Muscular dystrophy

Summary

Muscular dystrophy (MONDO:0020121) is a disease (an umbrella term covering 11 Mondo subtypes) caused by DTNA (GenCC Strong), with 32 cohort genes and 130 clinical trials. The dominant Reactome pathway is Formation of the dystrophin-glycoprotein complex (DGC) (5 cohort genes). Top therapeutic interventions include ataluren, enalapril, and artenimol.

At a glance

• Causal gene: DTNA (GenCC Strong)
• Umbrella term: 11 Mondo subtypes
• Cohort genes: 32
• ClinVar variants: 75
• Clinical trials: 130

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	muscular dystrophy
Mondo ID	MONDO:0020121
MeSH	D009136
Orphanet	98473
DOID	DOID:9884
ICD-10-CM	G71.0
ICD-11	1464662404
NCIT	C84910
SNOMED CT	73297009
UMLS	C0026850
MedGen	44527
GARD	0007922
MedDRA	10028356
Is cancer (heuristic)	no

Data availability: 75 ClinVar variants · 2 GenCC gene-disease records · 3 cell lines.

Disease family

An umbrella term covering 11 Mondo subtypes.

Classification path: disease › human disease › disease by body system or component › musculoskeletal system disorder › muscle tissue disorder › skeletal muscle disorder › myopathy › muscular dystrophy

Related subtypes (31): polyglucosan body myopathy, muscular atrophy, myopathy of extraocular muscle, acute quadriplegic myopathy, myofascial pain syndrome, myopathy with abnormal lipid metabolism, proximal myopathy with focal depletion of mitochondria, Brody myopathy, rippling muscle disease, myopathy due to myoadenylate deaminase deficiency, proximal myopathy with extrapyramidal signs, intermediate nemaline myopathy, hereditary inclusion-body myopathy, hereditary continuous muscle fiber activity, congenital myopathy, metabolic myopathy, myositis disease, collagen 6-related myopathy, myopathy caused by variation in CRPPA, drug-induced myopathy, myopathy caused by variation in FKRP, myopathy caused by variation in FKTN, myopathy caused by variation in POMGNT1, myopathy caused by variation in POMGNT2, myopathy caused by variation in POMT1, myopathy caused by variation in POMT2, myopathy caused by variation in GMPPB, FHL1-related myopathy, myopathy, sarcoplasmic body, myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2, myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis

Subtypes (11): muscular dystrophy, Barnes type, muscular dystrophy, cardiac type, muscular dystrophy, Hemizygous lethal type, muscular dystrophy, Mabry type, muscular dystrophy, progressive Pectorodorsal, progressive muscular dystrophy, distal myopathy, congenital muscular dystrophy, Fukuda-Miyanomae-Nakata syndrome, LAMA2-related muscular dystrophy, DMD-related muscular dystrophy

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

75 retrieved; paginated sample, class counts are floors:

18 pathogenic/likely pathogenic, 18 pathogenic, 13 uncertain significance, 13 conflicting classifications of pathogenicity, 11 likely pathogenic, 1 benign/likely benign, 1 benign

