AXDND1

Summary

AXDND1 (axonemal dynein light chain domain containing 1, HGNC:26564) is a protein-coding gene on chromosome 1q25.2, encoding Axonemal dynein light chain domain-containing protein 1 (Q5T1B0). May be essential for spermiogenesis and male fertility probably by regulating the manchette dynamics, spermatid head shaping and sperm flagellum assembly.

Predicted to be involved in manchette assembly. Located in ciliary basal body and cytosol.

Source: NCBI Gene 126859 — RefSeq curated summary.

At a glance

• GWAS associations: 8
• Clinical variants (ClinVar): 345 total — 6 pathogenic, 25 likely-pathogenic
• MANE Select transcript: NM_144696

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26564
Approved symbol	AXDND1
Name	axonemal dynein light chain domain containing 1
Location	1q25.2
Locus type	gene with protein product
Status	Approved
Aliases	FLJ32940
Ensembl gene	ENSG00000162779
Ensembl biotype	protein_coding
Entrez	126859

Gene structure

Transcript identifiers

Ensembl transcripts: 14 — 6 protein_coding, 5 protein_coding_CDS_not_defined, 2 retained_intron, 1 nonsense_mediated_decay

ENST00000367618, ENST00000434088, ENST00000461179, ENST00000484455, ENST00000484883, ENST00000489080, ENST00000507383, ENST00000508229, ENST00000508285, ENST00000509175, ENST00000510593, ENST00000511157, ENST00000511889, ENST00000617277

RefSeq mRNA: 1 — MANE Select: NM_144696 NM_144696

CCDS: CCDS30948

Canonical transcript exons

ENST00000367618 — 26 exons

Exon	Start	End
ENSE00003476140	179491538	179491737
ENSE00003476803	179385238	179385359
ENSE00003485131	179492855	179492951
ENSE00003506263	179411146	179411266
ENSE00003512542	179444970	179445204
ENSE00003517081	179483128	179483221
ENSE00003519627	179468443	179468641
ENSE00003520738	179395098	179395202
ENSE00003523403	179432267	179432342
ENSE00003530186	179534730	179534962
ENSE00003535077	179554512	179554735
ENSE00003555979	179533795	179533877
ENSE00003556293	179383442	179383544
ENSE00003556984	179369975	179370078
ENSE00003571801	179528327	179528431
ENSE00003597150	179509296	179509403
ENSE00003606730	179382700	179382756
ENSE00003614599	179393903	179394043
ENSE00003621534	179525334	179525447
ENSE00003643127	179430452	179430606
ENSE00003676143	179429518	179429619
ENSE00003731355	179366404	179366606
ENSE00003740424	179368800	179368972
ENSE00003785253	179379397	179379482
ENSE00003789261	179378637	179378757
ENSE00003845147	179365971	179366000

Expression profiles

Bgee: expression breadth ubiquitous, 161 present calls, max score 97.57.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.1603 / max 8.2348, expressed in 69 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
6911	0.1104	50
6910	0.0498	13

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sperm	CL:0000019	97.57	gold quality
left testis	UBERON:0004533	91.76	gold quality
right testis	UBERON:0004534	91.74	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	90.19	gold quality
testis	UBERON:0000473	89.46	gold quality
mucosa of transverse colon	UBERON:0004991	81.65	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	78.82	gold quality
duodenum	UBERON:0002114	77.23	gold quality
mucosa of stomach	UBERON:0001199	77.03	gold quality
gall bladder	UBERON:0002110	73.74	gold quality
transverse colon	UBERON:0001157	71.78	gold quality
right uterine tube	UBERON:0001302	70.99	gold quality
right adrenal gland cortex	UBERON:0035827	70.16	gold quality
right adrenal gland	UBERON:0001233	68.33	gold quality
colonic mucosa	UBERON:0000317	67.66	gold quality
body of stomach	UBERON:0001161	67.53	gold quality
jejunal mucosa	UBERON:0000399	67.36	gold quality
adult mammalian kidney	UBERON:0000082	67.18	gold quality
rectum	UBERON:0001052	66.40	gold quality
adrenal tissue	UBERON:0018303	65.45	gold quality
left adrenal gland	UBERON:0001234	64.77	gold quality
mucosa of sigmoid colon	UBERON:0004993	64.52	gold quality
stomach	UBERON:0000945	64.12	gold quality
left adrenal gland cortex	UBERON:0035825	64.11	gold quality
adrenal cortex	UBERON:0001235	63.63	gold quality
adrenal gland	UBERON:0002369	63.40	gold quality
metanephros cortex	UBERON:0010533	63.26	gold quality
bronchial epithelial cell	CL:0002328	62.82	silver quality
adult organism	UBERON:0007023	62.53	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	62.21	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.01

