CELF3

Summary

CELF3 (CUGBP Elav-like family member 3, HGNC:11967) is a protein-coding gene on chromosome 1q21.3, encoding CUGBP Elav-like family member 3 (Q5SZQ8). RNA-binding protein involved in the regulation of pre-mRNA alternative splicing.

Members of the CELF/BRUNOL protein family contain two N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM domain, and a divergent segment of 160-230 aa between the second and third RRM domains. Members of this protein family regulate pre-mRNA alternative splicing and may also be involved in mRNA editing, and translation. Multiple alternatively spliced transcript variants encoding different isoforms have been identified in this gene.

Source: NCBI Gene 11189 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 50 total
• MANE Select transcript: NM_007185

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:11967
Approved symbol	CELF3
Name	CUGBP Elav-like family member 3
Location	1q21.3
Locus type	gene with protein product
Status	Approved
Aliases	CAGH4, BRUNOL1, ERDA4, MGC57297
Ensembl gene	ENSG00000159409
Ensembl biotype	protein_coding
OMIM	612678
Entrez	11189

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 3 protein_coding, 3 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000290583, ENST00000290585, ENST00000419910, ENST00000420342, ENST00000470688, ENST00000478829, ENST00000479893

RefSeq mRNA: 5 — MANE Select: NM_007185 NM_001172648, NM_001172649, NM_001291106, NM_001291107, NM_007185

CCDS: CCDS1002, CCDS53367

Canonical transcript exons

ENST00000290583 — 13 exons

Exon	Start	End
ENSE00001148654	151707145	151707294
ENSE00002276558	151715876	151716803
ENSE00003487160	151707792	151707935
ENSE00003499250	151708998	151709077
ENSE00003525296	151714594	151714676
ENSE00003527202	151709743	151709791
ENSE00003530989	151707507	151707648
ENSE00003541137	151706669	151706734
ENSE00003579790	151706224	151706361
ENSE00003600557	151705031	151705168
ENSE00003632602	151709220	151709348
ENSE00003675613	151705822	151705965
ENSE00003893777	151700058	151703448

Expression profiles

Bgee: expression breadth ubiquitous, 177 present calls, max score 98.68.

FANTOM5 (CAGE): breadth broad, TPM avg 4.9349 / max 491.5363, expressed in 250 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
14455	3.4130	235
14454	1.4197	190
14453	0.0387	21
14450	0.0302	16
14451	0.0234	9
14452	0.0099	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cortical plate	UBERON:0005343	98.68	gold quality
right hemisphere of cerebellum	UBERON:0014890	97.82	gold quality
ganglionic eminence	UBERON:0004023	97.68	gold quality
cerebellar hemisphere	UBERON:0002245	97.40	gold quality
cerebellar cortex	UBERON:0002129	97.16	gold quality
cerebellum	UBERON:0002037	95.86	gold quality
right frontal lobe	UBERON:0002810	95.68	gold quality
pituitary gland	UBERON:0000007	95.32	gold quality
nucleus accumbens	UBERON:0001882	95.26	gold quality
adenohypophysis	UBERON:0002196	94.21	gold quality
cingulate cortex	UBERON:0003027	94.16	gold quality
amygdala	UBERON:0001876	94.11	gold quality
anterior cingulate cortex	UBERON:0009835	94.00	gold quality
type B pancreatic cell	CL:0000169	93.90	gold quality
prefrontal cortex	UBERON:0000451	93.63	gold quality
Brodmann (1909) area 9	UBERON:0013540	93.62	gold quality
putamen	UBERON:0001874	93.27	gold quality
caudate nucleus	UBERON:0001873	92.87	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	92.68	gold quality
gluteal muscle	UBERON:0002000	92.31	gold quality
neocortex	UBERON:0001950	92.29	gold quality
triceps brachii	UBERON:0001509	92.14	gold quality
frontal cortex	UBERON:0001870	92.12	gold quality
forebrain	UBERON:0001890	91.73	gold quality
olfactory bulb	UBERON:0002264	91.72	gold quality
telencephalon	UBERON:0001893	91.65	gold quality
brain	UBERON:0000955	91.63	gold quality
cerebral cortex	UBERON:0000956	91.62	gold quality
temporal lobe	UBERON:0001871	91.36	gold quality
inferior olivary complex	UBERON:0002127	91.01	silver quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-GEOD-93593	yes	167.29
E-GEOD-137537	yes	14.08
E-ANND-3	no	1.45