ClinVar	Variant (HGVS)	Gene	Classification	Review
267841	46;XX;t(7;13)(p13;q34)dn		Pathogenic	criteria provided, single submitter
285742	NM_213599.3(ANO5):c.1213C>T (p.Gln405Ter)	ANO5	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
17621	NM_000070.3(CAPN3):c.550del (p.Thr184fs)	CAPN3	Pathogenic	reviewed by expert panel
281062	NM_000070.3(CAPN3):c.1322del (p.Gly441fs)	CAPN3	Pathogenic	reviewed by expert panel
374143	NM_001849.4(COL6A2):c.736-2A>G	COL6A2	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
228331	NC_000023.11:g.(?31663473)(31993012_?)del	DMD	Pathogenic	criteria provided, single submitter
2502344	NM_004006.3(DMD):c.5048del (p.Thr1683fs)	DMD	Pathogenic	criteria provided, single submitter
2502887	NM_004006.3(DMD):c.1150-14_1158dup	DMD	Pathogenic	no assertion criteria provided
505317	NM_004006.2(DMD):c.(?32)(649_?)del	DMD	Pathogenic	criteria provided, single submitter
989453	NM_004006.3(DMD):c.4271T>A (p.Leu1424Ter)	DMD	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1321153	NM_001130987.2(DYSF):c.3931C>T (p.Gln1311Ter)	DYSF	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
4235	NM_024301.5(FKRP):c.1387A>G (p.Asn463Asp)	FKRP	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
225925	NM_021971.4(GMPPB):c.859C>T (p.Arg287Trp)	GMPPB	Pathogenic	criteria provided, multiple submitters, no conflicts
60546	NM_021971.4(GMPPB):c.79G>C (p.Asp27His)	GMPPB	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
30406	NM_004287.5(GOSR2):c.430G>T (p.Gly144Trp)	GOSR2	Pathogenic	criteria provided, multiple submitters, no conflicts
14478	NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp)	LMNA	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
14495	NM_170707.4(LMNA):c.1130G>A (p.Arg377His)	LMNA	Pathogenic	criteria provided, multiple submitters, no conflicts
14525	NM_170707.4(LMNA):c.1072G>A (p.Glu358Lys)	LMNA	Pathogenic	criteria provided, multiple submitters, no conflicts
435769	NM_170707.4(LMNA):c.832G>C (p.Ala278Pro)	LMNA	Pathogenic	criteria provided, multiple submitters, no conflicts
435773	NM_170707.4(LMNA):c.1588C>T (p.Leu530Phe)	LMNA	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
435777	NM_170707.4(LMNA):c.840_845del (p.Arg280_Asn281del)	LMNA	Pathogenic	criteria provided, single submitter
66765	NM_170707.4(LMNA):c.104T>C (p.Leu35Pro)	LMNA	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
66772	NM_170707.4(LMNA):c.1081G>A (p.Glu361Lys)	LMNA	Pathogenic	criteria provided, multiple submitters, no conflicts
66931	NM_170707.4(LMNA):c.746G>A (p.Arg249Gln)	LMNA	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
211951	NM_013382.7(POMT2):c.678del (p.Trp226fs)	LOC130056175	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
405440	NM_004287.5(GOSR2):c.22dup (p.Thr8fs)	LRRC37A2	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
7706	NM_000303.3(PMM2):c.422G>A (p.Arg141His)	PMM2	Pathogenic	criteria provided, multiple submitters, no conflicts
211950	NM_013382.7(POMT2):c.1577-5_1577-1delinsTGA	POMT2	Pathogenic	criteria provided, single submitter
3221	NM_013382.7(POMT2):c.1997A>G (p.Tyr666Cys)	POMT2	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
4492	NM_206926.2(SELENON):c.1295G>A (p.Arg432Gln)	SELENON	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 6 · Orphanet: 121 · 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
DTNA	Strong	Autosomal dominant	muscular dystrophy	5
MAMDC2	Moderate	Autosomal dominant	muscular dystrophy

