DRP2

Summary

DRP2 (dystrophin related protein 2, HGNC:3032) is a protein-coding gene on chromosome Xq22.1, encoding Dystrophin-related protein 2 (Q13474). Required for normal myelination and for normal organization of the cytoplasm and the formation of Cajal bands in myelinating Schwann cells.

Members of the dystrophin family of proteins perform a critical role in the maintenance of membrane-associated complexes at points of intercellular contact in vertebrate cells. The protein encoded by this gene is predicted to resemble certain short C-terminal isoforms of dystrophin and dystrophin-related protein 1 (DRP1 or utrophin). DRP2 is expressed principally in the brain and spinal cord. Two transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 1821 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Charcot-Marie-Tooth disease (Strong, GenCC)
• Clinical variants (ClinVar): 567 total — 15 pathogenic, 4 likely-pathogenic
• Phenotypes (HPO): 1
• MANE Select transcript: NM_001939

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:3032
Approved symbol	DRP2
Name	dystrophin related protein 2
Location	Xq22.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000102385
Ensembl biotype	protein_coding
OMIM	300052
Entrez	1821

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 6 protein_coding, 1 nonsense_mediated_decay

ENST00000372916, ENST00000395209, ENST00000402866, ENST00000538510, ENST00000541709, ENST00000869533, ENST00000869534

RefSeq mRNA: 2 — MANE Select: NM_001939 NM_001171184, NM_001939

CCDS: CCDS14480, CCDS55465

Canonical transcript exons

ENST00000395209 — 24 exons

Exon	Start	End
ENSE00000673919	101237619	101237775
ENSE00000673920	101238981	101239101
ENSE00000673921	101241668	101241936
ENSE00000673924	101242904	101242982
ENSE00000673932	101250917	101251083
ENSE00000673933	101252605	101252716
ENSE00000673934	101254425	101254561
ENSE00000673935	101254859	101254924
ENSE00000673937	101255184	101255249
ENSE00000673938	101256118	101256261
ENSE00000673939	101258309	101258546
ENSE00000673940	101260049	101260169
ENSE00001255296	101242325	101242471
ENSE00001368214	101219786	101220146
ENSE00001372707	101224604	101224706
ENSE00001459043	101231585	101231764
ENSE00003483903	101248514	101248599
ENSE00003539178	101248089	101248290
ENSE00003542092	101235860	101236023
ENSE00003545332	101245017	101245077
ENSE00003546782	101250423	101250580
ENSE00003622966	101245388	101245449
ENSE00003648774	101247090	101247164
ENSE00003913922	101260497	101264502

Expression profiles

Bgee: expression breadth ubiquitous, 151 present calls, max score 96.12.

FANTOM5 (CAGE): breadth broad, TPM avg 1.8808 / max 86.1217, expressed in 437 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
196946	0.5888	184
196942	0.4924	194
196947	0.3257	150
196943	0.3210	171
196944	0.1212	66
196945	0.0317	15

Top tissues by expression

281 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
trigeminal ganglion	UBERON:0001675	96.12	gold quality
tibial nerve	UBERON:0001323	96.03	gold quality
dorsal root ganglion	UBERON:0000044	95.07	gold quality
sural nerve	UBERON:0015488	90.86	gold quality
hair follicle	UBERON:0002073	85.88	gold quality
diaphragm	UBERON:0001103	84.62	gold quality
olfactory bulb	UBERON:0002264	84.26	silver quality
type B pancreatic cell	CL:0000169	82.77	gold quality
prefrontal cortex	UBERON:0000451	82.48	gold quality
right frontal lobe	UBERON:0002810	81.55	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	80.80	gold quality
Brodmann (1909) area 9	UBERON:0013540	80.12	gold quality
frontal cortex	UBERON:0001870	79.63	gold quality
nucleus accumbens	UBERON:0001882	79.22	gold quality
neocortex	UBERON:0001950	78.99	gold quality
cingulate cortex	UBERON:0003027	78.56	gold quality
anterior cingulate cortex	UBERON:0009835	78.39	gold quality
cerebral cortex	UBERON:0000956	77.12	gold quality
telencephalon	UBERON:0001893	76.26	gold quality
caudate nucleus	UBERON:0001873	75.91	gold quality
cervix squamous epithelium	UBERON:0006922	75.77	gold quality
primary visual cortex	UBERON:0002436	75.45	gold quality
superior frontal gyrus	UBERON:0002661	75.36	gold quality
upper arm skin	UBERON:0004263	75.24	gold quality
ventricular zone	UBERON:0003053	75.13	gold quality
Brodmann (1909) area 46	UBERON:0006483	75.01	silver quality
postcentral gyrus	UBERON:0002581	74.83	gold quality
putamen	UBERON:0001874	74.77	gold quality
forebrain	UBERON:0001890	74.65	gold quality
occipital lobe	UBERON:0002021	74.62	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.23

