Niemann-Pick disease

Summary

Niemann-Pick disease (MONDO:0001982) is a disease caused by SMPD1 (GenCC Definitive), with 4 cohort genes and 17 clinical trials. Top therapeutic interventions include olipudase alfa, busulfan, and cyclophosphamide anhydrous.

At a glance

• Causal gene: SMPD1 (GenCC Definitive)
• Cohort genes: 4
• ClinVar variants: 130
• Clinical trials: 17

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	Niemann-Pick disease
Mondo ID	MONDO:0001982
EFO	EFO:1001380
MeSH	D009542
DOID	DOID:14504
ICD-10-CM	E75.24
ICD-11	398872780
NCIT	C61269
SNOMED CT	58459009
UMLS	C0028064
MedGen	10348
GARD	0013334
Is cancer (heuristic)	no

Also known as: lipoid histiocytosis (classical phosphatide) · Niemann-Pick disease with cholesterol esterification block · Niemann-Pick disease, subacute juvenile form · sphingomyelin/cholesterol lipidosis · type A Niemann-Pick disease

Data availability: 130 ClinVar variants · 1 GenCC gene-disease record · 10 cell lines.

Disease family

An umbrella term covering 4 Mondo subtypes.

Classification path: disease › human disease › disease by body system or component › immune system disorder › lymphoid system disorder › lymphatic system disorder › histiocytosis › non-Langerhans cell histiocytosis › Niemann-Pick disease

Related subtypes (14): sinus histiocytosis with massive lymphadenopathy, hereditary progressive mucinous histiocytosis, sea-blue histiocyte syndrome, multicentric reticulohistiocytosis, generalized eruptive histiocytosis, benign cephalic histiocytosis, juvenile xanthogranuloma, xanthoma disseminatum, papular xanthoma, necrobiotic xanthogranuloma, indeterminate dendritic cell tumor, progressive nodular histiocytosis, Erdheim-Chester disease, xanthogranuloma

Subtypes (4): Niemann-Pick disease type C, Niemann-Pick disease type E, acid sphingomyelinase deficiency, chronic neurovisceral acid sphingomyelinase deficiency

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

130 retrieved; paginated sample, class counts are floors:

36 pathogenic/likely pathogenic, 27 conflicting classifications of pathogenicity, 26 pathogenic, 16 likely pathogenic, 16 uncertain significance, 4 benign/likely benign, 4 likely benign, 1 not provided