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

151 targeting CELF3, 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-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-34C-5P	99.97	70.45	1577
HSA-MIR-449B-5P	99.97	70.26	1580
HSA-MIR-5698	99.97	68.49	2029
HSA-MIR-4723-5P	99.97	68.70	2034
HSA-MIR-7111-5P	99.97	68.48	2062
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-6888-3P	99.97	65.95	1170
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-4487	99.96	64.58	1252
HSA-MIR-2110	99.96	66.68	1930
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AH-3P	99.93	72.54	4872
HSA-MIR-548AM-3P	99.93	72.54	4872
HSA-MIR-548AQ-3P	99.93	72.66	4867
HSA-MIR-6508-5P	99.92	70.67	2465
HSA-MIR-10527-5P	99.91	72.28	3754

Literature-anchored findings (GeneRIF, showing 2)

• Gomafu indirectly modulates the function of the splicing factors SF1 and Celf3 by sequestering these proteins into separate nuclear bodies. (PMID:25145264)
• CELF3 expression is associated with colorectal cancer metastasis. (PMID:30132996)

Cross-species orthologs

10 orthologs

Organism	Symbol	Gene ID
danio_rerio	celf3b	ENSDARG00000006983
danio_rerio	celf3a	ENSDARG00000034668
mus_musculus	Celf3	ENSMUSG00000028137
rattus_norvegicus	Celf3	ENSRNOG00000020875
drosophila_melanogaster	bru1	FBGN0000114
drosophila_melanogaster	Pof	FBGN0035047
drosophila_melanogaster	bru2	FBGN0262475
caenorhabditis_elegans		WBGENE00017135
caenorhabditis_elegans		WBGENE00017140
caenorhabditis_elegans		WBGENE00020354

Paralogs (6): CELF2 (ENSG00000048740), CELF4 (ENSG00000101489), RBM28 (ENSG00000106344), CELF6 (ENSG00000140488), CELF1 (ENSG00000149187), CELF5 (ENSG00000161082)

Protein

Protein identifiers

CUGBP Elav-like family member 3 — Q5SZQ8 (reviewed: Q5SZQ8)

Alternative names: Bruno-like protein 1, CAG repeat protein 4, CUG-BP- and ETR-3-like factor 3, ELAV-type RNA-binding protein 1, Expanded repeat domain protein CAG/CTG 4, RNA-binding protein BRUNOL-1, Trinucleotide repeat-containing gene 4 protein

All UniProt accessions (2): Q5SZQ8, H0Y623

UniProt curated annotations — full annotation on UniProt →

Function. RNA-binding protein involved in the regulation of pre-mRNA alternative splicing. Mediates exon inclusion and/or exclusion in pre-mRNA that are subject to tissue-specific and developmentally regulated alternative splicing. Specifically activates exon 5 inclusion of cardiac isoforms of TNNT2 during heart remodeling at the juvenile to adult transition. Activates the splicing of MAPT/Tau exon 10. Binds to muscle-specific splicing enhancer (MSE) intronic sites flanking the alternative exon 5 of TNNT2 pre-mRNA.

Subcellular location. Nucleus. Cytoplasm.

Tissue specificity. Expressed in brain.

Polymorphism. The poly-Gln tract in AAK07474 may be polymorphic.

Similarity. Belongs to the CELF/BRUNOL family.

Isoforms (4)

UniProt ID	Names	Canonical?
Q5SZQ8-1	1	yes
Q5SZQ8-2	2
Q5SZQ8-3	3
Q5SZQ8-4	4

RefSeq proteins (5): NP_001166119, NP_001166120, NP_001278035, NP_001278036, NP_009116* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000504	RRM_dom	Domain
IPR012677	Nucleotide-bd_a/b_plait_sf	Homologous_superfamily
IPR034648	CELF3/4/5/6_RRM1	Domain
IPR035979	RBD_domain_sf	Homologous_superfamily

Pfam: PF00076

UniProt features (22 total): strand 5, sequence conflict 4, domain 3, helix 3, splice variant 3, compositionally biased region 2, chain 1, region of interest 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
2DNO	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5SZQ8-F1	71.04	0.41

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 189 (showing top): GOBP_POSITIVE_REGULATION_OF_RNA_SPLICING, GOBP_POSITIVE_REGULATION_OF_MRNA_PROCESSING, PEREZ_TP63_TARGETS, LFA1_Q6, GCANCTGNY_MYOD_Q6, GOBP_ALTERNATIVE_MRNA_SPLICING_VIA_SPLICEOSOME, AP4_Q6, GOBP_MALE_GAMETE_GENERATION, CAGCTG_AP4_Q5, SOX9_B1, GOBP_NUCLEUS_ORGANIZATION, GOBP_CILIUM_MOVEMENT, HEN1_01, GOBP_CILIUM_OR_FLAGELLUM_DEPENDENT_CELL_MOTILITY, GOBP_PROTEIN_RNA_COMPLEX_ORGANIZATION