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

19 targeting AXDND1, 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-25-3P	99.98	74.60	1817
HSA-MIR-32-5P	99.98	75.21	1964
HSA-MIR-363-3P	99.98	74.72	1821
HSA-MIR-367-3P	99.98	74.83	1819
HSA-MIR-92A-3P	99.98	75.21	1960
HSA-MIR-92B-3P	99.98	75.25	1955
HSA-MIR-10393-5P	99.65	68.01	1368
HSA-MIR-6716-5P	99.56	68.62	1244
HSA-MIR-888-3P	99.53	69.77	1057
HSA-MIR-4708-3P	99.51	67.99	870
HSA-MIR-532-3P	99.34	65.76	1195
HSA-MIR-6719-3P	99.29	67.78	1387
HSA-MIR-181A-2-3P	98.91	67.60	1168
HSA-MIR-4742-5P	98.89	68.41	1542
HSA-MIR-3145-3P	98.85	69.07	2031
HSA-MIR-4670-3P	97.37	68.35	1378
HSA-MIR-10398-5P	97.12	64.94	1051
HSA-MIR-588	96.45	68.36	1127
HSA-MIR-4701-5P	96.45	68.41	1121

Literature-anchored findings (GeneRIF, showing 1)

• AXDND1 is required to balance spermatogonial commitment and for sperm tail formation in mice and humans. (PMID:38997255)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	axdnd1	ENSDARG00000062355
mus_musculus	Axdnd1	ENSMUSG00000026601
rattus_norvegicus	Axdnd1	ENSRNOG00000051405

Protein

Protein identifiers

Axonemal dynein light chain domain-containing protein 1 — Q5T1B0 (reviewed: Q5T1B0)

All UniProt accessions (6): Q5T1B0, A6H900, B1AM31, D6R9B7, D6RDY4, D6REE1

UniProt curated annotations — full annotation on UniProt →

Function. May be essential for spermiogenesis and male fertility probably by regulating the manchette dynamics, spermatid head shaping and sperm flagellum assembly.

Subcellular location. Cytoplasm.

Tissue specificity. Highly expressed in testis. Highly expressed in the round and late spermatids.

Disease relevance. Defects in this gene may be a cause of male infertility.

Isoforms (3)

UniProt ID	Names	Canonical?
Q5T1B0-1	1	yes
Q5T1B0-2	2
Q5T1B0-3	3

RefSeq proteins (1): NP_653297* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR019347	Axonemal_dynein_light_chain	Family
IPR052845	Axonemal_dynein_LC_domain	Family

Pfam: PF10211

UniProt features (31 total): sequence variant 13, splice variant 6, compositionally biased region 5, region of interest 3, coiled-coil region 3, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5T1B0-F1	70.90	0.19

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 83 (showing top): GOBP_SINGLE_FERTILIZATION, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_EPITHELIAL_CELL_DEVELOPMENT, GOBP_VESICLE_ORGANIZATION, GOBP_SERTOLI_CELL_DEVELOPMENT, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_MALE_GAMETE_GENERATION, AAAYRNCTG_UNKNOWN, GOBP_LEUKOCYTE_MIGRATION, GOBP_REPRODUCTIVE_SYSTEM_DEVELOPMENT, GOBP_CILIUM_ORGANIZATION, GOBP_ORGANELLE_ASSEMBLY, GOBP_CELLULAR_PROCESS_INVOLVED_IN_REPRODUCTION_IN_MULTICELLULAR_ORGANISM, GOBP_MICROTUBULE_BUNDLE_FORMATION, GOBP_SEX_DIFFERENTIATION