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
DTNA	Orphanet:54260	Left ventricular noncompaction
SGCA	Orphanet:62	Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3
SGCD	Orphanet:154	Familial isolated dilated cardiomyopathy
SGCD	Orphanet:219	Delta-sarcoglycan-related limb-girdle muscular dystrophy R6
TTN	Orphanet:140922	Titin-related limb-girdle muscular dystrophy R10
TTN	Orphanet:154	Familial isolated dilated cardiomyopathy
TTN	Orphanet:169186	Autosomal recessive centronuclear myopathy
TTN	Orphanet:178464	Hereditary myopathy with early respiratory failure
TTN	Orphanet:289377	Early-onset myopathy with fatal cardiomyopathy
TTN	Orphanet:293888	Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant
TTN	Orphanet:293899	Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant
TTN	Orphanet:293910	Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant
TTN	Orphanet:324604	Classic multiminicore myopathy
TTN	Orphanet:334	Hereditary atrial fibrillation
TTN	Orphanet:466921	Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome
TTN	Orphanet:609	Tibial muscular dystrophy
TTN	Orphanet:707983	Early-onset autosomal recessive TTN-related distal myopathy
CAPN3	Orphanet:267	Calpain-3-related limb-girdle muscular dystrophy R1
CAPN3	Orphanet:565909	Calpain-3-related limb-girdle muscular dystrophy D4
TP63	Orphanet:1072	Ankyloblepharon filiforme adnatum-cleft palate syndrome
TP63	Orphanet:141291	Cleft lip and alveolus
TP63	Orphanet:1896	EEC syndrome
TP63	Orphanet:199302	Isolated cleft lip
TP63	Orphanet:199306	Cleft lip/palate
TP63	Orphanet:2440	Isolated split hand-split foot malformation
TP63	Orphanet:69085	Limb-mammary syndrome
TP63	Orphanet:93930	Classic bladder exstrophy
TP63	Orphanet:978	ADULT syndrome
SELENON	Orphanet:2020	Congenital fiber-type disproportion myopathy
SELENON	Orphanet:324604	Classic multiminicore myopathy
SELENON	Orphanet:84132	Desmin-related myopathy with Mallory body-like inclusions
SELENON	Orphanet:97244	Rigid spine syndrome
FKRP	Orphanet:34515	FKRP-related limb-girdle muscular dystrophy R9
FKRP	Orphanet:370959	Congenital muscular dystrophy with cerebellar involvement
FKRP	Orphanet:370968	Congenital muscular dystrophy with intellectual disability
FKRP	Orphanet:370980	Congenital muscular dystrophy without intellectual disability
FKRP	Orphanet:588	Muscle-eye-brain disease
FKRP	Orphanet:899	Walker-Warburg syndrome
CHKB	Orphanet:280671	Megaconial congenital muscular dystrophy
CHKB	Orphanet:521305	Proximal myopathy with focal depletion of mitochondria
POMT2	Orphanet:206559	POMT2-related limb-girdle muscular dystrophy R14
POMT2	Orphanet:370959	Congenital muscular dystrophy with cerebellar involvement
POMT2	Orphanet:370968	Congenital muscular dystrophy with intellectual disability
POMT2	Orphanet:588	Muscle-eye-brain disease
POMT2	Orphanet:899	Walker-Warburg syndrome
COL6A2	Orphanet:289380	Myosclerosis
COL6A2	Orphanet:610	Bethlem muscular dystrophy
COL6A2	Orphanet:646113	Intermediate collagen VI-related muscular dystrophy
COL6A2	Orphanet:75840	Ullrich congenital muscular dystrophy
COL6A3	Orphanet:464440	Primary dystonia, DYT27 type