ClinVar	Variant (HGVS)	Gene	Classification	Review
198093	NM_000543.5(SMPD1):c.1826GCC[1] (p.Arg610del)	APBB1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2980	NM_000543.5(SMPD1):c.1493G>T (p.Arg498Leu)	APBB1	Pathogenic	criteria provided, multiple submitters, no conflicts
551367	NM_000543.5(SMPD1):c.84del (p.Gly29fs)	LOC130005193	Pathogenic	criteria provided, multiple submitters, no conflicts
2967	NM_000271.5(NPC1):c.3182T>C (p.Ile1061Thr)	NPC1	Pathogenic	criteria provided, multiple submitters, no conflicts
558706	NM_000271.5(NPC1):c.3634G>T (p.Val1212Leu)	NPC1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
986364	NM_000271.5(NPC1):c.99_100del (p.Ala34fs)	NPC1	Pathogenic	criteria provided, multiple submitters, no conflicts
3383995	NM_006432.5(NPC2):c.289del (p.Ile97fs)	NPC2	Pathogenic	criteria provided, single submitter
100731	NM_000543.5(SMPD1):c.739G>A (p.Gly247Ser)	SMPD1	Pathogenic	criteria provided, multiple submitters, no conflicts
1173968	NM_000543.5(SMPD1):c.668G>C (p.Cys223Ser)	SMPD1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1173972	NM_000543.5(SMPD1):c.1148A>G (p.Asn383Ser)	SMPD1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1475471	NM_000543.5(SMPD1):c.1497_1498inv (p.Tyr500His)	SMPD1	Pathogenic	criteria provided, multiple submitters, no conflicts
167709	NM_000543.5(SMPD1):c.475T>C (p.Cys159Arg)	SMPD1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
167710	NM_000543.5(SMPD1):c.573del (p.Ser192fs)	SMPD1	Pathogenic	criteria provided, multiple submitters, no conflicts
167712	NM_000543.5(SMPD1):c.1493G>A (p.Arg498His)	SMPD1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
188955	NM_000543.5(SMPD1):c.1805G>A (p.Arg602His)	SMPD1	Pathogenic	criteria provided, multiple submitters, no conflicts
189075	NM_000543.5(SMPD1):c.1430C>T (p.Pro477Leu)	SMPD1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
189096	NM_000543.5(SMPD1):c.538_539del (p.Leu180fs)	SMPD1	Pathogenic	criteria provided, multiple submitters, no conflicts
189153	NM_000543.5(SMPD1):c.518dup (p.Ser174fs)	SMPD1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
195086	NM_000543.5(SMPD1):c.785_807del (p.Leu262fs)	SMPD1	Pathogenic	criteria provided, multiple submitters, no conflicts
198095	NM_000543.5(SMPD1):c.1492C>T (p.Arg498Cys)	SMPD1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
203424	NM_000543.5(SMPD1):c.416T>C (p.Leu139Pro)	SMPD1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
203427	NM_000543.5(SMPD1):c.1076C>A (p.Ala359Asp)	SMPD1	Pathogenic	criteria provided, single submitter
2136989	NM_000543.5(SMPD1):c.1268A>G (p.His423Arg)	SMPD1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
225624	NM_000543.5(SMPD1):c.1673T>C (p.Leu558Pro)	SMPD1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2982	NM_000543.5(SMPD1):c.1735G>A (p.Gly579Ser)	SMPD1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2984	NM_000543.5(SMPD1):c.788T>A (p.Leu263Ter)	SMPD1	Pathogenic	criteria provided, multiple submitters, no conflicts
2986	NM_000543.5(SMPD1):c.1152G>A (p.Met384Ile)	SMPD1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2987	NM_000543.5(SMPD1):c.730G>A (p.Gly244Arg)	SMPD1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2989	NM_000543.5(SMPD1):c.911T>C (p.Leu304Pro)	SMPD1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2990	NM_000543.5(SMPD1):c.996del (p.Phe333fs)	SMPD1	Pathogenic	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 9 · Orphanet: 12 · 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
SMPD1	Definitive	Autosomal recessive	Niemann-Pick disease	9

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
SMPD1	Orphanet:77292	Infantile neurovisceral acid sphingomyelinase deficiency
SMPD1	Orphanet:77293	Chronic visceral acid sphingomyelinase deficiency
NPC2	Orphanet:216972	Niemann-Pick disease type C, severe perinatal form
NPC2	Orphanet:216975	Niemann-Pick disease type C, severe early infantile neurologic onset
NPC2	Orphanet:216978	Niemann-Pick disease type C, late infantile neurologic onset
NPC2	Orphanet:216981	Niemann-Pick disease type C, juvenile neurologic onset
NPC2	Orphanet:216986	Niemann-Pick disease type C, adult neurologic onset
NPC1	Orphanet:216972	Niemann-Pick disease type C, severe perinatal form
NPC1	Orphanet:216975	Niemann-Pick disease type C, severe early infantile neurologic onset
NPC1	Orphanet:216978	Niemann-Pick disease type C, late infantile neurologic onset
NPC1	Orphanet:216981	Niemann-Pick disease type C, juvenile neurologic onset
NPC1	Orphanet:216986	Niemann-Pick disease type C, adult neurologic onset