GO Biological Process (10): regulation of alternative mRNA splicing, via spliceosome (GO:0000381), mRNA splice site recognition (GO:0006376), spermatogenesis (GO:0007283), RNA splicing (GO:0008380), flagellated sperm motility (GO:0030317), nuclear body organization (GO:0030575), positive regulation of mRNA splicing, via spliceosome (GO:0048026), lncRNA transcription (GO:0140742), mRNA processing (GO:0006397), gene expression (GO:0010467)

GO Molecular Function (5): RNA binding (GO:0003723), mRNA binding (GO:0003729), pre-mRNA binding (GO:0036002), 7SK snRNA binding (GO:0097322), nucleic acid binding (GO:0003676)

GO Cellular Component (4): nucleus (GO:0005634), cytoplasm (GO:0005737), nuclear body (GO:0016604), ribonucleoprotein complex (GO:1990904)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
regulation of mRNA splicing, via spliceosome	2
RNA processing	2
RNA binding	2
alternative mRNA splicing, via spliceosome	1
spliceosomal complex assembly	1
protein-RNA complex assembly	1
developmental process involved in reproduction	1
male gamete generation	1
cilium-dependent cell motility	1
cilium movement involved in cell motility	1
sperm motility	1
nucleus organization	1
mRNA splicing, via spliceosome	1
positive regulation of RNA splicing	1
positive regulation of mRNA processing	1
DNA-templated transcription	1
mRNA metabolic process	1
macromolecule biosynthetic process	1
nucleic acid binding	1
snRNA binding	1
binding	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
cellular anatomical structure	1
nucleoplasm	1
intracellular membraneless organelle	1
protein-containing complex	1

Protein interactions and networks

STRING

1384 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CELF3	CEBPD	P49716	900
CELF3	RRM2	P31350	831
CELF3	TNNT2	P45379	787
CELF3	RRM1	P23921	719
CELF3	MBNL2	Q5VZF2	617
CELF3	MBNL3	Q9NUK0	589
CELF3	DMPK	Q09013	585
CELF3	CLCN1	P35523	544
CELF3	MBNL1	Q9NR56	500
CELF3	QKI	Q96PU8	452
CELF3	NOVA1	P51513	425
CELF3	MAPT	P10636	410
CELF3	CCNA2	P20248	406
CELF3	CCNA1	P78396	402
CELF3	INSR	P06213	369

IntAct

7 interactions, top by confidence:

A	B	Type	Score
ANXA7	CELF3	psi-mi:“MI:0915”(physical association)	0.370
CELF3	CDKN1A	psi-mi:“MI:0915”(physical association)	0.370
CELF3	CELF5	psi-mi:“MI:0914”(association)	0.350
CELF3	TLE1	psi-mi:“MI:0915”(physical association)	0.000
CELF3	SOBP	psi-mi:“MI:0915”(physical association)	0.000
CELF3	ERG28	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (14): CELF5 (Affinity Capture-MS), MKRN1 (Affinity Capture-MS), CELF3 (Affinity Capture-MS), C14orf1 (Two-hybrid), SOBP (Two-hybrid), TLE1 (Two-hybrid), HID1 (Two-hybrid), CELF5 (Affinity Capture-MS), MKRN1 (Affinity Capture-MS), HSP90AB1 (Cross-Linking-MS (XL-MS)), CELF3 (Two-hybrid), CELF3 (Two-hybrid), CELF3 (Two-hybrid), CELF3 (Two-hybrid)

ESM2 similar proteins: A0A0R4IEW8, A0JM51, A4QNI8, O09032, O57406, P26378, P29558, Q08E07, Q0V9L3, Q14576, Q15434, Q1RMJ7, Q28GD4, Q3ZBP3, Q3ZC34, Q4R535, Q5NVC8, Q5PQP1, Q5R995, Q5RBD3, Q5SZQ8, Q60899, Q60900, Q61701, Q62176, Q6DGV1, Q6DIV4, Q6XE24, Q6YZW2, Q7SZT7, Q7T3I7, Q7TN33, Q7TSY6, Q7ZWM3, Q8BWL5, Q8CH84, Q8CIN6, Q8N6W0, Q8VC70, Q8VXZ9