GO Biological Process (3): spermatogenesis (GO:0007283), manchette assembly (GO:1905198), cell differentiation (GO:0030154)

GO Molecular Function (0):

GO Cellular Component (4): cytoplasm (GO:0005737), cytosol (GO:0005829), cilium (GO:0005929), ciliary basal body (GO:0036064)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
developmental process involved in reproduction	1
male gamete generation	1
spermatid development	1
cellular component assembly	1
cellular developmental process	1
intracellular anatomical structure	1
cytoplasm	1
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1
microtubule organizing center	1
cilium	1

Protein interactions and networks

STRING

244 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
AXDND1	CXorf58	Q96LI9	694
AXDND1	C19orf81	C9J6K1	583
AXDND1	CFAP97D1	B2RV13	543
AXDND1	PRR30	Q53SZ7	518
AXDND1	KIF27	Q86VH2	485
AXDND1	UMODL1	Q5DID0	484
AXDND1	BCAS3	Q9H6U6	460
AXDND1	ARL14	Q8N4G2	435
AXDND1	EPS8L3	Q8TE67	428
AXDND1	GAREM1	Q9H706	397
AXDND1	CIMIP1	Q9H1P6	392
AXDND1	NT5C1B	Q96P26	388
AXDND1	FEM1A	Q9BSK4	387
AXDND1	TTLL9	Q3SXZ7	370
AXDND1	CFAP46	Q8IYW2	370

IntAct

6 interactions, top by confidence:

A	B	Type	Score
AXDND1	PLEC	psi-mi:“MI:0915”(physical association)	0.400
AXDND1	ZFR	psi-mi:“MI:0915”(physical association)	0.400
SYNE1	AXDND1	psi-mi:“MI:0915”(physical association)	0.400
AXDND1	SRP68	psi-mi:“MI:0915”(physical association)	0.400
AXDND1	SRP72	psi-mi:“MI:0914”(association)	0.350

BioGRID (13): SRP68 (Affinity Capture-MS), AXDND1 (Synthetic Lethality), AXDND1 (Proximity Label-MS), SYNE1 (Proximity Label-MS), ZFR (Proximity Label-MS), SLC39A5 (Affinity Capture-MS), SLC32A1 (Affinity Capture-MS), PIGT (Affinity Capture-MS), UNC5CL (Affinity Capture-MS), SRP72 (Affinity Capture-MS), SRP68 (Affinity Capture-MS), EEA1 (Cross-Linking-MS (XL-MS)), PCF11 (Cross-Linking-MS (XL-MS))

ESM2 similar proteins: A0A1B0GVH7, A6PVS8, A8DZJ1, A9Q751, D3ZSP7, D4AEC2, Q08AD1, Q08CX2, Q14DL3, Q2T9P0, Q2TA00, Q32KQ1, Q3UZ57, Q3V0J4, Q4G0U5, Q4R7B1, Q4R7Z7, Q5S003, Q5SUV2, Q5T1B0, Q5ZLS8, Q63164, Q66HC0, Q69CM7, Q6AXP3, Q6AYL8, Q6IRN6, Q6NXP0, Q6Q759, Q80X60, Q86WZ0, Q8C1B1, Q8C4J0, Q8C636, Q8CDN1, Q8CDU5, Q8IWF9, Q8N7B9, Q8N7U6, Q8ND61

Diamond homologs: Q3UZ57, Q5T1B0, Q95LP5

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	6
Likely pathogenic	25
Uncertain significance	184
Likely benign	82
Benign	12