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
SMPD1	HGNC:11120	ENSG00000166311	P17405	Sphingomyelin phosphodiesterase	gencc,clinvar
NPC2	HGNC:14537	ENSG00000119655	P61916	NPC intracellular cholesterol transporter 2	clinvar
APBB1	HGNC:581	ENSG00000166313	O00213	Amyloid beta precursor protein binding family B member 1	clinvar
NPC1	HGNC:7897	ENSG00000141458	O15118	NPC intracellular cholesterol transporter 1	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
SMPD1	Sphingomyelin phosphodiesterase	Converts sphingomyelin to ceramide.
NPC2	NPC intracellular cholesterol transporter 2	Intracellular cholesterol transporter which acts in concert with NPC1 and plays an important role in the egress of cholesterol from the lysosomal compartment.
APBB1	Amyloid beta precursor protein binding family B member 1	Transcription coregulator that can have both coactivator and corepressor functions.
NPC1	NPC intracellular cholesterol transporter 1	Intracellular cholesterol transporter which acts in concert with NPC2 and plays an important role in the egress of cholesterol from the endosomal/lysosomal compartment.

Protein-family classification

Druggable: 1 · Difficult: 1 · Unknown: 2 · Druggable fraction: 0.25

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
Scaffold/PPI	1	4.3×	0.441
Enzyme (other)	1	3.0×	0.441
Other/Unknown	2	0.9×	0.769

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
SMPD1	Enzyme (other)	yes	3.1.4.12	Calcineurin-like_PHP, SaposinB_dom, Saposin-like
NPC2	Other/Unknown	no		ML_dom, Ig_E-set, ML_Npc2-like
APBB1	Scaffold/PPI	no		WW_dom, PTB/PI_dom, PH-like_dom_sf
NPC1	Other/Unknown	no		SSD, NPC1-like, NPC1_N

Expression context

Cohort genes with no expression data: 0.

4 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
islet of Langerhans	1
stromal cell of endometrium	1
type B pancreatic cell	1
cauda epididymis	1
corpus epididymis	1
epididymis	1
cerebellar cortex	1
cerebellar hemisphere	1
right hemisphere of cerebellum	1
adrenal tissue	1
oocyte	1
secondary oocyte	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
SMPD1	262	ubiquitous	marker	type B pancreatic cell, stromal cell of endometrium, islet of Langerhans
NPC2	296	ubiquitous	marker	corpus epididymis, cauda epididymis, epididymis
APBB1	242	ubiquitous	marker	right hemisphere of cerebellum, cerebellar hemisphere, cerebellar cortex
NPC1	292	ubiquitous	marker	secondary oocyte, oocyte, adrenal tissue

Protein interactions among cohort

Intra-cohort edges: 2.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
APBB1	2,826
NPC1	2,648
SMPD1	1,729
NPC2	1,706

Intra-cohort edges

A	B	Sources
NPC1	NPC2	intact, string_interaction
NPC2	SMPD1	string_interaction

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
NPC1	O15118	20
APBB1	O00213	11
SMPD1	P17405	4
NPC2	P61916	2

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 12. 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
LDL clearance	2	271.9×	2e-04	NPC2, NPC1
DNA Double Strand Break Response	1	119.0×	0.034	APBB1
Glycosphingolipid metabolism	1	75.1×	0.034	SMPD1
Glycosphingolipid catabolism	1	73.2×	0.034	SMPD1
DNA Double-Strand Break Repair	1	62.1×	0.034	APBB1
Regulation of clotting cascade	1	58.3×	0.034	SMPD1
Sphingolipid metabolism	1	42.0×	0.040	SMPD1
Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks	1	36.6×	0.041	APBB1
DNA Repair	1	24.6×	0.053	APBB1
Metabolism of lipids	1	7.9×	0.145	SMPD1
Neutrophil degranulation	1	5.8×	0.177	NPC2
Metabolism	1	2.9×	0.302	SMPD1

