DRC9

Summary

DRC9 (dynein regulatory complex subunit 9, HGNC:25251) is a protein-coding gene on chromosome 3q29, encoding Dynein regulatory complex protein 9 (Q9H095). Component of the nexin-dynein regulatory complex (N-DRC), a key regulator of ciliary/flagellar motility which maintains the alignment and integrity of the distal axoneme and regulates microtubule sliding in motile axonemes.

Enables Hsp70 protein binding activity and calmodulin binding activity. Predicted to be involved in sperm axoneme assembly. Located in actin cytoskeleton and cytosol.

Source: NCBI Gene 84223 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 207 total — 12 pathogenic, 6 likely-pathogenic
• MANE Select transcript: NM_032263

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25251
Approved symbol	DRC9
Name	dynein regulatory complex subunit 9
Location	3q29
Locus type	gene with protein product
Status	Approved
Aliases	DKFZp434B227, DRC9, CFAP122
Ensembl gene	ENSG00000114473
Ensembl biotype	protein_coding
OMIM	612477
Entrez	84223

Gene structure

Transcript identifiers

Ensembl transcripts: 24 — 16 protein_coding, 5 protein_coding_CDS_not_defined, 3 retained_intron

ENST00000265239, ENST00000416896, ENST00000452735, ENST00000453254, ENST00000455191, ENST00000463651, ENST00000469822, ENST00000473225, ENST00000478903, ENST00000480302, ENST00000485787, ENST00000490748, ENST00000493624, ENST00000860775, ENST00000860776, ENST00000860777, ENST00000935512, ENST00000960925, ENST00000960926, ENST00000960927, ENST00000960928, ENST00000960929, ENST00000960930, ENST00000960931

RefSeq mRNA: 6 — MANE Select: NM_032263 NM_001134435, NM_001323027, NM_001323028, NM_001323029, NM_001323030, NM_032263

CCDS: CCDS3331, CCDS82898

Canonical transcript exons

ENST00000265239 — 12 exons

Exon	Start	End
ENSE00001126166	197938548	197938780
ENSE00001357300	197959529	197959719
ENSE00001777867	197889077	197889714
ENSE00001935689	197959845	197959991
ENSE00003489565	197913881	197914042
ENSE00003519020	197932174	197932302
ENSE00003596141	197945620	197945686
ENSE00003623618	197926024	197926105
ENSE00003646118	197943778	197944051
ENSE00003658212	197892628	197892759
ENSE00003662136	197912675	197912749
ENSE00003681986	197891446	197891547

Expression profiles

Bgee: expression breadth ubiquitous, 224 present calls, max score 98.30.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.6148 / max 217.0966, expressed in 1665 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
46466	3.0223	1224
46468	2.4094	1112
46467	0.5107	244
46462	0.4248	112
46465	0.1721	71
46463	0.0409	22
46464	0.0345	16

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	98.30	gold quality
bronchial epithelial cell	CL:0002328	97.79	gold quality
epithelium of bronchus	UBERON:0002031	97.08	gold quality
bronchus	UBERON:0002185	96.41	gold quality
left testis	UBERON:0004533	96.12	gold quality
right testis	UBERON:0004534	95.85	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	95.39	gold quality
sperm	CL:0000019	94.55	gold quality
testis	UBERON:0000473	94.46	gold quality
left ovary	UBERON:0002119	94.15	gold quality
right ovary	UBERON:0002118	93.01	gold quality
mucosa of paranasal sinus	UBERON:0005030	92.43	gold quality
male germ cell	CL:0000015	92.32	gold quality
epithelium of nasopharynx	UBERON:0001951	92.18	gold quality
ovary	UBERON:0000992	92.03	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	88.17	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	87.69	gold quality
left adrenal gland cortex	UBERON:0035825	87.60	gold quality
left adrenal gland	UBERON:0001234	87.58	gold quality
nasal cavity epithelium	UBERON:0005384	87.23	gold quality
right adrenal gland	UBERON:0001233	86.59	gold quality
adrenal cortex	UBERON:0001235	86.38	gold quality
right adrenal gland cortex	UBERON:0035827	86.18	gold quality
adrenal gland	UBERON:0002369	86.13	gold quality
caudate nucleus	UBERON:0001873	85.85	gold quality
adenohypophysis	UBERON:0002196	85.24	gold quality
nucleus accumbens	UBERON:0001882	84.99	gold quality
cortical plate	UBERON:0005343	84.83	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	84.64	gold quality
calcaneal tendon	UBERON:0003701	84.46	gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 5.