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
3247987	NC_000001.10:g.(?179520308)(179544999_?)del	Pathogenic
3349861	NM_014625.4(NPHS2):c.824dup (p.His276fs)	Pathogenic
447882	NM_014625.4(NPHS2):c.779T>A (p.Val260Glu)	Pathogenic
555445	NM_014625.4(NPHS2):c.873+1G>A	Pathogenic
635511	NM_014625.4(NPHS2):c.929A>T (p.Glu310Val)	Pathogenic
801581	NM_014625.4(NPHS2):c.981del (p.Gln328fs)	Pathogenic
1344831	NM_014625.4(NPHS2):c.742G>A (p.Ala248Thr)	Likely pathogenic
1344835	NM_014625.4(NPHS2):c.1120A>T (p.Asn374Tyr)	Likely pathogenic
1344840	NM_014625.4(NPHS2):c.910_918del (p.Ser304_Arg306del)	Likely pathogenic
1344843	NM_014625.4(NPHS2):c.1059_1060del (p.Ser354fs)	Likely pathogenic
1346981	NM_014625.4(NPHS2):c.929A>G (p.Glu310Gly)	Likely pathogenic
224482	NM_014625.4(NPHS2):c.812C>T (p.Pro271Leu)	Likely pathogenic
2677342	NM_014625.4(NPHS2):c.795-2A>C	Likely pathogenic
2677343	NM_014625.4(NPHS2):c.969C>A (p.Tyr323Ter)	Likely pathogenic
2677348	NM_014625.4(NPHS2):c.896del (p.Lys299fs)	Likely pathogenic
2677349	NM_014625.4(NPHS2):c.1049del (p.Leu350fs)	Likely pathogenic
2883744	NM_014625.4(NPHS2):c.865A>G (p.Lys289Glu)	Likely pathogenic
3236169	NM_144696.6(AXDND1):c.937C>T (p.Arg313Ter)	Likely pathogenic
3239975	NM_014625.4(NPHS2):c.853C>T (p.Gln285Ter)	Likely pathogenic
3574188	NM_014625.4(NPHS2):c.1133_1136del (p.Lys378fs)	Likely pathogenic
3574218	NM_014625.4(NPHS2):c.964C>G (p.Arg322Gly)	Likely pathogenic
3574247	NM_014625.4(NPHS2):c.874-1G>C	Likely pathogenic
370486	NM_014625.4(NPHS2):c.795-1G>A	Likely pathogenic
370964	NM_014625.4(NPHS2):c.1062dup (p.Asn355fs)	Likely pathogenic
447884	NM_014625.4(NPHS2):c.951del (p.Ala318fs)	Likely pathogenic
4815735	NM_014625.4(NPHS2):c.830_833del (p.Ser277fs)	Likely pathogenic
4815736	NM_014625.4(NPHS2):c.841G>A (p.Glu281Lys)	Likely pathogenic
556375	NM_014625.4(NPHS2):c.979C>T (p.Leu327Phe)	Likely pathogenic
635471	NM_014625.4(NPHS2):c.823dup (p.Gln275fs)	Likely pathogenic
974486	NM_014625.4(NPHS2):c.953_955del (p.Ala318del)	Likely pathogenic

SpliceAI

5194 predictions. Top by Δscore:

Variant	Effect	Δscore
1:179370076:A:T	donor_gain	1.0000
1:179370088:G:GT	donor_gain	1.0000
1:179379395:A:G	acceptor_gain	1.0000
1:179385232:T:TA	acceptor_gain	1.0000
1:179385233:GACA:G	acceptor_loss	1.0000
1:179385235:CAG:C	acceptor_loss	1.0000
1:179385236:A:AG	acceptor_gain	1.0000
1:179385236:A:G	acceptor_loss	1.0000
1:179385236:AGAT:A	acceptor_gain	1.0000
1:179385237:G:GT	acceptor_gain	1.0000
1:179385237:GA:G	acceptor_gain	1.0000
1:179385237:GAT:G	acceptor_gain	1.0000
1:179385237:GATG:G	acceptor_gain	1.0000
1:179385237:GATGC:G	acceptor_gain	1.0000
1:179385355:GTCAG:G	donor_gain	1.0000
1:179385357:CAGGT:C	donor_loss	1.0000
1:179385358:AGGTT:A	donor_loss	1.0000
1:179385359:GG:G	donor_loss	1.0000
1:179385360:GTTA:G	donor_loss	1.0000
1:179395091:A:AG	acceptor_gain	1.0000
1:179395094:TCA:T	acceptor_loss	1.0000
1:179395095:CA:C	acceptor_loss	1.0000
1:179395096:A:AG	acceptor_gain	1.0000
1:179395096:AG:A	acceptor_gain	1.0000
1:179395096:AGG:A	acceptor_gain	1.0000
1:179395097:G:A	acceptor_gain	1.0000
1:179395097:G:GG	acceptor_gain	1.0000
1:179395097:GGG:G	acceptor_gain	1.0000
1:179395097:GGGA:G	acceptor_gain	1.0000
1:179395097:GGGAA:G	acceptor_gain	1.0000