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

141 targeting DRP2, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-432-3P	100.00	67.86	705
HSA-MIR-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-4481	100.00	66.42	1669
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-4745-5P	99.98	65.95	1028
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-144-3P	99.94	73.98	2698
HSA-MIR-101-3P	99.94	75.03	2230
HSA-MIR-1236-3P	99.94	68.04	1695
HSA-MIR-627-3P	99.90	71.42	3316
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-3151-5P	99.86	63.83	1069
HSA-MIR-369-3P	99.85	70.52	2264
HSA-MIR-130B-5P	99.83	68.50	1888
HSA-MIR-3180-5P	99.82	69.12	2422
HSA-MIR-6756-5P	99.82	67.97	2466
HSA-MIR-6739-5P	99.80	67.87	2806
HSA-MIR-4668-5P	99.79	70.58	3782
HSA-MIR-4319	99.76	69.83	2586
HSA-MIR-92A-2-5P	99.75	67.01	2164
HSA-MIR-6745	99.74	65.33	1321
HSA-MIR-6733-5P	99.74	67.94	2759
HSA-MIR-8084	99.73	69.57	1760
HSA-MIR-3714	99.71	70.74	2671
HSA-MIR-6766-5P	99.68	67.70	2325
HSA-MIR-3202	99.66	67.70	2737
HSA-MIR-1287-3P	99.63	66.93	492
HSA-MIR-4743-3P	99.62	68.12	2095

Literature-anchored findings (GeneRIF, showing 2)

• Among the genes found disrupted in this study, there is evidence suggesting that YWHAZ and also the X-linked DRP2 may be considered as novel autism candidate genes. (PMID:23999528)
• Expanding the Clinical Spectrum of DRP2-Associated Charcot-Marie-Tooth Disease. (PMID:38513194)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	drp2	ENSDARG00000101419
mus_musculus	Drp2	ENSMUSG00000000223
rattus_norvegicus	Drp2	ENSRNOG00000026704

Paralogs (36): SYNE2 (ENSG00000054654), SPTB (ENSG00000070182), ACTN1 (ENSG00000072110), ACTN2 (ENSG00000077522), DSP (ENSG00000096696), SPTBN1 (ENSG00000115306), MACF1 (ENSG00000127603), FLNC (ENSG00000128591), ACTN4 (ENSG00000130402), SYNE1 (ENSG00000131018), MICAL2 (ENSG00000133816), DTNA (ENSG00000134769), MICAL1 (ENSG00000135596), FLNB (ENSG00000136068), SPTBN5 (ENSG00000137877), DTNB (ENSG00000138101), GAS2L3 (ENSG00000139354), DST (ENSG00000151914), UTRN (ENSG00000152818), SPTBN4 (ENSG00000160460), SPTA1 (ENSG00000163554), CLMN (ENSG00000165959), PKHD1 (ENSG00000170927), SPTBN2 (ENSG00000173898), SYNE3 (ENSG00000176438), PLEC (ENSG00000178209), SMTNL2 (ENSG00000188176), FLNA (ENSG00000196924), SPTAN1 (ENSG00000197694), DMD (ENSG00000198947), PKHD1L1 (ENSG00000205038), DYTN (ENSG00000232125), MICAL3 (ENSG00000243156), ACTN3 (ENSG00000248746), EPPK1 (ENSG00000261150), GAS2L2 (ENSG00000270765)

Protein

Protein identifiers

Dystrophin-related protein 2 — Q13474 (reviewed: Q13474)

All UniProt accessions (2): Q13474, F2Z3K8

UniProt curated annotations — full annotation on UniProt →

Function. Required for normal myelination and for normal organization of the cytoplasm and the formation of Cajal bands in myelinating Schwann cells. Required for normal PRX location at appositions between the abaxonal surface of the myelin sheath and the Schwann cell plasma membrane. Possibly involved in membrane-cytoskeleton interactions of the central nervous system.