Diamond homologs: A0A0D1DWZ5, A0JM51, A1CRM1, A1D4K4, A2A5N3, A2Q848, A3LXL0, A4IIM2, A4QUF0, A5DW14, F4HT49, O04319, O14102, O22173, O57406, O64380, O95319, O97018, P04147, P0CB38, P0CP46, P0CP47, P20965, P21187, P28659, P29558, P31209, P32588, P39697, P42731, P60047, P60048, P60049, P60050, Q08E07, Q09442, Q0CR95, Q0U1G2, Q13310, Q15427

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	39
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2832 predictions. Top by Δscore:

Variant	Effect	Δscore
1:151705026:CCCA:C	donor_loss	1.0000
1:151705027:CCA:C	donor_loss	1.0000
1:151705028:CACC:C	donor_loss	1.0000
1:151705029:ACC:A	donor_loss	1.0000
1:151705030:C:T	donor_loss	1.0000
1:151705060:T:TA	donor_gain	1.0000
1:151705065:AGG:A	donor_gain	1.0000
1:151705818:TTACC:T	donor_loss	1.0000
1:151705819:TA:T	donor_loss	1.0000
1:151705820:A:AC	donor_gain	1.0000
1:151705821:C:CC	donor_gain	1.0000
1:151705821:C:CT	donor_loss	1.0000
1:151705961:AGGGC:A	acceptor_gain	1.0000
1:151705962:GGGC:G	acceptor_gain	1.0000
1:151705963:GGC:G	acceptor_gain	1.0000
1:151705963:GGCCT:G	acceptor_loss	1.0000
1:151705964:GC:G	acceptor_gain	1.0000
1:151705965:CC:C	acceptor_gain	1.0000
1:151705966:C:CC	acceptor_gain	1.0000
1:151705966:C:CG	acceptor_loss	1.0000
1:151705970:G:C	acceptor_gain	1.0000
1:151705970:G:GC	acceptor_gain	1.0000
1:151705974:C:CT	acceptor_gain	1.0000
1:151705975:G:T	acceptor_gain	1.0000
1:151705977:C:CT	acceptor_gain	1.0000
1:151705978:A:T	acceptor_gain	1.0000
1:151706196:T:TA	donor_gain	1.0000
1:151706218:CAGCA:C	donor_loss	1.0000
1:151706220:GCAC:G	donor_loss	1.0000
1:151706221:CACCT:C	donor_loss	1.0000

AlphaMissense

3059 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:151705071:C:A	K456N	1.000
1:151705071:C:G	K456N	1.000
1:151705073:T:C	K456E	1.000
1:151705078:T:G	Q454P	1.000
1:151705081:A:T	V453D	1.000
1:151705083:T:A	K452N	1.000
1:151705083:T:G	K452N	1.000
1:151705084:T:A	K452I	1.000
1:151705085:T:C	K452E	1.000
1:151705087:A:C	L451R	1.000
1:151705087:A:G	L451P	1.000
1:151705087:A:T	L451H	1.000
1:151705091:G:T	R450S	1.000
1:151705092:C:A	K449N	1.000
1:151705092:C:G	K449N	1.000
1:151705094:T:C	K449E	1.000
1:151705107:G:C	F444L	1.000
1:151705107:G:T	F444L	1.000
1:151705108:A:G	F444S	1.000
1:151705109:A:G	F444L	1.000
1:151705111:C:T	G443D	1.000
1:151705126:A:T	I438N	1.000
1:151705129:G:T	A437D	1.000
1:151705138:G:T	A434D	1.000
1:151705156:A:G	F428S	1.000
1:151705158:A:C	S427R	1.000
1:151705158:A:T	S427R	1.000
1:151705160:T:G	S427R	1.000
1:151705162:A:T	V426E	1.000
1:151705164:A:C	F425L	1.000

dbSNP variants (sampled 300 via entrez): RS1000079312 (1:151716616 A>G), RS1000306906 (1:151701975 G>A,C), RS1000538476 (1:151704347 T>A,C), RS1000554424 (1:151716245 A>C), RS1001066102 (1:151714159 C>T), RS1001274120 (1:151717843 A>G,T), RS1001345939 (1:151703840 C>T), RS1001397320 (1:151710817 G>C), RS1001429815 (1:151710418 G>A), RS1001484236 (1:151718281 T>A), RS1001857224 (1:151712333 T>C), RS1002377158 (1:151712462 G>A), RS1002392431 (1:151704914 G>A,T), RS1002434315 (1:151712104 G>A,C), RS1002511312 (1:151703890 C>T)