Experiment	Marker?	Max mean expression
E-GEOD-130148	yes	11.94
E-CURD-114	yes	11.32
E-MTAB-7249	yes	11.09
E-ANND-3	yes	10.15
E-MTAB-9388	yes	7.08

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

30 targeting DRC9, 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-4692	100.00	67.32	2066
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-8063	99.91	69.76	3146
HSA-MIR-4496	99.88	68.89	2236
HSA-MIR-6739-5P	99.80	67.87	2806
HSA-MIR-6733-5P	99.74	67.94	2759
HSA-MIR-4530	99.69	66.47	1509
HSA-MIR-4729	99.69	72.18	4233
HSA-MIR-4261	99.59	70.30	3415
HSA-MIR-3153	99.55	67.59	2337
HSA-MIR-5009-3P	99.45	69.43	1341
HSA-MIR-147B-5P	99.45	70.62	2432
HSA-MIR-4251	99.40	69.19	3363
HSA-MIR-940	99.37	66.14	2064
HSA-MIR-6719-3P	99.29	67.78	1387
HSA-MIR-4292	99.16	65.57	1767
HSA-MIR-6791-5P	99.16	65.92	1844
HSA-MIR-6071	99.16	67.77	1780
HSA-MIR-4742-5P	98.89	68.41	1542
HSA-MIR-7977	98.65	66.18	2590
HSA-MIR-1178-3P	98.57	67.09	890
HSA-MIR-93-3P	98.15	66.65	1309
HSA-MIR-1279	97.83	67.50	1898
HSA-MIR-634	97.74	67.11	818
HSA-MIR-1224-3P	97.24	65.92	851
HSA-MIR-3184-3P	96.96	66.91	845
HSA-MIR-6823-5P	96.26	65.69	919
HSA-MIR-759	96.16	66.77	873
HSA-MIR-6826-5P	93.80	67.42	514

Literature-anchored findings (GeneRIF, showing 1)

• human NUP98-IQCG fusion protein could induce fatal and transplantable acute myelomonocytic leukemia in a mouse model (PMID:26675333)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	iqcg	ENSDARG00000068678
mus_musculus	Iqcg	ENSMUSG00000035578
rattus_norvegicus	Iqcg	ENSRNOG00000026420
drosophila_melanogaster	CG13972	FBGN0039522

Protein

Protein identifiers

Dynein regulatory complex protein 9 — Q9H095 (reviewed: Q9H095)

Alternative names: IQ domain-containing protein G

All UniProt accessions (4): C9J6M9, C9JKX8, C9JUC1, Q9H095

UniProt curated annotations — full annotation on UniProt →

Function. Component of the nexin-dynein regulatory complex (N-DRC), a key regulator of ciliary/flagellar motility which maintains the alignment and integrity of the distal axoneme and regulates microtubule sliding in motile axonemes. Binds calmodulin when cellular Ca(2+) levels are low and thereby contributes to the regulation of calcium and calmodulin-dependent protein kinase IV (CAMK4) activity; contributes to the regulation of CAMK4 signaling cascades. Required for normal axoneme assembly in sperm flagella, normal sperm tail formation and for male fertility.

Subunit / interactions. Component of the nexin-dynein regulatory complex (N-DRC). Interacts (via IQ domain) with CALM when calcium levels are low. Does not interact with CALM in the presence of Ca(2+). Interacts with the HSP70 proteins HSPA1L and HSPA8. May form a complex with CAMK4 and HSP70.

Subcellular location. Cytoplasm. Cell projection. Cilium. Flagellum. Cytoskeleton. Flagellum axoneme.

