain significance, 53 pathogenic, 33 likely pathogenic, 22 conflicting classifications of pathogenicity, 18 pathogenic/likely pathogenic, 3 benign, 2 benign/likely benign, 1 benign/likely benign; other

ClinVar	Variant (HGVS)	Gene	Classification	Review
1032924	NM_000203.5(IDUA):c.1681C>T (p.Gln561Ter)	IDUA	Pathogenic	criteria provided, single submitter
1038439	NM_000203.5(IDUA):c.1862G>C (p.Arg621Pro)	IDUA	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1066233	NM_000203.5(IDUA):c.1525-11_1536del	IDUA	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1066552	NM_000203.5(IDUA):c.299_299+1delinsAT	IDUA	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1067173	NM_000203.5(IDUA):c.1858G>T (p.Val620Phe)	IDUA	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1068741	NM_000203.5(IDUA):c.1799C>A (p.Ser600Ter)	IDUA	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1068958	NM_000203.5(IDUA):c.853del (p.Gln285fs)	IDUA	Pathogenic	criteria provided, single submitter
1069822	NM_000203.5(IDUA):c.585dup (p.Gln196fs)	IDUA	Pathogenic	criteria provided, single submitter
1070696	NM_000203.5(IDUA):c.910del (p.Val304fs)	IDUA	Pathogenic	criteria provided, single submitter
1070716	NC_000004.11:g.(?996510)(998355_?)del	IDUA	Pathogenic	criteria provided, single submitter
1070926	NM_000203.5(IDUA):c.209del (p.Gln70fs)	IDUA	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1072608	NM_000203.5(IDUA):c.905del (p.Pro302fs)	IDUA	Pathogenic	criteria provided, single submitter
1072941	NM_000203.5(IDUA):c.87del (p.His30fs)	IDUA	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1073056	NM_000203.5(IDUA):c.606C>G (p.Tyr202Ter)	IDUA	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1075107	NM_000203.5(IDUA):c.1108C>T (p.Gln370Ter)	IDUA	Pathogenic	criteria provided, single submitter
1076379	NM_000203.5(IDUA):c.882dup (p.Ile295fs)	IDUA	Pathogenic	reviewed by expert panel
1184991	NM_000203.5(IDUA):c.911del (p.Val304fs)	IDUA	Pathogenic	reviewed by expert panel
11908	NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter)	IDUA	Pathogenic	reviewed by expert panel
11910	NM_000203.5(IDUA):c.1598C>G (p.Pro533Arg)	IDUA	Pathogenic	reviewed by expert panel
11914	NM_000203.5(IDUA):c.192C>A (p.Tyr64Ter)	IDUA	Pathogenic	criteria provided, multiple submitters, no conflicts
11917	NM_000203.5(IDUA):c.1861C>T (p.Arg621Ter)	IDUA	Pathogenic	reviewed by expert panel
11919	NM_000203.5(IDUA):c.1469T>C (p.Leu490Pro)	IDUA	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
11921	NM_000203.5(IDUA):c.613_617dup (p.Glu207fs)	IDUA	Pathogenic	reviewed by expert panel
11922	NM_000203.5(IDUA):c.266G>A (p.Arg89Gln)	IDUA	Pathogenic	reviewed by expert panel
11924	NM_000203.5(IDUA):c.1855C>G (p.Arg619Gly)	IDUA	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
11925	NM_000203.5(IDUA):c.1091C>T (p.Thr364Met)	IDUA	Pathogenic	reviewed by expert panel
11927	NM_000203.5(IDUA):c.1037T>G (p.Leu346Arg)	IDUA	Pathogenic	criteria provided, multiple submitters, no conflicts
1204494	NM_000203.5(IDUA):c.1190-1G>A	IDUA	Pathogenic	reviewed by expert panel
1321357	NM_000203.5(IDUA):c.540G>A (p.Trp180Ter)	IDUA	Pathogenic	reviewed by expert panel
1323093	NM_000203.5(IDUA):c.299+1G>C	IDUA	Pathogenic	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 11 · 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
IDUA	Definitive	Autosomal recessive	mucopolysaccharidosis type 1	11

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
IDUA	Orphanet:93473	Hurler syndrome
IDUA	Orphanet:93474	Scheie syndrome
IDUA	Orphanet:93476	Hurler-Scheie syndrome

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
IDUA	HGNC:5391	ENSG00000127415	P35475	Alpha-L-iduronidase	gencc,clinvar
SLC26A1	HGNC:10993	ENSG00000145217	Q9H2B4	Sulfate anion transporter 1	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
SLC26A1	Sulfate anion transporter 1	Sodium-independent sulfate anion transporter.