AlphaMissense

6741 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:179430494:T:A	W459R	0.996
1:179430494:T:C	W459R	0.996
1:179445060:T:A	W552R	0.993
1:179445060:T:C	W552R	0.993
1:179509311:T:A	W802R	0.993
1:179509311:T:C	W802R	0.993
1:179429575:T:A	W430R	0.991
1:179429575:T:C	W430R	0.991
1:179411234:T:A	W400R	0.990
1:179411234:T:C	W400R	0.990
1:179491568:T:A	W708R	0.990
1:179491568:T:C	W708R	0.990
1:179445091:G:C	R562P	0.987
1:179394037:T:C	L333P	0.986
1:179483165:T:A	W679R	0.985
1:179483165:T:C	W679R	0.985
1:179534755:G:C	A942P	0.984
1:179379433:T:C	F178L	0.982
1:179379435:T:A	F178L	0.982
1:179379435:T:G	F178L	0.982
1:179430496:G:C	W459C	0.980
1:179430496:G:T	W459C	0.980
1:179370005:T:A	W101R	0.979
1:179370005:T:C	W101R	0.979
1:179385302:T:C	L269P	0.979
1:179378647:T:C	F129L	0.978
1:179378649:T:A	F129L	0.978
1:179378649:T:G	F129L	0.978
1:179430452:G:C	D445H	0.977
1:179385308:G:C	R271P	0.976

dbSNP variants (sampled 300 via entrez): RS1000033832 (1:179516670 C>A), RS1000037575 (1:179449647 G>A), RS1000050223 (1:179472761 T>C), RS1000064232 (1:179552867 A>G), RS1000066916 (1:179467544 A>G), RS1000074676 (1:179407042 A>G), RS1000089827 (1:179390788 T>A,C), RS1000127100 (1:179365779 G>A,C,T), RS1000132721 (1:179514269 T>C), RS1000151658 (1:179533640 T>C), RS1000185449 (1:179513984 A>G), RS1000191951 (1:179466728 A>T), RS1000216669 (1:179441101 A>T), RS1000279199 (1:179516275 G>GT), RS1000297951 (1:179432397 A>G)

Disease associations

OMIM: gene `` | disease phenotypes: MIM:600995

GenCC curated gene-disease

Mondo (8): nephrotic syndrome, type 2 (MONDO:0010974), steroid-resistant nephrotic syndrome (MONDO:0044765), nephrotic syndrome (MONDO:0005377), focal segmental glomerulosclerosis (MONDO:0100313), proteinuria (MONDO:0003634), male infertility (MONDO:0005372), idiopathic nephrotic syndrome (MONDO:0018170), kidney disorder (MONDO:0005240)

Orphanet (2): Hereditary steroid-resistant nephrotic syndrome (Orphanet:656), Idiopathic nephrotic syndrome (Orphanet:357502)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

8 associations (top):