Domain organisation. The IQ domain mediates interaction with calmodulin when cellular Ca(2+) levels are low.

Similarity. Belongs to the DRC9 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9H095-1	1	yes
Q9H095-2	2

RefSeq proteins (6): NP_001127907, NP_001309956, NP_001309957, NP_001309958, NP_001309959, NP_115639* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000048	IQ_motif_EF-hand-BS	Binding_site
IPR042618	IQCG	Family

Pfam: PF00612

UniProt features (11 total): region of interest 2, compositionally biased region 2, chain 1, domain 1, helix 1, splice variant 1, sequence variant 1, mutagenesis site 1, sequence conflict 1

Structure

Experimental structures (PDB)

3 structures.

PDB	Method	Resolution (Å)
4LZX	X-RAY DIFFRACTION	1.5
4M1L	X-RAY DIFFRACTION	2.1
8J07	ELECTRON MICROSCOPY	4.1

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9H095-F1	72.42	0.44

Functional residue map

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

Mutagenesis-validated functional residues (1):

Position	Phenotype
401	loss of calmodulin binding.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 156 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_MCMV_INFECTION_DN, GAUSSMANN_MLL_AF4_FUSION_TARGETS_A_DN, GOBP_MALE_GAMETE_GENERATION, SENGUPTA_NASOPHARYNGEAL_CARCINOMA_DN, GOBP_CILIUM_ORGANIZATION, GOBP_CILIUM_MOVEMENT, GOBP_CILIUM_OR_FLAGELLUM_DEPENDENT_CELL_MOTILITY, NAKAMURA_LUNG_CANCER_DIFFERENTIATION_MARKERS, GOBP_ORGANELLE_ASSEMBLY, GOBP_CELLULAR_PROCESS_INVOLVED_IN_REPRODUCTION_IN_MULTICELLULAR_ORGANISM, GOBP_MICROTUBULE_BUNDLE_FORMATION, NAKAMURA_BRONCHIAL_AND_BRONCHIOLAR_EPITHELIA, BERTUCCI_MEDULLARY_VS_DUCTAL_BREAST_CANCER_UP, TGGNNNNNNKCCAR_UNKNOWN, GOBP_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION

GO Biological Process (5): spermatid development (GO:0007286), sperm axoneme assembly (GO:0007288), cilium organization (GO:0044782), spermatogenesis (GO:0007283), cell differentiation (GO:0030154)

GO Molecular Function (3): calmodulin binding (GO:0005516), Hsp70 protein binding (GO:0030544), protein binding (GO:0005515)

GO Cellular Component (10): manchette (GO:0002177), cytoplasm (GO:0005737), cytosol (GO:0005829), actin cytoskeleton (GO:0015629), motile cilium (GO:0031514), sperm flagellum (GO:0036126), extracellular exosome (GO:0070062), cytoskeleton (GO:0005856), cilium (GO:0005929), cell projection (GO:0042995)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
developmental process involved in reproduction	2
germ cell development	1
spermatid differentiation	1
axoneme assembly	1
sperm flagellum assembly	1
organelle organization	1
plasma membrane bounded cell projection organization	1
male gamete generation	1
cellular developmental process	1
protein binding	1
heat shock protein binding	1
protein-folding chaperone binding	1
binding	1
microtubule cytoskeleton	1
intracellular anatomical structure	1
cytoplasm	1
cytoskeleton	1
cilium	1
9+2 motile cilium	1
extracellular vesicle	1
intracellular membraneless organelle	1
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1

Protein interactions and networks

STRING

610 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DRC9	DRC5	Q5JU00	708
DRC9	DRC7	Q8IY82	706
DRC9	DRC3	Q9H069	607
DRC9	FBXL13	Q8NEE6	594
DRC9	CCDC83	Q8IWF9	549
DRC9	TTLL5	Q6EMB2	541
DRC9	DRC4	O95995	525
DRC9	SPATA6L	Q8N4H0	502
DRC9	DNAI3	Q8IWG1	490
DRC9	IQCF1	Q8N6M8	474
DRC9	MNS1	Q8NEH6	472
DRC9	SLC26A8	Q96RN1	468
DRC9	NUP98	P52948	457
DRC9	MAX	P25912	456
DRC9	CDADC1	Q9BWV3	446