Subunit / interactions. Interacts with PRX; this enhances phosphorylation. Identified in a dystroglycan complex that contains at least PRX, DRP2, UTRN, DMD and DAG1.

Subcellular location. Postsynaptic density. Cell projection. Dendrite. Perikaryon. Cell membrane.

Tissue specificity. Detected in fetal brain.

Isoforms (2)

UniProt ID	Names	Canonical?
Q13474-1	1	yes
Q13474-2	2

RefSeq proteins (2): NP_001164655, NP_001930* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000433	Znf_ZZ	Domain
IPR001202	WW_dom	Domain
IPR002017	Spectrin_repeat	Repeat
IPR011992	EF-hand-dom_pair	Homologous_superfamily
IPR015153	EF-hand_dom_typ1	Domain
IPR015154	EF-hand_dom_typ2	Domain
IPR017433	Dystrophin-related_2	Family
IPR018159	Spectrin/alpha-actinin	Repeat
IPR036020	WW_dom_sf	Homologous_superfamily
IPR043145	Znf_ZZ_sf	Homologous_superfamily
IPR050774	KCMF1/Dystrophin	Family

Pfam: PF00397, PF00435, PF00569, PF09068, PF09069

UniProt features (20 total): sequence conflict 5, binding site 4, repeat 2, modified residue 2, chain 1, splice variant 1, sequence variant 1, domain 1, zinc finger region 1, region of interest 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q13474-F1	74.10	0.42

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (4): 637; 610; 613; 634

Post-translational modifications (2): 748, 910

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-9619665	EGR2 and SOX10-mediated initiation of Schwann cell myelination
R-HSA-9913351	Formation of the dystrophin-glycoprotein complex (DGC)

MSigDB gene sets: 94 (showing top): GCANCTGNY_MYOD_Q6, CAGCTG_AP4_Q5, GOBP_CELL_CELL_SIGNALING, GOBP_CELL_JUNCTION_ORGANIZATION, MYOD_01, TGCTGAY_UNKNOWN, TGANTCA_AP1_C, GOBP_SYNAPTIC_SIGNALING, NRF2_Q4, RYTTCCTG_ETS2_B, NRF2_01, GOCC_NEURON_PROJECTION, CDPCR3HD_01, NFE2_01, GOCC_POSTSYNAPSE

GO Biological Process (3): central nervous system development (GO:0007417), synapse organization (GO:0050808), synaptic signaling (GO:0099536)

GO Molecular Function (3): zinc ion binding (GO:0008270), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (8): plasma membrane (GO:0005886), postsynaptic density (GO:0014069), dendrite (GO:0030425), perikaryon (GO:0043204), glutamatergic synapse (GO:0098978), membrane (GO:0016020), cell projection (GO:0042995), synapse (GO:0045202)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Nervous system development	1
Non-integrin membrane-ECM interactions	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
synapse	2
nervous system development	1
system development	1
cell junction organization	1
cell-cell signaling	1
transition metal ion binding	1
binding	1
cation binding	1
membrane	1
cell periphery	1
asymmetric synapse	1
postsynaptic specialization	1
neuron projection	1
dendritic tree	1
neuronal cell body	1
cell junction	1

Protein interactions and networks

STRING

626 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DRP2	PRX	Q9BXM0	988
DRP2	SSPN	Q14714	623
DRP2	BTK	Q06187	560
DRP2	SNTB2	Q13425	527
DRP2	SNTB1	Q13884	500
DRP2	SNTA1	Q13424	457
DRP2	GLDN	Q6ZMI3	451
DRP2	DAG1	Q14118	437
DRP2	VPS26C	O14972	389
DRP2	RAB11FIP4	Q86YS3	389
DRP2	RAB11FIP3	O75154	379
DRP2	CNTNAP1	P78357	377
DRP2	CLDN19	Q8N6F1	376
DRP2	ADAM23	O75077	364
DRP2	NOS1AP	O75052	353