Study	Trait	p-value
GCST000267_8	Multiple sclerosis (age of onset)	6.000000e-06
GCST007565_141	Morning person	7.000000e-14
GCST007576_14	Chronotype	7.000000e-14
GCST008161_104	Waist circumference adjusted for body mass index	8.000000e-06
GCST008839_591	Height	7.000000e-12
GCST009524_178	Household income (MTAG)	1.000000e-08
GCST009863_2	Insulin-related traits (multivariate analysis)	3.000000e-10
GCST009959_16	Retinal detachment or retinal break	5.000000e-06

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0004847	age at onset
EFO:0008328	chronotype measurement
EFO:0007789	BMI-adjusted waist circumference
EFO:0009695	household income
EFO:0004467	insulin measurement
EFO:0010698	retinal break

MeSH disease descriptors (5)

Descriptor	Name	Tree numbers
D005923	Glomerulosclerosis, Focal Segmental	C12.050.351.968.419.570.363.640; C12.200.777.419.570.363.660; C12.950.419.570.363.640
D007248	Infertility, Male	C12.100.500.430; C12.100.750.700; C12.200.294.430
D007674	Kidney Diseases	C12.050.351.968.419; C12.200.777.419; C12.950.419
D009404	Nephrotic Syndrome	C12.050.351.968.419.630.643; C12.200.777.419.630.643; C12.950.419.630.643
D011507	Proteinuria	C12.050.351.968.934.734; C12.200.777.934.734; C12.950.934.734; C23.888.942.750