IntAct

7 interactions, top by confidence:

A	B	Type	Score
	IQCG	psi-mi:“MI:0915”(physical association)	0.560
IQCG	HNRNPA1L2	psi-mi:“MI:0915”(physical association)	0.400
IQCG	GSK3B	psi-mi:“MI:0915”(physical association)	0.370
	IQCG	psi-mi:“MI:0915”(physical association)	0.000
IQCG	BAG6	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (11): IQCG (Proximity Label-MS), BAG6 (Two-hybrid), CALM2 (Two-hybrid), CALM3 (Two-hybrid), CALM1 (Two-hybrid), IQCG (Proximity Label-MS), IQCG (Affinity Capture-MS), IQCG (Proximity Label-MS), IQCG (Negative Genetic), IQCG (Affinity Capture-MS), IQCG (Two-hybrid)

ESM2 similar proteins: A0JMY4, A2AJB1, A2BDR7, A3KQH2, A8HQ54, A8J0N6, A8KB59, F1QRC1, F1RKB1, M1V4Y8, Q08C53, Q0VFN8, Q0VFX2, Q17QH9, Q28BZ7, Q28IH8, Q2T9V2, Q2TAA8, Q3SZX9, Q3USS3, Q3UZ57, Q4R6I5, Q4R8Y5, Q4V7B0, Q502W7, Q5M6W3, Q5PQQ6, Q5RA03, Q5T1B0, Q5XI65, Q5XIR6, Q5XIR8, Q5XJN6, Q6DHI2, Q6IQY5, Q7T0S7, Q80W32, Q8C5T8, Q8CDN8, Q8NHQ8

Diamond homologs: A3KQH2, Q2T9V2, Q5PQQ6, Q80W32, Q9GKR7, Q9H095, Q9D3V1

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
IQCG	“form complex”	“Nexin-dynein regulatory complex”	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	12
Likely pathogenic	6
Uncertain significance	90
Likely benign	58
Benign	11

Top pathogenic / likely-pathogenic (18)

Variant ID	HGVS	Classification
13001	NM_000996.4(RPL35A):c.97G>A (p.Val33Ile)	Pathogenic
13003	NM_000996.4(RPL35A):c.304C>T (p.Arg102Ter)	Pathogenic
2579209	GRCh38/hg38 3q29(chr3:197681032-198111976)x1	Pathogenic
2747077	NM_000996.4(RPL35A):c.147del (p.Ala48_Tyr49insTer)	Pathogenic
3062693	GRCh37/hg19 3q29(chr3:197583068-197851986)x1	Pathogenic
3246899	NC_000003.11:g.(?197401889)(197682644_?)del	Pathogenic
469500	NC_000003.12:g.(?197950962)(197955779_?)del	Pathogenic
537236	NM_000996.4(RPL35A):c.212G>A (p.Trp71Ter)	Pathogenic
583098	NM_000996.4(RPL35A):c.118_119del (p.Glu40fs)	Pathogenic
638098	GRCh37/hg19 3q28-29(chr3:188386566-197838262)x3	Pathogenic
647968	NC_000003.12:g.(?197950958)(197955783_?)del	Pathogenic
807674	NM_000996.4(RPL35A):c.258del (p.Lys87fs)	Pathogenic
1008059	NM_000996.4(RPL35A):c.89T>C (p.Ile30Thr)	Likely pathogenic
1777261	NM_000996.4(RPL35A):c.165-16_166del	Likely pathogenic
2423447	NC_000003.11:g.(?197680864)(197682644_?)del	Likely pathogenic
3765148	NM_032263.5(IQCG):c.-60+5377C>G	Likely pathogenic
4720762	NM_000996.4(RPL35A):c.140G>T (p.Cys47Phe)	Likely pathogenic
843293	NM_000996.4(RPL35A):c.164+1G>A	Likely pathogenic