IntAct

4 interactions, top by confidence:

A	B	Type	Score
DTNA	DRP2	psi-mi:“MI:0407”(direct interaction)	0.440
DRP2	HNRNPK	psi-mi:“MI:0915”(physical association)	0.400
DISC1	DRP2	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (7): DRP2 (Far Western), DRP2 (Proximity Label-MS), PRX (Reconstituted Complex), DAG1 (Two-hybrid), DRP2 (Affinity Capture-Western), DRP2 (Proximity Label-MS), DRP2 (Cross-Linking-MS (XL-MS))

ESM2 similar proteins: A0A8I6A2H6, A2VEI2, A4IG32, A4IHK8, A5D7A0, D2HZB0, D4A1F2, E9Q4Z2, F1MF74, O00763, O08874, O14795, O94851, P23092, Q05AA6, Q08BI9, Q13474, Q17QM6, Q3TWN3, Q4FZY0, Q4KUS2, Q4V8B2, Q5E9V1, Q5R9G1, Q5RDI4, Q5U2P1, Q5ZJT0, Q62768, Q62769, Q69ZT9, Q6DFA1, Q86XE3, Q8BHD4, Q8BML1, Q8IWE4, Q8K0V2, Q8WN03, Q96C19, Q9BQI0, Q9BUP0

Diamond homologs: A2CI97, A2CI98, A2CJ06, G3V7L1, O97592, P11530, P11531, P11532, P11533, P46939, Q05AA6, Q0KI50, Q13474, Q5GN48, Q7YU29, Q8NEG5, Q9EPA0, Q9TW65, Q9VDW3, Q9VDW6, Q9Y4J8, O60941, O70585, P84060, Q4U2R1, Q9D2N4, Q9VUX2, A5D7D1, D3ZEN0, D3ZHA0, D3ZHV2, D3ZQL6, E1BBG2, F1MF74, G3MWR8, L7UZ85, M9MRD1, O13728, O15020, O43707

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

567 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	15
Likely pathogenic	4
Uncertain significance	297
Likely benign	165
Benign	44

Top pathogenic / likely-pathogenic (19)

Variant ID	HGVS	Classification
1360406	NM_001939.3(DRP2):c.1294G>T (p.Glu432Ter)	Pathogenic
1451551	NM_001939.3(DRP2):c.2350G>T (p.Glu784Ter)	Pathogenic
1454533	NM_001939.3(DRP2):c.2512_2524del (p.Glu838fs)	Pathogenic
1909090	NM_001939.3(DRP2):c.424A>T (p.Lys142Ter)	Pathogenic
2000341	NM_001939.3(DRP2):c.1738G>T (p.Glu580Ter)	Pathogenic
2422510	NC_000023.10:g.(?100499986)(100662891_?)del	Pathogenic
2424325	NC_000023.10:g.(?100486637)(100515610_?)del	Pathogenic
2696145	NM_001939.3(DRP2):c.2356C>T (p.Gln786Ter)	Pathogenic
2792806	NM_001939.3(DRP2):c.2307del (p.Phe769fs)	Pathogenic
2809124	NM_001939.3(DRP2):c.2158C>T (p.Arg720Ter)	Pathogenic
2967325	NM_001939.3(DRP2):c.958C>T (p.Arg320Ter)	Pathogenic
3015752	NM_001939.3(DRP2):c.94C>T (p.Arg32Ter)	Pathogenic
3606919	NM_001939.3(DRP2):c.2065C>T (p.Arg689Ter)	Pathogenic
4730160	NM_001939.3(DRP2):c.2327del (p.Ser776fs)	Pathogenic
4734175	NM_001939.3(DRP2):c.521del (p.Pro174fs)	Pathogenic
1491516	NM_001939.3(DRP2):c.2114+1G>A	Likely pathogenic
2839242	NM_001939.3(DRP2):c.1677_1698+44del	Likely pathogenic
3684454	NM_001939.3(DRP2):c.1866-1G>A	Likely pathogenic
493540	NM_001939.3(DRP2):c.379del (p.Ala127fs)	Likely pathogenic