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
cholesterol storage	2	1203.7×	3e-05	NPC2, NPC1
cholesterol metabolic process	3	147.0×	3e-05	SMPD1, NPC2, NPC1
intracellular cholesterol transport	2	648.1×	7e-05	NPC2, NPC1
cholesterol transport	2	366.4×	2e-04	NPC2, NPC1
cholesterol efflux	2	263.3×	3e-04	NPC2, NPC1
symbiont entry into host cell	2	200.6×	4e-04	SMPD1, NPC1
regulation of isoprenoid metabolic process	1	4213.0×	0.002	NPC2
cyclodextrin metabolic process	1	4213.0×	0.002	NPC1
cholesterol homeostasis	2	78.0×	0.002	NPC2, NPC1
response to virus	2	72.0×	0.002	SMPD1, NPC2
termination of signal transduction	1	1404.3×	0.004	SMPD1
intracellular lipid transport	1	1404.3×	0.004	NPC1
glycolipid transport	1	1404.3×	0.004	NPC2
sphingomyelin metabolic process	1	842.6×	0.004	SMPD1
sphingomyelin catabolic process	1	842.6×	0.004	SMPD1
membrane raft organization	1	842.6×	0.004	NPC1
intracellular sterol transport	1	842.6×	0.004	NPC2
gene expression	2	39.9×	0.004	NPC2, NPC1
response to xenobiotic stimulus	2	34.5×	0.004	SMPD1, NPC1
sterol transport	1	702.2×	0.005	NPC1
negative regulation of cell cycle G1/S phase transition	1	601.9×	0.005	APBB1
positive regulation of apoptotic process	2	28.4×	0.006	SMPD1, APBB1
response to type I interferon	1	468.1×	0.006	SMPD1
establishment of protein localization to membrane	1	468.1×	0.006	NPC1
glycosphingolipid catabolic process	1	383.0×	0.007	SMPD1
intestinal cholesterol absorption	1	351.1×	0.007	NPC1
programmed cell death	1	324.1×	0.008	NPC1
positive regulation of viral entry into host cell	1	300.9×	0.008	SMPD1
negative regulation of epithelial cell apoptotic process	1	300.9×	0.008	NPC1
negative regulation of macroautophagy	1	280.9×	0.008	NPC1

Therapeutics

Drugs indicated for this disease

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

Drug	Development status
Miglustat	Approved (phase 4)
Olipudase Alfa	Approved (phase 4)

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

Drug target analysis

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

Druggability breadth: 2 of 4 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
SMPD1	IMIPRAMINE
NPC1	NABUMETONE

Top cohort targets by molecule count

Symbol	Molecules	Max phase
NPC1	90	4
SMPD1	3	4
NPC2	0	0
APBB1	0	0

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
IMIPRAMINE	4	SMPD1
CHLORPROMAZINE	4	SMPD1
NABUMETONE	4	NPC1
PHENELZINE	4	NPC1
AMLEXANOX	4	NPC1
IDARUBICIN	4	NPC1
RABEPRAZOLE SODIUM	4	NPC1
NITAZOXANIDE	4	NPC1
NICLOSAMIDE	4	NPC1
NITROXOLINE	4	NPC1
NICARDIPINE	4	NPC1
DAUNORUBICIN HYDROCHLORIDE	4	NPC1
INDOPROFEN	4	NPC1
CYCLOSPORINE	4	NPC1
TERFENADINE	4	NPC1
DIGOXIN	4	NPC1
PRAZOSIN	4	NPC1
MAPROTILINE	4	NPC1
DIGITOXIN	4	NPC1
HYDRALAZINE	4	NPC1
EBASTINE	4	NPC1
DEQUALINIUM	4	NPC1
DOXORUBICIN HYDROCHLORIDE	4	NPC1
VINBLASTINE SULFATE	4	NPC1
FLUOXETINE	4	NPC1
DITHIAZANINE IODIDE	4	NPC1
TRIFLUOPERAZINE	4	NPC1
PACLITAXEL	4	NPC1
NORTRIPTYLINE	4	NPC1
MIBEFRADIL	4	NPC1

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 1.