SpliceAI

2571 predictions. Top by Δscore:

Variant	Effect	Δscore
3:197891543:CTTAT:C	acceptor_gain	1.0000
3:197891544:TTAT:T	acceptor_gain	1.0000
3:197891544:TTATC:T	acceptor_loss	1.0000
3:197891545:TATCT:T	acceptor_loss	1.0000
3:197891546:ATC:A	acceptor_loss	1.0000
3:197891548:C:CC	acceptor_gain	1.0000
3:197891548:CTGCA:C	acceptor_loss	1.0000
3:197892627:CCAT:C	donor_gain	1.0000
3:197892757:TTT:T	acceptor_gain	1.0000
3:197892758:TT:T	acceptor_gain	1.0000
3:197892760:C:CC	acceptor_gain	1.0000
3:197892764:T:C	acceptor_gain	1.0000
3:197892764:T:TC	acceptor_gain	1.0000
3:197932161:A:C	donor_gain	1.0000
3:197932169:CTGA:C	donor_loss	1.0000
3:197932170:TGAC:T	donor_loss	1.0000
3:197932208:C:A	donor_gain	1.0000
3:197932299:CTGC:C	acceptor_gain	1.0000
3:197932300:TGC:T	acceptor_gain	1.0000
3:197932301:GCC:G	acceptor_loss	1.0000
3:197932302:CCTG:C	acceptor_loss	1.0000
3:197932303:C:CC	acceptor_gain	1.0000
3:197932304:T:A	acceptor_loss	1.0000
3:197943755:A:C	donor_gain	1.0000
3:197943760:T:C	donor_gain	1.0000
3:197943796:C:CA	donor_gain	1.0000
3:197943804:A:AC	donor_gain	1.0000
3:197943805:C:CC	donor_gain	1.0000
3:197944047:TGTCT:T	acceptor_gain	1.0000
3:197944048:GTCT:G	acceptor_gain	1.0000

AlphaMissense

2985 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:197891513:C:G	R377P	0.993
3:197889698:C:G	R405P	0.992
3:197892689:A:G	L345P	0.992
3:197892647:A:G	L359P	0.991
3:197889702:A:G	W404R	0.989
3:197889702:A:T	W404R	0.989
3:197912691:A:G	L316P	0.987
3:197889708:C:G	A402P	0.986
3:197914017:A:G	L251P	0.983
3:197892698:T:G	Q342P	0.982
3:197892638:A:G	L362P	0.981
3:197892680:A:G	L348P	0.981
3:197892735:A:G	W330R	0.981
3:197892735:A:T	W330R	0.981
3:197892743:A:G	L327P	0.981
3:197914005:A:G	L255P	0.981
3:197913945:A:G	L275P	0.980
3:197889683:C:G	R410P	0.979
3:197912693:G:C	F315L	0.979
3:197912693:G:T	F315L	0.979
3:197912695:A:G	F315L	0.979
3:197913991:C:G	A260P	0.979
3:197943836:A:G	L75P	0.977
3:197892636:C:G	A363P	0.971
3:197892666:C:G	A353P	0.971
3:197889705:A:G	W403R	0.970
3:197889705:A:T	W403R	0.970
3:197912745:A:G	L298P	0.970
3:197914024:C:G	A249P	0.968
3:197892755:A:G	L323P	0.966

dbSNP variants (sampled 300 via entrez): RS1000017520 (3:197942547 A>C), RS1000128431 (3:197900032 G>A), RS1000173845 (3:197932947 ATATTATATAT>A), RS1000189308 (3:197901862 G>A), RS1000269576 (3:197960929 A>G), RS1000362000 (3:197892948 T>C), RS1000397713 (3:197928941 C>T), RS1000428733 (3:197928585 A>G), RS1000479540 (3:197900206 C>T), RS1000566547 (3:197916674 A>G), RS1000577665 (3:197898932 G>A), RS1000603970 (3:197951092 G>A,C,T), RS1000619386 (3:197950342 T>G), RS1000693038 (3:197950175 C>A,G,T), RS1000772618 (3:197939190 G>C)