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

6320 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
X:101245020:C:T	S353F	1.000
X:101245023:T:A	V354D	1.000
X:101245034:T:A	W358R	1.000
X:101245034:T:C	W358R	1.000
X:101245042:A:C	R360S	1.000
X:101245042:A:T	R360S	1.000
X:101245043:G:C	A361P	1.000
X:101245062:T:A	V367D	1.000
X:101245065:C:A	P368H	1.000
X:101245065:C:G	P368R	1.000
X:101245067:T:A	Y369N	1.000
X:101245067:T:C	Y369H	1.000
X:101245067:T:G	Y369D	1.000
X:101245070:T:G	Y370D	1.000
X:101245410:T:A	W380R	1.000
X:101245410:T:C	W380R	1.000
X:101245411:G:C	W380S	1.000
X:101245412:G:C	W380C	1.000
X:101245412:G:T	W380C	1.000
X:101245417:A:G	H382R	1.000
X:101245418:T:A	H382Q	1.000
X:101245418:T:G	H382Q	1.000
X:101245419:C:T	P383S	1.000
X:101245420:C:A	P383H	1.000
X:101247122:C:A	R404S	1.000
X:101247123:G:C	R404P	1.000
X:101247138:T:C	L409P	1.000
X:101248188:T:C	L451P	1.000
X:101248253:G:C	D473H	1.000
X:101248254:A:T	D473V	1.000

dbSNP variants (sampled 300 via entrez): RS1000069893 (X:101218743 G>A), RS1000216686 (X:101224009 G>A), RS1000515048 (X:101234180 C>T), RS1000667961 (X:101257062 G>A), RS1000956001 (X:101261122 G>A,T), RS1001029702 (X:101261695 G>A), RS1001282144 (X:101250747 G>A), RS1001361576 (X:101223943 A>C), RS1001406470 (X:101225717 TG>T), RS1001417092 (X:101242042 C>T), RS1001676136 (X:101222909 C>G), RS1001713344 (X:101251215 T>C), RS1001770374 (X:101260440 C>T), RS1001825794 (X:101257318 T>C), RS1001858980 (X:101225152 G>T)

Disease associations

OMIM: gene MIM:300052 | disease phenotypes: MIM:118220, MIM:301500, MIM:209850, MIM:302800, MIM:302900

GenCC curated gene-disease

Disease	Classification	Inheritance
Charcot-Marie-Tooth disease	Strong	X-linked

Mondo (6): Charcot-Marie-Tooth disease (MONDO:0015626), Charcot-Marie-Tooth disease type X (MONDO:0018994), Fabry disease (MONDO:0010526), hereditary motor and sensory neuropathy (MONDO:0015358), autism (MONDO:0005260), Charcot-Marie-Tooth disease X-linked dominant 1 (MONDO:0010549)

Orphanet (5): Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy (Orphanet:166), X-linked Charcot-Marie-Tooth disease (Orphanet:64747), Fabry disease (Orphanet:324), X-linked Charcot-Marie-Tooth disease type 1 (Orphanet:101075), OBSOLETE: Hereditary motor and sensory neuropathy (Orphanet:140450)

HPO phenotypes

1 total (1 of 1 shown, HPO-id order):

HPO	Term
HP:0000717	Autism

GWAS associations

0 associations (top):

MeSH disease descriptors (5)

Descriptor	Name	Tree numbers
D001321	Autistic Disorder	F03.625.164.113.500
D002607	Charcot-Marie-Tooth Disease	C10.500.300.200; C10.574.500.495.200; C10.668.829.800.300.200; C16.131.666.300.200; C16.320.400.375.200
D000795	Fabry Disease	C10.228.140.163.100.435.825.200; C10.228.140.300.275.374; C14.907.253.329.374; C16.320.322.124; C16.320.565.189.435.825.200; C16.320.565.398.641.803.300; C16.320.565.595.554.825.200; C18.452.132.100.435.825.200; C18.452.584.563.641.803.300; C18.452.648.189.435.825.200; C18.452.648.398.641.803.300; C18.452.648.595.554.825.200
D015417	Hereditary Sensory and Motor Neuropathy	C10.500.300; C10.574.500.495; C10.668.829.800.300; C16.131.666.300; C16.320.400.375
C564446	Charcot-Marie-Tooth Peroneal Muscular Atrophy and Friedreich Ataxia, Combined (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