Cohort genes → proteins

32 cohort genes, 32 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	32

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
MAMDC2	HGNC:23673	ENSG00000165072	Q7Z304	MAM domain-containing protein 2	gencc
DTNA	HGNC:3057	ENSG00000134769	Q9Y4J8	Dystrobrevin alpha	gencc
SGCA	HGNC:10805	ENSG00000108823	Q16586	Alpha-sarcoglycan	clinvar
SGCD	HGNC:10807	ENSG00000170624	Q92629	Delta-sarcoglycan	clinvar
TTN	HGNC:12403	ENSG00000155657	Q8WZ42	Titin	clinvar
CAPN3	HGNC:1480	ENSG00000092529	P20807	Calpain-3	clinvar
TP63	HGNC:15979	ENSG00000073282	Q9H3D4	Tumor protein 63	clinvar
SELENON	HGNC:15999	ENSG00000162430	Q9NZV5	Selenoprotein N	clinvar
FKRP	HGNC:17997	ENSG00000181027	Q9H9S5	Ribitol 5-phosphate transferase FKRP	clinvar
CHKB	HGNC:1938	ENSG00000100288	Q9Y259	Choline/ethanolamine kinase	clinvar
POMT2	HGNC:19743	ENSG00000009830	Q9UKY4	Protein O-mannosyl-transferase 2	clinvar
COL6A2	HGNC:2212	ENSG00000142173	P12110	Collagen alpha-2(VI) chain	clinvar
COL6A3	HGNC:2213	ENSG00000163359	P12111	Collagen alpha-3(VI) chain	clinvar
GMPPB	HGNC:22932	ENSG00000173540	Q9Y5P6	Mannose-1-phosphate guanylyltransferase catalytic subunit beta	clinvar
TRAPPC11	HGNC:25751	ENSG00000168538	Q7Z392	Trafficking protein particle complex subunit 11	clinvar
ANO5	HGNC:27337	ENSG00000171714	Q75V66	Anoctamin-5	clinvar
SMCHD1	HGNC:29090	ENSG00000101596	A6NHR9	Structural maintenance of chromosomes flexible hinge domain-containing protein 1	clinvar
DMD	HGNC:2928	ENSG00000198947	P11532	Dystrophin	clinvar
DYSF	HGNC:3097	ENSG00000135636	O75923	Dysferlin	clinvar
LRRC37A2	HGNC:32404	ENSG00000238083	A6NM11	Leucine-rich repeat-containing protein 37A2	clinvar
DTHD1	HGNC:37261	ENSG00000197057	Q6ZMT9	Death domain-containing protein 1	clinvar
CRPPA	HGNC:37276	ENSG00000214960	A4D126	D-ribitol-5-phosphate cytidylyltransferase	clinvar
GAA	HGNC:4065	ENSG00000171298	P10253	Lysosomal alpha-glucosidase	clinvar
GOSR2	HGNC:4431	ENSG00000108433	O14653	Golgi SNAP receptor complex member 2	clinvar
HMGCR	HGNC:5006	ENSG00000113161	P04035	3-hydroxy-3-methylglutaryl-coenzyme A reductase	clinvar
LAMA2	HGNC:6482	ENSG00000196569	P24043	Laminin subunit alpha-2	clinvar
LARGE1	HGNC:6511	ENSG00000133424	O95461	Xylosyl- and glucuronyltransferase LARGE1	clinvar
LMNA	HGNC:6636	ENSG00000160789	P02545	Prelamin-A/C	clinvar
MYH2	HGNC:7572	ENSG00000125414	Q9UKX2	Myosin-2	clinvar
NEB	HGNC:7720	ENSG00000183091	P20929	Nebulin	clinvar
PMM2	HGNC:9115	ENSG00000140650	O15305	Phosphomannomutase 2	clinvar
PSMB4	HGNC:9541	ENSG00000159377	P28070	Proteasome subunit beta type-4	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
DTNA	Dystrobrevin alpha	May be involved in the formation and stability of synapses as well as being involved in the clustering of nicotinic acetylcholine receptors.
SGCA	Alpha-sarcoglycan	Component of the sarcoglycan complex, a subcomplex of the dystrophin-glycoprotein complex which forms a link between the F-actin cytoskeleton and the extracellular matrix.
SGCD	Delta-sarcoglycan	Component of the sarcoglycan complex, a subcomplex of the dystrophin-glycoprotein complex which forms a link between the F-actin cytoskeleton and the extracellular matrix.
TTN	Titin	Key component in the assembly and functioning of vertebrate striated muscles.
CAPN3	Calpain-3	Calcium-regulated non-lysosomal thiol-protease.
TP63	Tumor protein 63	Acts as a sequence specific DNA binding transcriptional activator or repressor.