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

9 total (human), top 9 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, increases methylation	2
aristolochic acid I	increases expression	1
sodium arsenite	increases expression	1
aflatoxin B2	increases methylation	1
Calcitriol	decreases expression	1
N-Nitrosopyrrolidine	decreases expression	1
Nickel	decreases expression	1
Phthalic Acids	increases methylation	1
Tobacco Smoke Pollution	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT03408405	PHASE4	WITHDRAWN	ACTHAR Gel for Drug REsistant Nephrotic Syndrome in Children
NCT00308321	PHASE4	UNKNOWN	Long Term Tapering or Standard Steroids for Nephrotic Syndrome
NCT01021540	PHASE4	COMPLETED	Prospective Study Evaluating the Effect of Repository Corticotropin in the Treatment of Various Nephrotic Syndromes
NCT01028287	PHASE4	COMPLETED	Adrenocorticotropic Hormone (ACTH) Treatment of Nephrotic Range Proteinuria in Diabetic Nephropathy (NRDN)
NCT01162005	PHASE4	COMPLETED	Therapeutic Effect of Tacrolimus on Primary Nephrotic Syndrome in Children
NCT01895894	PHASE4	COMPLETED	Mycophenolate Mofetil in Pediatric Steroid Dependent Nephrotic Syndrome
NCT02238418	PHASE4	COMPLETED	Efficacy of Usual Vitamin D Supplementation and Its Impact on Children and Adolescents Calciuria.
NCT02382575	PHASE4	UNKNOWN	Efficacy and Safety of Rituximab to That of Calcineurin Inhibitors in Children With Steroid Resistant Nephrotic Syndrome
NCT02427880	PHASE4	COMPLETED	Role of Acetazolamide and Hydrochlorothiazide Followed by Furosemide in Treating Nephrotic Edema
NCT03210688	PHASE4	COMPLETED	Active Vitamin D And Reduced Dose Prednisolone for Treatment in Minimal Change Nephropathy
NCT03347357	PHASE4	COMPLETED	Pharmacokinetics of Tacrolimus in Children
NCT05696977	PHASE4	UNKNOWN	Effect of Obesity on Cyclosporine Blood Trough Level in Nephrotic Syndrome Patients
NCT05966818	PHASE4	UNKNOWN	Effect of Dapagliflozin in Non-Diabetic Patients With Nephrotic Syndrome.
NCT06026787	PHASE4	COMPLETED	Clinical Value of Adding Dapagliflozin in Patients With Nephrotic Syndrome
NCT00354731	PHASE3	COMPLETED	Efficacy of Pentoxifylline on Primary Nephrotic Syndrome
NCT00615667	PHASE3	COMPLETED	Prospective, Multicenter Study of the Efficacy and Tolerance of Tacrolimus on Refractory Nephrotic Syndrome (RNS)
NCT00981838	PHASE3	COMPLETED	Rituximab in Multirelapsing Minimal Change Disease (MCD) or Focal Segmental Glomerulosclerosis (FSGS)
NCT01197040	PHASE3	COMPLETED	Evaluation of Low Dose Corticosteroids Efficiency, Associated With Myfortic ® in the Treatment of Nephrotic Syndrome
NCT01309477	PHASE3	COMPLETED	The Efficacy and Tolerance of Tacrolimus Sustained-release Capsules on Refractory Nephrotic Syndrome (RNS)
NCT02132195	PHASE3	COMPLETED	Adrenocorticotropic Hormone (ACTH) for Frequently Relapsing and Steroid Dependent Nephrotic Syndrome
NCT02257697	PHASE3	COMPLETED	A Study to Evaluate the Efficacy and Safety of Mizoribine in the Treatment of Refractory Nephrotic Syndrome
NCT02438982	PHASE3	COMPLETED	Efficacy and Safety of Rituximab to That of Calcineurin Inhibitors in Children With Steroid Dependent Nephrotic Syndrome
NCT03141970	PHASE3	COMPLETED	Prednisolone Trial in Children Younger Than 4 Years
NCT03501459	PHASE3	UNKNOWN	Lymphocyte Markers As Predictors Of Responsiveness To Rituximab Among Patients With Idiopathic Nephrotic Syndrome
NCT05079789	PHASE3	TERMINATED	Amiloride in Nephrotic Syndrome
NCT05716880	PHASE3	RECRUITING	Ketoanalogues for Muscle Mass Loss in Nephrotic Syndrome
NCT06635720	PHASE3	ACTIVE_NOT_RECRUITING	REduced-dose Steroid PrOtocol for Childhood Nephrotic SyndromE (RESPONSE)
NCT00001212	PHASE2	COMPLETED	Drug Therapy in Lupus Nephropathy
NCT00001959	PHASE2	COMPLETED	Pirfenidone to Treat Kidney Disease (Focal Segmental Glomerulosclerosis)
NCT00004466	PHASE2	TERMINATED	Pilot Study of Atorvastatin in Children With Chronic Hyperlipidemia Secondary to Nephrotic Syndrome
NCT00004990	PHASE2	COMPLETED	Once-A-Month Steroid Treatment for Patients With Focal Segmental Glomerulosclerosis
NCT00977977	PHASE2	RECRUITING	Rituximab Plus Cyclosporine in Idiopathic Membranous Nephropathy
NCT02394106	PHASE2	TERMINATED	Ofatumumab in Children With Drug Resistant Idiopathic Nephrotic Syndrome
NCT02394119	PHASE2	COMPLETED	Ofatumumab Versus Rituximab in Children With Steroid and Calcineurin Inhibitor Dependent Idiopathic Nephrotic Syndrome
NCT02592798	PHASE2	COMPLETED	Pilot Study to Evaluate the Safety and Efficacy of Abatacept in Adults and Children 6 Years and Older With Excessive Loss of Protein in the Urine Due to Either Focal Segmental Glomerulosclerosis (FSGS) or Minimal Change Disease (MCD)
NCT02966717	PHASE2	UNKNOWN	Rituximab Combined With MSCs in the Treatment of PNS (3-4 Stage of CKD)
NCT03004001	PHASE2	TERMINATED	Effect of PCSK9-Antibody (Alirocumab) on Dyslipidemia Secondary to Nephrotic Syndrome
NCT03949855	PHASE2	RECRUITING	Belimumab With Rituximab for Primary Membranous Nephropathy
NCT05599815	PHASE2	WITHDRAWN	Part 1 - A Clinical Trial in Patients With Frequently Relapsing and Steroid-Dependent Nephrotic Syndrome
NCT05704400	PHASE2	UNKNOWN	Efficacy of Anti-CD20 Ab Associated With Anti-CD38 in the Childhood Multidrug Dependent and Resistant Nephrotic Syndrome