20 total (human), top 20 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	affects cotreatment, increases methylation, increases expression	2
(+)-JQ1 compound	increases expression, decreases expression	2
aristolochic acid I	increases expression	1
vanadyl sulfate	increases expression	1
CGP 52608	affects binding, increases reaction	1
2-palmitoylglycerol	increases expression	1
incobotulinumtoxinA	decreases expression	1
Sunitinib	decreases expression	1
Fulvestrant	increases methylation, affects cotreatment	1
Benzo(a)pyrene	affects methylation, decreases methylation	1
Cadmium	decreases expression, increases abundance	1
Cocaine	affects expression	1
Doxorubicin	decreases expression	1
Urethane	increases expression	1
Zinc	decreases expression	1
Isotretinoin	decreases expression	1
Cadmium Chloride	decreases expression, increases abundance	1
Okadaic Acid	increases expression	1
Acrylamide	decreases expression	1
S-Nitrosoglutathione	decreases expression	1

Clinical trials (associated diseases)

286 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT00074984	PHASE4	COMPLETED	A Study of the Safety and Efficacy of Fabrazyme (Agalsidase Beta) as Compared to Placebo in Patients With Advanced Fabry Disease
NCT00081497	PHASE4	COMPLETED	A Study of the Safety and Efficacy of Fabrazyme in Patients With Fabry Disease
NCT00097890	PHASE4	COMPLETED	Replagal Enzyme Replacement Therapy for Adults With Fabry Disease
NCT00140621	PHASE4	COMPLETED	A Safety and Efficacy Study of Fabrazyme® Replacement Therapy in Patients With Cardiac Fabry Disease
NCT00230607	PHASE4	TERMINATED	Study of the Effects of Fabrazyme Treatment on Lactation and Infants
NCT00312767	PHASE4	WITHDRAWN	A Study in Patients With Fabry Disease Who Are on Chronic Hemodialysis Therapy for Treatment of End-stage Renal Insufficiency.
NCT00487630	PHASE4	UNKNOWN	Evaluation of Efficacy and Safety of Agalsidase Beta in Heterozygous Females for Fabry Disease
NCT01650779	PHASE4	COMPLETED	A Study Evaluating Glycosphingolipid Clearance in Patients Treated With Agalsidase Alfa Who Switch to Agalsidase Beta
NCT01997489	PHASE4	COMPLETED	Ophthalmic Findings During 10-year Enzyme Substitution of Danish Fabry Patients.
NCT04143958	PHASE4	WITHDRAWN	To Assess the Glycosphingolipid Clearance and Clinical Effects of Switching to Agalsidase Beta (Fabrazyme) Versus Continuing on Agalsidase Alfa (Replagal) in Male Patients With Classic Fabry Disease
NCT05054387	PHASE4	COMPLETED	China Post-marketing Surveillance (PMS) Study of Fabrazyme®
NCT05067868	PHASE4	RECRUITING	A Study of Replagal in Children and Adults With Fabry Disease in India
NCT06019728	PHASE4	COMPLETED	A Prospective Study to Investigate Safety and Tolerability of Shorter Infusion of Fabrazyme
NCT04762758	PHASE3	UNKNOWN	Phase III Trial Assessing the Efficacy and Safety of PXT3003 in CMT1A Patients
NCT00074971	PHASE3	COMPLETED	A Study of the Safety and Efficacy of Fabrazyme in Patients With Fabry Disease
NCT00701415	PHASE3	COMPLETED	A Study of Two Fabrazyme (Agalsidase Beta) Dosing Regimens in Treatment-naïve, Male Pediatric Patients Without Severe Symptoms
NCT00864851	PHASE3	COMPLETED	Safety and Efficacy Study of Several Replagal Dosing Regimens on Cardiac Function in Adults With Fabry Disease