SELENON	Selenoprotein N	Plays an important role in cell protection against oxidative stress and in the regulation of redox-related calcium homeostasis.
FKRP	Ribitol 5-phosphate transferase FKRP	Catalyzes the transfer of a ribitol 5-phosphate from CDP-L-ribitol to the ribitol 5-phosphate previously attached by FKTN/fukutin to the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phos…
CHKB	Choline/ethanolamine kinase	Has a key role in phospholipid metabolism, and catalyzes the first step of phosphatidylethanolamine and phosphatidylcholine biosynthesis.
POMT2	Protein O-mannosyl-transferase 2	Transfers mannosyl residues to the hydroxyl group of serine or threonine residues.
COL6A2	Collagen alpha-2(VI) chain	Collagen VI acts as a cell-binding protein.
COL6A3	Collagen alpha-3(VI) chain	Collagen VI acts as a cell-binding protein.
GMPPB	Mannose-1-phosphate guanylyltransferase catalytic subunit beta	Catalytic subunit of the GMPPA-GMPPB mannose-1-phosphate guanylyltransferase complex.
TRAPPC11	Trafficking protein particle complex subunit 11	Involved in endoplasmic reticulum to Golgi apparatus trafficking at a very early stage.
ANO5	Anoctamin-5	Plays a role in plasma membrane repair in a process involving annexins.
SMCHD1	Structural maintenance of chromosomes flexible hinge domain-containing protein 1	Non-canonical member of the structural maintenance of chromosomes (SMC) protein family that plays a key role in epigenetic silencing by regulating chromatin architecture.
DMD	Dystrophin	Anchors the extracellular matrix to the cytoskeleton via F-actin.
DYSF	Dysferlin	Key calcium ion sensor involved in the Ca(2+)-triggered synaptic vesicle-plasma membrane fusion.
CRPPA	D-ribitol-5-phosphate cytidylyltransferase	Cytidylyltransferase required for protein O-linked mannosylation.
GAA	Lysosomal alpha-glucosidase	Essential for the degradation of glycogen in lysosomes.
GOSR2	Golgi SNAP receptor complex member 2	Involved in transport of proteins from the cis/medial-Golgi to the trans-Golgi network.
HMGCR	3-hydroxy-3-methylglutaryl-coenzyme A reductase	Catalyzes the conversion of (3S)-hydroxy-3-methylglutaryl-CoA (HMG-CoA) to mevalonic acid, the rate-limiting step in the synthesis of cholesterol and other isoprenoids, thus plays a critical role in cellular cholesterol homeostasis.
LAMA2	Laminin subunit alpha-2	Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components.
LARGE1	Xylosyl- and glucuronyltransferase LARGE1	Bifunctional glycosyltransferase with both alpha-1,3-xylosyltransferase and beta-1,3-glucuronyltransferase activities involved in the maturation of alpha-dystroglycan (DAG1) by glycosylation leading to DAG1 binding to laminin G-like domain…
LMNA	Prelamin-A/C	Lamins are intermediate filament proteins that assemble into a filamentous meshwork, and which constitute the major components of the nuclear lamina, a fibrous layer on the nucleoplasmic side of the inner nuclear membrane.
MYH2	Myosin-2	Myosins are actin-based motor molecules with ATPase activity essential for muscle contraction.
NEB	Nebulin	This giant muscle protein may be involved in maintaining the structural integrity of sarcomeres and the membrane system associated with the myofibrils.
PMM2	Phosphomannomutase 2	Involved in the synthesis of the GDP-mannose and dolichol-phosphate-mannose required for a number of critical mannosyl transfer reactions.
PSMB4	Proteasome subunit beta type-4	Non-catalytic component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins.