Disease associations

OMIM: gene MIM:612477 | disease phenotypes: MIM:612528, MIM:105650

GenCC curated gene-disease

Mondo (2): Diamond-Blackfan anemia 5 (MONDO:0012925), Diamond-Blackfan anemia (MONDO:0015253)

Orphanet (1): Diamond-Blackfan anemia (Orphanet:124)

HPO phenotypes

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

GWAS associations

0 associations (top):

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D029503	Anemia, Diamond-Blackfan	C15.378.050.085.080.090; C15.378.050.750.500; C15.378.190.223.500.500.090; C16.320.077.090
C567280	Diamond-Blackfan Anemia 5 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

32 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases expression, affects cotreatment, decreases expression, decreases methylation	5
Benzo(a)pyrene	affects methylation, decreases expression, increases methylation	3
Air Pollutants	affects expression, increases abundance, increases expression	2
Tobacco Smoke Pollution	affects expression, decreases expression	2
bisphenol F	affects cotreatment, increases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	affects cotreatment, increases expression	1
trichostatin A	affects expression	1
sodium arsenite	increases expression	1
benzo(e)pyrene	increases methylation	1
aflatoxin B2	increases methylation	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
bisphenol S	affects cotreatment, increases expression	1
jinfukang	increases expression	1
Temozolomide	increases expression	1
Sunitinib	decreases expression	1
Carbamazepine	affects expression	1
Cisplatin	decreases expression	1
Dexamethasone	affects cotreatment, increases expression	1
Doxorubicin	decreases expression	1
Indomethacin	affects cotreatment, increases expression	1
Lead	decreases expression	1
Methapyrilene	increases methylation	1
Methyl Methanesulfonate	increases expression	1
Ozone	affects expression, increases abundance	1
Silicon Dioxide	decreases expression	1
Smoke	increases abundance, increases expression	1
Urethane	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00673608	PHASE4	COMPLETED	Magnetic Resonance Imaging (MRI) Assessments of the Heart and Liver Iron Load in Patients With Transfusion Induced Iron Overload
NCT00235391	PHASE3	COMPLETED	Expanded Access of Deferasirox to Patients With Congenital Disorders of Red Blood Cells and Chronic Iron Overload
NCT00001962	PHASE2	TERMINATED	A Study to Determine Whether Therapy With Daclizumab Will Benefit Patients With Bone Marrow Failure
NCT00011505	PHASE2	COMPLETED	Mobilization of Stem Cells With G-CSF for Collection From Patients With Diamond-Blackfan Anemia
NCT00301834	PHASE2	COMPLETED	Alemtuzumab, Fludarabine, and Busulfan Followed By Donor Stem Cell Transplant in Treating Young Patients With Hematologic Disorders
NCT00957931	PHASE2	COMPLETED	Allo-HCT MUD for Non-malignant Red Blood Cell (RBC) Disorders: Sickle Cell, Thal, and DBA: Reduced Intensity Conditioning, Co-tx MSCs
NCT01529827	PHASE2	COMPLETED	Fludarabine Phosphate, Melphalan, and Low-Dose Total-Body Irradiation Followed by Donor Peripheral Blood Stem Cell Transplant in Treating Patients With Hematologic Malignancies
NCT02386267	PHASE2	UNKNOWN	L-leucine in Diamond Blackfan Anemia Patients
NCT02512679	PHASE2	TERMINATED	Related Hematopoietic Stem Cell Transplantation (HSCT) for Genetic Diseases of Blood Cells
NCT03333486	PHASE2	TERMINATED	Fludarabine Phosphate, Cyclophosphamide, Total Body Irradiation, and Donor Stem Cell Transplant in Treating Patients With Blood Cancer