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

Symbol	Assays	Type breakdown
SMPD1	42	Binding:40, Functional:2
NPC1	18	Binding:13, Functional:5

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
SMPD1	3.1.4.12	sphingomyelin phosphodiesterase

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

30 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)
IMIPRAMINE	4	SMPD1
CHLORPROMAZINE	4	SMPD1
NABUMETONE	4	NPC1
PHENELZINE	4	NPC1
AMLEXANOX	4	NPC1
IDARUBICIN	4	NPC1
RABEPRAZOLE SODIUM	4	NPC1
NITAZOXANIDE	4	NPC1
NICLOSAMIDE	4	NPC1
NITROXOLINE	4	NPC1
NICARDIPINE	4	NPC1
DAUNORUBICIN HYDROCHLORIDE	4	NPC1
INDOPROFEN	4	NPC1
CYCLOSPORINE	4	NPC1
TERFENADINE	4	NPC1
DIGOXIN	4	NPC1
PRAZOSIN	4	NPC1
MAPROTILINE	4	NPC1
DIGITOXIN	4	NPC1
HYDRALAZINE	4	NPC1
EBASTINE	4	NPC1
DEQUALINIUM	4	NPC1
DOXORUBICIN HYDROCHLORIDE	4	NPC1
VINBLASTINE SULFATE	4	NPC1
FLUOXETINE	4	NPC1
DITHIAZANINE IODIDE	4	NPC1
TRIFLUOPERAZINE	4	NPC1
PACLITAXEL	4	NPC1
NORTRIPTYLINE	4	NPC1
MIBEFRADIL	4	NPC1

Druggability pyramid

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

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	2	SMPD1, NPC1
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	2	NPC2, APBB1

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)
NPC2	0	NPC1
APBB1	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 17.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	11
PHASE1	3
PHASE1/PHASE2	2
PHASE2/PHASE3	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT00176904	PHASE2/PHASE3	COMPLETED	Stem Cell Transplant for Inborn Errors of Metabolism
NCT00730314	PHASE1/PHASE2	COMPLETED	Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells
NCT01372228	PHASE1/PHASE2	TERMINATED	Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders
NCT00316498	PHASE1	COMPLETED	Saccadic Eye Movements in Patients With Niemann-Pick Type C Disease
NCT00410566	PHASE1	TERMINATED	Safety Study of rhASM Enzyme Replacement Therapy in Adults With Acid Sphingomyelinase Deficiency (Niemann-Pick Disease)
NCT01586455	PHASE1	COMPLETED	Human Placental-Derived Stem Cell Transplantation
NCT03333200	Not specified	RECRUITING	Longitudinal Study of Neurodegenerative Disorders
NCT06192576	Not specified	RECRUITING	A Real-world Long-term Safety and Immunogenicity Study of Olipudase Alfa Therapy in Pediatric Patients Less Than 2 Years of Age With Acid Sphingomyelinase Deficiency (ASMD)
NCT06985212	Not specified	NOT_YET_RECRUITING	National Multicentre Study of the Natural History of Acid Sphingo-myelinase Deficiency in Adults and Children
NCT07545473	Not specified	RECRUITING	Retinal Hyperspectral Imaging in Neurodegenerative Diseases
NCT00001972	Not specified	COMPLETED	PET Scan of Brain Metabolism in Relation to Age and Disease
NCT00005900	Not specified	UNKNOWN	Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation
NCT01306604	Not specified	WITHDRAWN	Biomarker for Niemann Pick Type C Disease (BioNPC)
NCT02120235	Not specified	UNKNOWN	Investigating Lysosomal Storage Diseases in Minority Groups
NCT03883750	Not specified	COMPLETED	Induced Pluripotent Stem Cells for Niemann Pick Disease
NCT04469894	Not specified	COMPLETED	Health Insurance Literacy and Challenges in Accessing Health Services in Niemann-Pick
NCT05641103	Not specified	COMPLETED	PREDIGA 2: Spanish Acronym of Educational and Diagnostic Project for Gaucher and ASMD

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
OLIPUDASE ALFA	4	2
BUSULFAN	4	1
CYCLOPHOSPHAMIDE ANHYDROUS	4	1