Disease associations

OMIM: gene MIM:612678 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): neuromuscular disease (MONDO:0019056)

Orphanet (1): Neuromuscular disease (Orphanet:68381)

HPO phenotypes

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

GWAS associations

0 associations (top):

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D009468	Neuromuscular Diseases	C10.668

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

19 total (human), top 19 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, increases methylation	2
Aflatoxin B1	decreases methylation, increases methylation	2
aristolochic acid I	increases expression	1
dimethylselenide	increases expression, increases oxidation	1
butyraldehyde	decreases expression	1
tetrabromobisphenol A	decreases expression	1
beta-methylcholine	affects expression	1
pentanal	decreases expression	1
CGP 52608	affects binding, increases reaction	1
Resveratrol	affects cotreatment, decreases expression	1
Vorinostat	decreases expression	1
Acetaminophen	decreases expression	1
Cytarabine	increases expression	1
Estradiol	decreases expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Ribonucleotides	affects binding	1
Testosterone	increases expression	1
Valproic Acid	increases expression	1
Reactive Oxygen Species	increases expression, increases oxidation	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00331656	PHASE4	UNKNOWN	Comparative Study of Non-Invasive Mask Ventilation vs Cuirass Ventilation in Patients With Acute Respiratory Failure.
NCT00994552	PHASE4	UNKNOWN	Comparison of Pressure Support and Pressure Control Ventilation in Chronic Respiratory Failure
NCT00839033	PHASE3	TERMINATED	Evaluation of a Mechanical Device During Acute Respiratory Failure in Patients With Neuromuscular Disorders
NCT00942227	PHASE3	COMPLETED	The Value of Traction in Treatment of Lumbar Radiculopathy
NCT00979108	PHASE3	COMPLETED	The Value of Traction in the Treatment of Cervical Radiculopathy
NCT01826487	PHASE3	COMPLETED	Phase 3 Study of Ataluren in Participants With Nonsense Mutation Duchenne Muscular Dystrophy (nmDMD)
NCT02090959	PHASE3	TERMINATED	An Extension Study of Ataluren (PTC124) in Participants With Nonsense Mutation Dystrophinopathy
NCT02436096	PHASE3	COMPLETED	A Study to Evaluate eFFIcacy and Safety of Sublingual TNX-102 SL Tablet Taken at Bedtime in Patients With fibRoMyalgia
NCT02829814	PHASE3	TERMINATED	Repeat of: A Study to Evaluate Efficacy and Safety of Sublingual TNX-102 SL Tablet Taken at Bedtime in Patients With Fibromyalgia
NCT03179631	PHASE3	COMPLETED	Long-Term Outcomes of Ataluren in Duchenne Muscular Dystrophy
NCT05126758	PHASE3	ACTIVE_NOT_RECRUITING	A Study of Deramiocel (CAP-1002) in Ambulatory and Non-Ambulatory Patients With Duchenne Muscular Dystrophy
NCT05156320	PHASE3	COMPLETED	Efficacy and Safety of Apitegromab in Patients With Later-Onset Spinal Muscular Atrophy Treated With Nusinersen or Risdiplam
NCT05337553	PHASE3	ACTIVE_NOT_RECRUITING	A Study to Evaluate the Efficacy and Safety of Taldefgrobep Alfa in Participants With Spinal Muscular Atrophy
NCT05626855	PHASE3	ACTIVE_NOT_RECRUITING	Long-Term Safety & Efficacy of Apitegromab in Patients With SMA Who Completed Previous Trials of Apitegromab
NCT06672237	PHASE3	RECRUITING	A Phase 3 Study of NTLA-2001 in ATTRv-PN
NCT01074359	PHASE2	TERMINATED	Safety and Efficacy Study of A0001 in Patients With the A3243G Mitochondrial DNA Point Mutation
NCT01371149	PHASE2	COMPLETED	Patient -Ventilator Interaction in Chronic Respiratory Failure
NCT02022072	PHASE2	TERMINATED	Evaluation of Vital Capacity
NCT03127514	PHASE2	COMPLETED	AMX0035 in Patients With Amyotrophic Lateral Sclerosis (ALS)
NCT03406780	PHASE2	COMPLETED	A Study of CAP-1002 in Ambulatory and Non-Ambulatory Patients With Duchenne Muscular Dystrophy
NCT03921528	PHASE2	COMPLETED	An Active Treatment Study of SRK-015 in Patients With Type 2 or Type 3 Spinal Muscular Atrophy
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