NCT04099966	PHASE2	RECRUITING	AlloSCT for Malignant and Non-malignant Hematologic Diseases Utilizing Alpha/Beta T Cell and CD19+ B Cell Depletion
NCT04965597	PHASE2	COMPLETED	Treosulfan-Based Conditioning Regimen Before a Blood or Bone Marrow Transplant for the Treatment of Bone Marrow Failure Diseases (BMT CTN 1904)
NCT01586455	PHASE1	COMPLETED	Human Placental-Derived Stem Cell Transplantation
NCT01917708	PHASE1	COMPLETED	Bone Marrow Transplant With Abatacept for Non-Malignant Diseases
NCT00176852	PHASE2/PHASE3	COMPLETED	Stem Cell Transplant for Hemoglobinopathy
NCT00176878	PHASE2/PHASE3	COMPLETED	Stem Cell Transplant for Bone Marrow Failure Syndromes
NCT00305708	PHASE1/PHASE2	COMPLETED	Busulfan, Antithymocyte Globulin, and Fludarabine Followed By a Donor Stem Cell Transplant in Treating Young Patients With Blood Disorders, Bone Marrow Disorders, Chronic Myelogenous Leukemia in First Chronic Phase, or Acute Myeloid Leukemia in First Remission
NCT01362595	PHASE1/PHASE2	COMPLETED	Pilot Phase I/II Study of Amino Acid Leucine in Treatment of Patients With Transfusion-Dependent Diamond Blackfan Anemia
NCT01419704	PHASE1/PHASE2	WITHDRAWN	Phase I/II Pilot Study of Mixed Chimerism to Treat Hemoglobinopathies
NCT01464164	PHASE1/PHASE2	TERMINATED	Safety and Efficacy Study of Sotatercept in Adults With Transfusion Dependent Diamond Blackfan Anemia
NCT01966367	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	CD34+ (Non-Malignant) Stem Cell Selection for Patients Receiving Allogeneic Stem Cell Transplantation
NCT02065869	PHASE1/PHASE2	TERMINATED	Safety Study of Gene Modified Donor T-cells Following TCRαβ+ Depleted Stem Cell Transplant
NCT03513328	PHASE1/PHASE2	COMPLETED	Conditioning Regimen for Allogeneic Hematopoietic Stem-Cell Transplantation
NCT03653338	PHASE1/PHASE2	RECRUITING	T-Cell Depleted Alternative Donor Bone Marrow Transplant for Sickle Cell Disease (SCD) and Other Anemias
NCT03733249	PHASE1/PHASE2	TERMINATED	Long Term Follow-up Study for Patients Enrolled on the BP-004 Clinical Study
NCT03966053	PHASE1/PHASE2	TERMINATED	The Use of Trifluoperazine in Transfusion Dependent DBA
NCT00027274	Not specified	RECRUITING	Cancer in Inherited Bone Marrow Failure Syndromes
NCT00244010	Not specified	COMPLETED	Partially Matched Stem Cell Transplantation for Patients With Refractory Severe Aplastic Anemia or Refractory Cytopenias
NCT00290628	Not specified	TERMINATED	Donor Umbilical Cord Blood Transplant in Treating Patients With Hematologic Cancer
NCT01114776	Not specified	COMPLETED	Multi-Center Study of Iron Overload: Pilot Study
NCT01319851	Not specified	TERMINATED	Alefacept and Allogeneic Hematopoietic Stem Cell Transplantation
NCT01758042	Not specified	COMPLETED	Bone Marrow and Kidney Transplant for Patients With Chronic Kidney Disease and Blood Disorders
NCT01913548	Not specified	COMPLETED	Multi-Center Study of Iron Overload: Survey Study (MCSIO)
NCT02179359	Not specified	TERMINATED	Hematopoietic Stem Cell Transplant for High Risk Hemoglobinopathies
NCT02720679	Not specified	RECRUITING	Investigation of the Genetics of Hematologic Diseases
NCT03050268	Not specified	RECRUITING	Familial Investigations of Childhood Cancer Predisposition
NCT05687474	Not specified	COMPLETED	Baby Detect : Genomic Newborn Screening
NCT07186179	Not specified	RECRUITING	Mobilization of CD34+ Peripheral Blood Stem Cells in Patients With Diamond Blackfan Anemia Syndrome (DBAS)