NCT00925301	PHASE3	COMPLETED	Study of the Effects of Oral AT1001 (Migalastat Hydrochloride) in Patients With Fabry Disease
NCT01124643	PHASE3	COMPLETED	Extension Study of TKT028 Evaluating Safety and Clinical Outcomes of Replagal® in Adult Patients With Fabry Disease
NCT01218659	PHASE3	COMPLETED	Study to Compare the Efficacy and Safety of Oral AT1001 and Enzyme Replacement Therapy in Patients With Fabry Disease
NCT01298141	PHASE3	COMPLETED	A Multicenter Open-Label Treatment Protocol to Observe the Safety of Replagal (Agalsidase Alfa) Enzyme Replacement Therapy in Canadian Patients With Fabry Disease
NCT01458119	PHASE3	TERMINATED	Open-Label Phase 3 Long-Term Safety Study of Migalastat
NCT02194985	PHASE3	COMPLETED	Open-Label Extension Study of the Long-Term Effects of Migalastat HCL in Patients With Fabry Disease
NCT02795676	PHASE3	COMPLETED	Study of the Safety and Efficacy of PRX-102 Compared to Agalsidase Beta on Renal Function
NCT02921620	PHASE3	WITHDRAWN	Study to Evaluate the Safety and EffIcacy of PRX-102 on Gastrointestinal Symptoms in Naïve Fabry Disease
NCT03018730	PHASE3	COMPLETED	Safety and Efficacy of PRX-102 in Patients With Fabry Disease Currently Treated With REPLAGAL® (Agalsidase Alfa)
NCT03180840	PHASE3	COMPLETED	Safety, Efficacy, & PK of PRX-102 in Patients With Fabry Disease Administered Intravenously Every 4 Weeks
NCT03425539	PHASE3	COMPLETED	Efficacy and Safety of Lucerastat Oral Monotherapy in Adult Subjects With Fabry Disease
NCT03500094	PHASE3	COMPLETED	Safety, Pharmacokinetics, Pharmacodynamics, and Efficacy of Migalastat in Pediatric Subjects (Aged 12 to <18 Years)
NCT03566017	PHASE3	COMPLETED	Open Label Extension Study of 1 mg/kg Pegunigalsidase Alfa Every 2 Weeks in Patients With Fabry Disease
NCT03614234	PHASE3	COMPLETED	Open Label Extension of 2 mg/kg Pegunigalsidase Alfa (PRX-102) Every 4 Weeks in Adult Fabry Disease Patients
NCT03737214	PHASE3	ACTIVE_NOT_RECRUITING	A Study to Evaluate the Long-term Safety and Tolerability of Lucerastat in Adult Subjects With Fabry Disease
NCT04020055	PHASE3	ACTIVE_NOT_RECRUITING	A Study to Evaluate Migalastat in Fabry Subjects With Amenable GLA Variant and Renal Disease
NCT04049760	PHASE3	COMPLETED	Safety, Pharmacodynamics, and Efficacy of Migalastat in Pediatric Subjects (Aged >12 Years) With Fabry Disease
NCT04840667	PHASE3	TERMINATED	A Study of Replagal in Treatment-naïve Adults With Fabry Disease
NCT04974749	PHASE3	COMPLETED	A Study of REPLAGAL® in Treatment-naive Chinese Participants With Fabry Disease
NCT05206773	PHASE3	ACTIVE_NOT_RECRUITING	A Study to Evaluate the Effect of Venglustat Tablets on Neuropathic and Abdominal Pain in Male and Female Participants ≥16 Years of Age With Fabry Disease
NCT05280548	PHASE3	ACTIVE_NOT_RECRUITING	A Study to Evaluate the Effect of Venglustat Tablets on Left Ventricular Mass Index in Male and Female Adult Participants With Fabry Disease
NCT05843916	PHASE3	COMPLETED	Switch Over Study of Biosimilar Agalsidase Beta for Fabry Disease
NCT06081062	PHASE3	RECRUITING	Evaluate the Safety and Efficacy of Fabagal® (Agalsidase Beta) in Patients With Fabry Disease