Alpha-mannosidosis

Summary

Alpha-mannosidosis (MONDO:0009561) is a disease caused by MAN2B1 (GenCC Definitive), with 2 cohort genes and 21 clinical trials. Top therapeutic interventions include velmanase alfa and cyclophosphamide anhydrous.

At a glance

• Prevalence: 1-9 / 1 000 000 (Europe) [Orphanet-validated]
• Causal gene: MAN2B1 (GenCC Definitive)
• Cohort genes: 2
• ClinVar variants: 1,802
• Phenotypes (HPO): 42
• Clinical trials: 21

Clinical features

Epidemiology

Prevalence records

7 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Point prevalence	1-9 / 1 000 000	0.1	Europe	Validated
Prevalence at birth	<1 / 1 000 000	0.09	Australia	Validated
Prevalence at birth	<1 / 1 000 000	0.09	Netherlands	Validated
Prevalence at birth	1-9 / 1 000 000	0.12	Portugal	Validated
Prevalence at birth	1-9 / 1 000 000	0.38	Czech Republic	Validated
Prevalence at birth	<1 / 1 000 000	0.07	Sweden	Validated
Prevalence at birth	1-9 / 1 000 000	0.13	Norway	Not yet validated

Signs & symptoms

Clinical features (HPO)

42 HPO clinical features (Orphanet curated; top 42 by frequency):

HPO ID	Term	Frequency
HP:0000158	Macroglossia	Very frequent (80-99%)
HP:0000280	Coarse facial features	Very frequent (80-99%)
HP:0000365	Hearing impairment	Very frequent (80-99%)
HP:0000518	Cataract	Very frequent (80-99%)
HP:0001249	Intellectual disability	Very frequent (80-99%)
HP:0001263	Global developmental delay	Very frequent (80-99%)
HP:0001744	Splenomegaly	Very frequent (80-99%)
HP:0002240	Hepatomegaly	Very frequent (80-99%)
HP:0002652	Skeletal dysplasia	Very frequent (80-99%)
HP:0002750	Delayed skeletal maturation	Very frequent (80-99%)
HP:0004493	Craniofacial hyperostosis	Very frequent (80-99%)
HP:0005280	Depressed nasal bridge	Very frequent (80-99%)
HP:0005978	Type II diabetes mellitus	Very frequent (80-99%)
HP:0007957	Corneal opacity	Very frequent (80-99%)
HP:0008821	Hypoplastic inferior ilia	Very frequent (80-99%)
HP:0000023	Inguinal hernia	Frequent (30-79%)
HP:0000189	Narrow palate	Frequent (30-79%)
HP:0000212	Gingival overgrowth	Frequent (30-79%)
HP:0000316	Hypertelorism	Frequent (30-79%)
HP:0000336	Prominent supraorbital ridges	Frequent (30-79%)
HP:0000389	Chronic otitis media	Frequent (30-79%)
HP:0000400	Macrotia	Frequent (30-79%)
HP:0000470	Short neck	Frequent (30-79%)
HP:0000708	Atypical behavior	Frequent (30-79%)
HP:0001252	Hypotonia	Frequent (30-79%)
HP:0001385	Hip dysplasia	Frequent (30-79%)
HP:0002650	Scoliosis	Frequent (30-79%)
HP:0002808	Kyphosis	Frequent (30-79%)
HP:0006487	Bowing of the long bones	Frequent (30-79%)
HP:0010807	Open bite	Frequent (30-79%)
HP:0011039	Abnormality of the helix	Frequent (30-79%)
HP:0011354	Generalized abnormality of skin	Frequent (30-79%)
HP:0000256	Macrocephaly	Occasional (5-29%)
HP:0000303	Mandibular prognathia	Occasional (5-29%)
HP:0000687	Widely spaced teeth	Occasional (5-29%)
HP:0000689	Dental malocclusion	Occasional (5-29%)
HP:0000738	Hallucinations	Occasional (5-29%)
HP:0001369	Arthritis	Occasional (5-29%)
HP:0002205	Recurrent respiratory infections	Occasional (5-29%)
HP:0002516	Increased intracranial pressure	Occasional (5-29%)
HP:0010885	Avascular necrosis	Occasional (5-29%)
HP:0100240	Synostosis of joints	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	alpha-mannosidosis
Mondo ID	MONDO:0009561
MeSH	D008363
OMIM	248500
Orphanet	61
DOID	DOID:3413
ICD-11	1944256516
NCIT	C84548
SNOMED CT	65524005
UMLS	C0024748
MedGen	7467
GARD	0006968
NORD	755
Is cancer (heuristic)	no