Protein-family classification

Druggable: 2 · Difficult: 0 · Unknown: 0 · Druggable fraction: 1.0

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
Transporter	1	38.9×	0.051
Antibody/Immunoglobulin	1	14.6×	0.067

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
IDUA	Antibody/Immunoglobulin	yes	3.2.1.76	Glyco_hydro_39, Ig-like_fold, GH_hydrolase_sf
SLC26A1	Transporter	yes		SLC26A/SulP_fam, STAS_dom, SLC26A/SulP_dom

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
cerebellar cortex	1
cerebellar hemisphere	1
right hemisphere of cerebellum	1
left adrenal gland cortex	1
right adrenal gland cortex	1
right lobe of liver	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
IDUA	209	ubiquitous	marker	right hemisphere of cerebellum, cerebellar hemisphere, cerebellar cortex
SLC26A1	156	tissue_specific	yes	right adrenal gland cortex, left adrenal gland cortex, right lobe of liver

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
IDUA	1,927
SLC26A1	1,454

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
IDUA	P35475	11

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
SLC26A1	Q9H2B4	83.13

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 15. Enrichment computed across 2 evidence-associated genes (2 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 2 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
MPS I - Hurler syndrome (HS-GAG degradation)	1	5710.0×	0.001	IDUA
MPS I - Hurler syndrome (CS/DS degradation)	1	5710.0×	0.001	IDUA
Transport and metabolism of PAPS	1	815.7×	0.006	SLC26A1
Inorganic anion exchange by SLC26 transporters	1	634.4×	0.006	SLC26A1
CS/DS degradation	1	271.9×	0.009	IDUA
Cytosolic sulfonation of small molecules	1	259.6×	0.009	SLC26A1
HS-GAG degradation	1	248.3×	0.009	IDUA
Phase II - Conjugation of compounds	1	139.3×	0.013	SLC26A1
Glycosaminoglycan metabolism	1	109.8×	0.015	SLC26A1
Biological oxidations	1	64.9×	0.021	SLC26A1
R-HSA-425393	1	64.9×	0.021	SLC26A1
Metabolism of carbohydrates and carbohydrate derivatives	1	60.1×	0.021	SLC26A1
SLC-mediated transmembrane transport	1	29.6×	0.039	SLC26A1
Transport of small molecules	1	12.6×	0.083	SLC26A1
Metabolism	1	5.8×	0.165	SLC26A1

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 2 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
disaccharide metabolic process	1	8426.0×	5e-04	IDUA
heparin proteoglycan catabolic process	1	8426.0×	5e-04	IDUA
dermatan sulfate proteoglycan catabolic process	1	2106.5×	0.001	IDUA
glycosaminoglycan catabolic process	1	1203.7×	0.001	IDUA
oxalate transport	1	1203.7×	0.001	SLC26A1
heparan sulfate proteoglycan catabolic process	1	936.2×	0.002	IDUA
sulfate transmembrane transport	1	601.9×	0.002	SLC26A1
chloride transport	1	227.7×	0.005	SLC26A1
chloride transmembrane transport	1	118.7×	0.008	SLC26A1

Therapeutics

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 2

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

Top cohort targets by molecule count

Symbol	Molecules	Max phase
IDUA	0	0
SLC26A1	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 1.

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

Symbol	Assays	Type breakdown
IDUA	15	Binding:15

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
IDUA	3.2.1.76	L-iduronidase

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

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	1	IDUA
D	Druggable family + AlphaFold only, no drug	1	SLC26A1
E	Difficult family or no structure, no drug	0

Undrugged target profiles

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

Symbol	ChEMBL assays	Drugged partners (top 3)
IDUA	15	—
SLC26A1	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 33.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	16
PHASE1/PHASE2	6
PHASE1	5
PHASE2	4
PHASE3	2