Also known as: Alpha mannosidase B deficiency · alpha-mannosidosis · lysosomal alpha-D-mannosidase deficiency · mannosidosis, alpha B lysosomal · mannosidosis, ALPHA B, lysosomal · mannosidosis, alpha-, types I and II · MANSA

Data availability: 1,802 ClinVar variants · 6 GenCC gene-disease records · 7 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 › alpha-mannosidosis

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, 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): alpha-mannosidosis, infantile form, alpha-mannosidosis, adult form, alpha-mannosidosis type 1

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:

364 likely benign, 133 uncertain significance, 39 likely pathogenic, 32 pathogenic, 18 pathogenic/likely pathogenic, 8 conflicting classifications of pathogenicity, 6 benign

ClinVar	Variant (HGVS)	Gene	Classification	Review
1071919	NM_000528.4(MAN2B1):c.1351_1366dup (p.His456fs)	LOC129391064	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
189068	NM_000528.4(MAN2B1):c.1383C>G (p.Tyr461Ter)	LOC129391064	Pathogenic	criteria provided, multiple submitters, no conflicts
1069435	NM_000528.4(MAN2B1):c.53_69dup (p.Met24fs)	LOC130063650	Pathogenic	criteria provided, single submitter
1408041	NM_000528.4(MAN2B1):c.66G>A (p.Trp22Ter)	LOC130063650	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1458260	NM_000528.4(MAN2B1):c.9del (p.Tyr4fs)	LOC130063650	Pathogenic	criteria provided, single submitter
1028817	NM_000528.4(MAN2B1):c.1228C>T (p.Gln410Ter)	MAN2B1	Pathogenic	criteria provided, multiple submitters, no conflicts
1069975	NM_000528.4(MAN2B1):c.323_324delinsAA (p.Leu108Ter)	MAN2B1	Pathogenic	criteria provided, single submitter
1070095	NM_000528.4(MAN2B1):c.2534_2558del (p.Leu845fs)	MAN2B1	Pathogenic	criteria provided, multiple submitters, no conflicts
1070420	NM_000528.4(MAN2B1):c.293dup (p.Tyr99fs)	MAN2B1	Pathogenic	criteria provided, multiple submitters, no conflicts
1071094	NM_000528.4(MAN2B1):c.2175G>A (p.Trp725Ter)	MAN2B1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1072384	NM_000528.4(MAN2B1):c.105_106del (p.Cys36fs)	MAN2B1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1073277	NM_000528.4(MAN2B1):c.1048dup (p.His350fs)	MAN2B1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1073719	NM_000528.4(MAN2B1):c.2414_2417del (p.Arg805fs)	MAN2B1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1073941	NM_000528.4(MAN2B1):c.2748_2751del (p.Leu917fs)	MAN2B1	Pathogenic	criteria provided, multiple submitters, no conflicts
1074138	NM_000528.4(MAN2B1):c.484_487dup (p.Thr163fs)	MAN2B1	Pathogenic	criteria provided, single submitter
1075422	NM_000528.4(MAN2B1):c.437-1dup	MAN2B1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1075883	NM_000528.4(MAN2B1):c.1081del (p.Trp361fs)	MAN2B1	Pathogenic	criteria provided, multiple submitters, no conflicts
1323267	NM_000528.4(MAN2B1):c.1528-1G>A	MAN2B1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1323268	NM_000528.4(MAN2B1):c.262+1G>C	MAN2B1	Pathogenic	criteria provided, single submitter
1343494	NM_000528.4(MAN2B1):c.1026+2T>G	MAN2B1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1350785	NM_000528.4(MAN2B1):c.237_238del (p.Lys79fs)	MAN2B1	Pathogenic	criteria provided, single submitter
1365083	NM_000528.4(MAN2B1):c.161_162del (p.Thr54fs)	MAN2B1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1365949	NM_000528.4(MAN2B1):c.1117A>T (p.Lys373Ter)	MAN2B1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1366519	NM_000528.4(MAN2B1):c.1468_1469del (p.Phe490fs)	MAN2B1	Pathogenic	criteria provided, single submitter
1372339	NM_000528.4(MAN2B1):c.2920dup (p.Thr974fs)	MAN2B1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1373944	NM_000528.4(MAN2B1):c.979_980del (p.Met327fs)	MAN2B1	Pathogenic	criteria provided, single submitter
1377818	NM_000528.4(MAN2B1):c.1140C>A (p.Tyr380Ter)	MAN2B1	Pathogenic	criteria provided, single submitter
1399644	NM_000528.4(MAN2B1):c.2647del (p.Ala883fs)	MAN2B1	Pathogenic	criteria provided, single submitter
1403859	NM_000528.4(MAN2B1):c.212_215del (p.Thr71fs)	MAN2B1	Pathogenic	criteria provided, single submitter
1404053	NM_000528.4(MAN2B1):c.965_966del (p.Gln321_Tyr322insTer)	MAN2B1	Pathogenic	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 6 · 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
MAN2B1	Definitive	Autosomal recessive	alpha-mannosidosis	6

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
MAN2B1	Orphanet:309282	Alpha-mannosidosis, infantile form
MAN2B1	Orphanet:309288	Alpha-mannosidosis, adult form
ACP5	Orphanet:1855	Spondyloenchondrodysplasia

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
MAN2B1	HGNC:6826	ENSG00000104774	O00754	Lysosomal alpha-mannosidase	gencc,clinvar
ACP5	HGNC:124	ENSG00000102575	P13686	Tartrate-resistant acid phosphatase type 5	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
MAN2B1	Lysosomal alpha-mannosidase	Can hydrolyze a variety of glycan substrates containing terminal alpha-mannosidic linkages.
ACP5	Tartrate-resistant acid phosphatase type 5	Involved in osteopontin/bone sialoprotein dephosphorylation.

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
Enzyme (other)	2	12.0×	0.007

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
MAN2B1	Enzyme (other)	yes	3.2.1.24	Glyco_hydro_38_N, Gal_mutarotase_sf_dom, Glyco_hydro/deAcase_b/a-brl
ACP5	Enzyme (other)	yes	3.1.3.2	Calcineurin-like_PHP, Acid_PPase, Metallo-depent_PP-like

Expression context

Cohort genes with no expression data: 0.

2 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)	2
unknown	0

Top tissues across cohort

Tissue	Cohort genes
bone marrow cell	1
granulocyte	1
monocyte	1
periodontal ligament	1
right lung	1
upper lobe of left lung	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
MAN2B1	138	ubiquitous	marker	bone marrow cell, granulocyte, monocyte
ACP5	233	broad	marker	periodontal ligament, upper lobe of left lung, right lung

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
ACP5	2,983
MAN2B1	1,077

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
ACP5	P13686	2

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
MAN2B1	O00754	91.78

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 7. 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
Lysosomal oligosaccharide catabolism	1	1427.5×	0.004	MAN2B1
Vitamin B2 (riboflavin) metabolism	1	815.7×	0.004	ACP5
Metabolism of carbohydrates and carbohydrate derivatives	1	60.1×	0.039	MAN2B1
Innate Immune System	1	12.8×	0.119	MAN2B1
Neutrophil degranulation	1	11.5×	0.119	MAN2B1
Immune System	1	6.5×	0.165	MAN2B1
Metabolism	1	5.8×	0.165	MAN2B1