Top trials by phase / activity

NCT	Phase	Status	Title
NCT00258011	PHASE3	COMPLETED	Study of Aldurazyme® Replacement Therapy in Patients With Mucopolysaccharidosis I (MPS I) Disease
NCT06406153	PHASE3	COMPLETED	Efficacy and Safety of YW17 (Laronidase-CinnaGen) Compared to Aldurazyme® in MPS I Patients
NCT02171104	PHASE2	ACTIVE_NOT_RECRUITING	MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis
NCT00146757	PHASE2	COMPLETED	A Study Evaluating the Safety and Pharmacokinetics of Aldurazyme® (Laronidase) in MPS I Patients Less Than 5 Years Old
NCT00176891	PHASE2	COMPLETED	Stem Cell Transplant w/Laronidase for Hurler
NCT01043640	PHASE2	COMPLETED	Allogeneic Bone Marrow Transplant for Inherited Metabolic Disorders
NCT01372228	PHASE1/PHASE2	TERMINATED	Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders
NCT02437253	PHASE1/PHASE2	COMPLETED	Effects of Adalimumab in Mucopolysaccharidosis Types I, II and VI
NCT02702115	PHASE1/PHASE2	TERMINATED	Ascending Dose Study of Genome Editing by the Zinc Finger Nuclease (ZFN) Therapeutic SB-318 in Subjects With MPS I
NCT03513328	PHASE1/PHASE2	COMPLETED	Conditioning Regimen for Allogeneic Hematopoietic Stem-Cell Transplantation
NCT03580083	PHASE1/PHASE2	SUSPENDED	RGX-111 Gene Therapy in Patients With MPS I
NCT05665036	PHASE1/PHASE2	WITHDRAWN	Safety and Efficacy of Encapsulated Allogeneic MPS-1 Therapy
NCT04532047	PHASE1	RECRUITING	PEARL (PrEnAtal Enzyme Replacement Therapy for Lysosomal Storage Disorders)
NCT06519552	PHASE1	RECRUITING	A Clinical Study Evaluating the Safety, Tolerability, and Initial Efficacy of JWK008 in Patients With Mucopolysaccharidosis Type I
NCT00638547	PHASE1	COMPLETED	Intrathecal Enzyme Replacement for Hurler Syndrome
NCT01173016	PHASE1	COMPLETED	Administration of IV Laronidase Post Bone Marrow Transplant in Hurler
NCT01917708	PHASE1	COMPLETED	Bone Marrow Transplant With Abatacept for Non-Malignant Diseases
NCT03333200	Not specified	RECRUITING	Longitudinal Study of Neurodegenerative Disorders
NCT03655223	Not specified	ENROLLING_BY_INVITATION	Early Check: Expanded Screening in Newborns
NCT05634512	Not specified	ACTIVE_NOT_RECRUITING	Evaluation of Intravenous Laronidase Pharmacokinetics Before and After Hematopoietic Cell Transplantation in Patients With Mucopolysaccharidosis Type IH.
NCT07361536	Not specified	RECRUITING	Cardiac Structure and Function in MPS
NCT00286689	Not specified	WITHDRAWN	Effects of Growth Hormone in Chronically Ill Children
NCT01572636	Not specified	TERMINATED	Laronidase (Aldurazyme TM) Enzyme Replacement Therapy With Hematopoietic Stem Cell Transplant for Hurler Syndrome
NCT01870375	Not specified	COMPLETED	Longitudinal Studies of Brain Structure and Function in MPS Disorders
NCT01873911	Not specified	COMPLETED	Neurobehavioral Phenotypes in MPS III
NCT01938014	Not specified	COMPLETED	Lysosomal Storage Disease: Health, Development, and Functional Outcome Surveillance in Preschool Children
NCT02067650	Not specified	COMPLETED	Ultrasound Findings of Finger, Wrist and Knee Joints in Mucopolysaccharidosis
NCT02298712	Not specified	WITHDRAWN	Biomarker for Hurler Disease (BioHurler)
NCT03161171	Not specified	COMPLETED	Parental Coping With Challenging Behavior in Mucopolysaccharidosis Type I-III
NCT03576729	Not specified	COMPLETED	MRS to Determine Neuroinflammation and Oxidative Stress in MPS I
NCT03639844	Not specified	NO_LONGER_AVAILABLE	BPX-501 T Cells Infused Post Stem Cell Transplant in Pediatrics With Non-Malignant Disorders Ineligible for BPU004 Study
NCT04958070	Not specified	UNKNOWN	The Intensively Follow-up Examinations for Asymptomatic MPS I Infants in Taiwan
NCT05073783	Not specified	COMPLETED	A Study to Assess the Safety of Myozyme® and of Aldurazyme® in Male and Female Participants of Any Age Group With Pompe Disease or With Mucopolysaccharidosis Type I (MPS I) in a Home-care Setting

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
LARONIDASE	4	4
CYCLOPHOSPHAMIDE ANHYDROUS	4	1
TERFENADINE	4	1
RIMIDUCID	2	1
RIVOGENLECLEUCEL	2	1