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
negative regulation of superoxide anion generation	1	4213.0×	0.004	ACP5
mannose metabolic process	1	1053.2×	0.006	MAN2B1
negative regulation of macrophage cytokine production	1	601.9×	0.006	ACP5
glycoprotein catabolic process	1	526.6×	0.006	MAN2B1
negative regulation of interleukin-12 production	1	526.6×	0.006	ACP5
negative regulation of nitric oxide biosynthetic process	1	495.6×	0.006	ACP5
nitric oxide biosynthetic process	1	351.1×	0.006	ACP5
superoxide anion generation	1	337.0×	0.006	ACP5
bone morphogenesis	1	300.9×	0.006	ACP5
bone resorption	1	290.6×	0.006	ACP5
negative regulation of interleukin-1 beta production	1	255.3×	0.006	ACP5
response to cytokine	1	187.2×	0.008	ACP5
negative regulation of tumor necrosis factor production	1	125.8×	0.010	ACP5
learning or memory	1	120.4×	0.010	MAN2B1
negative regulation of inflammatory response	1	68.5×	0.016	ACP5
defense response to Gram-positive bacterium	1	63.8×	0.016	ACP5
response to lipopolysaccharide	1	62.4×	0.016	ACP5

Therapeutics

Drugs indicated for this disease

1 approved. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

Drug	Development status
Velmanase Alfa	Approved (phase 4)

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · 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).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
MAN2B1	1	2
ACP5	0	0

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
TRIDOLGOSIR	2	MAN2B1

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 2.

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

Symbol	Assays	Type breakdown
MAN2B1	53	Binding:52, ADMET:1

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
MAN2B1	3.2.1.24	alpha-mannosidase
ACP5	3.1.3.2	acid phosphatase

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)
TRIDOLGOSIR	2	MAN2B1

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	1	MAN2B1
C	Druggable family + PDB, no drug	1	ACP5
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	0

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)
ACP5	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 21.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	7
PHASE2	6
PHASE3	5
PHASE1	2
PHASE1/PHASE2	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT01681953	PHASE3	COMPLETED	A Placebo-Controlled Phase 3 Trial of Repeated Lamazym Treatment of Subjects With Alpha-Mannosidosis
NCT01908712	PHASE3	COMPLETED	Lamazym Aftercare Study FR Designed to Provide Treatment for French Patients
NCT01908725	PHASE3	COMPLETED	Lamazym Aftercare Study
NCT02478840	PHASE3	COMPLETED	Evaluation of Long-term Efficacy of Treatment With Lamazym
NCT04031066	PHASE3	WITHDRAWN	Interventional Study to Assess Efficacy and Safety of Velmanase Alfa in Patients With Alpha Mannosidosis
NCT02171104	PHASE2	ACTIVE_NOT_RECRUITING	MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis
NCT00668564	PHASE2	TERMINATED	Hematopoietic Stem Cell Transplantation (HCT) for Inborn Errors of Metabolism
NCT01043640	PHASE2	COMPLETED	Allogeneic Bone Marrow Transplant for Inherited Metabolic Disorders
NCT01285700	PHASE2	UNKNOWN	Dose Finding Study of Recombinant Human Alpha-mannosidase for the Treatment of Patients With Alpha-mannosidosis
NCT01372228	PHASE1/PHASE2	TERMINATED	Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders
NCT01681940	PHASE2	COMPLETED	Long-term Efficacy and Safety of Lamazym for the Treatment of Patients With Alpha-Mannosidosis
NCT02998879	PHASE2	COMPLETED	Trial on Safety and Efficacy of Velmanase Alfa Treatment in Pediatric Patients With Alpha-Mannosidosis
NCT02254863	PHASE1	RECRUITING	UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells
NCT01268358	PHASE1	COMPLETED	Safety Study of Recombinant Human Alpha-mannosidase for the Treatment of Patients With Alpha-mannosidosis
NCT03333200	Not specified	RECRUITING	Longitudinal Study of Neurodegenerative Disorders
NCT04959240	Not specified	AVAILABLE	Expanded Access to Velmanase Alfa
NCT06184503	Not specified	RECRUITING	Analysis of Velmanase Alfa (Lamzede®)’s Effects in the Body of Children With Alpha-Mannosidosis Under the Age 3
NCT00498420	Not specified	COMPLETED	The Natural History of Alpha-Mannosidosis
NCT01891422	Not specified	COMPLETED	Longitudinal Studies of the Glycoproteinoses
NCT02141503	Not specified	COMPLETED	Clinical Biomarkers in Alpha-mannosidosis
NCT03264040	Not specified	WITHDRAWN	Biomarker for Mannosidosis Disease (BioMannosidosis)

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
VELMANASE ALFA	4	10
CYCLOPHOSPHAMIDE ANHYDROUS	4	2