Protein-family classification

Druggable: 11 · Difficult: 5 · Unknown: 16 · Druggable fraction: 0.34

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
Enzyme (other)	7	2.6×	0.102
Kinase	2	1.7×	0.800
Protease	1	1.1×	0.800
Scaffold/PPI	2	1.1×	0.800
Antibody/Immunoglobulin	1	0.9×	0.800
Other/Unknown	16	0.9×	0.800
Transcription factor	3	0.8×	0.800

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
MAMDC2	Other/Unknown	no		MAM_dom, ConA-like_dom_sf, MAM_domain-containing
DTNA	Transcription factor	no		Znf_ZZ, EF-hand-dom_pair, EF-hand_dom_typ1
SGCA	Other/Unknown	no		Cadg, Sarcoglycan_alpha/epsilon, Cadherin-like_sf
SGCD	Other/Unknown	no		Sarcoglycan, Sarcoglycan_gamma/delta/zeta
TTN	Kinase	yes	2.7.11.1	Prot_kinase_dom, Ig_sub2, Ig_sub
CAPN3	Protease	yes	3.4.22.54	Pept_cys_AS, Peptidase_C2_calpain_cat, EF_hand_dom
TP63	Transcription factor	no		SAM, p53_tumour_suppressor, p53-like_TF_DNA-bd_sf
SELENON	Other/Unknown	no		EF_hand_dom
FKRP	Other/Unknown	no		LicD/FKTN/FKRP_NTP_transf, LicD_transferase, FKRP_N
CHKB	Kinase	yes	2.7.1.32	Kinase-like_dom_sf
POMT2	Enzyme (other)	yes	2.4.1.109	ArnT-like_N, MIR_motif, PMT-like
COL6A2	Other/Unknown	no		VWF_A, Collagen, vWFA_dom_sf
COL6A3	Antibody/Immunoglobulin	yes		VWF_A, Kunitz_BPTI, FN3_dom
GMPPB	Enzyme (other)	yes	2.7.7.13	NTP_transferase_dom, Hexapep_transf_CS, Nucleotide-diphossugar_trans
TRAPPC11	Other/Unknown	no		TPC11, TRAPPC11_C
ANO5	Other/Unknown	no		Anoctamin, Anoct_dimer, Anoctamin_TM
SMCHD1	Other/Unknown	no		SMC_hinge, SMC_hinge_sf, HATPase_C_sf
DMD	Transcription factor	no		Znf_ZZ, WW_dom, Actinin_actin-bd_CS
DYSF	Other/Unknown	no		C2_dom, Peroxin/Ferlin, Ferlin_A-domain
LRRC37A2	Other/Unknown	no		Leu-rich_rpt, Leu-rich_rpt_typical-subtyp, LRRC37
DTHD1	Other/Unknown	no		Death_dom, ZU5_dom, DEATH-like_dom_sf
CRPPA	Enzyme (other)	yes	2.7.7.40	ISPD_synthase_CS, Nucleotide-diphossugar_trans, IspD/TarI
GAA	Enzyme (other)	yes	3.2.1.20	Glyco_hydro_31_TIM, P_trefoil_dom, Gal_mutarotase_sf_dom
GOSR2	Other/Unknown	no		SNARE, GOSR2/Membrin/Bos1, v-SNARE_N_sf
HMGCR	Enzyme (other)	yes	1.1.1.34	SSD, HMG_CoA_Rdtase, HMG_CoA_Rdtase_eu_arc
LAMA2	Other/Unknown	no		Laminin_IV, EGF, Laminin_G
LARGE1	Enzyme (other)	yes	2.4.1.B80	Glyco_trans_8, Nucleotide-diphossugar_trans, Xyl/GlcA_transferase
LMNA	Other/Unknown	no		Lamin_tail_dom, IF_conserved, Lamin_tail_dom_sf
MYH2	Scaffold/PPI	no		IQ_motif_EF-hand-BS, Myosin_head_motor_dom-like, Myosin_tail
NEB	Scaffold/PPI	no		Nebulin_repeat, SH3_domain, Nebulin-like
PMM2	Enzyme (other)	yes	5.4.2.8	PMM, HAD-SF_hydro_IIB, HAD_sf
PSMB4	Other/Unknown	no		Proteasome_sua/b, Proteasome_bsu_CS, Proteasome_beta4

Expression context

Cohort genes with no expression data: 0.

29 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)	32
unknown	0

Top tissues across cohort

Tissue	Cohort genes
calcaneal tendon	5
hindlimb stylopod muscle	4
skeletal muscle tissue of rectus abdominis	4
right testis	4
mucosa of stomach	3
left ventricle myocardium	3
biceps brachii	3
stromal cell of endometrium	3
left testis	3
C1 segment of cervical spinal cord	2
apex of heart	2
gluteal muscle	2
skeletal muscle tissue of biceps brachii	2
skin of hip	2
ventricular zone	2
cardiac muscle of right atrium	2
adenohypophysis	2
granulocyte	2
body of pancreas	2
adrenal tissue	2

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
MAMDC2	221	ubiquitous	marker	mucosa of stomach, synovial joint, lower lobe of lung
DTNA	266	ubiquitous	marker	medial globus pallidus, globus pallidus, C1 segment of cervical spinal cord
SGCA	190	broad	marker	hindlimb stylopod muscle, gastrocnemius, apex of heart
SGCD	247	broad	marker	left ventricle myocardium, skeletal muscle tissue of rectus abdominis, heart right ventricle
TTN	223	broad	marker	biceps brachii, gluteal muscle, skeletal muscle tissue of biceps brachii
CAPN3	134	broad	marker	hindlimb stylopod muscle, skeletal muscle tissue, C1 segment of cervical spinal cord
TP63	207	broad	marker	upper leg skin, skin of hip, upper arm skin
SELENON	244	ubiquitous	marker	stromal cell of endometrium, ventricular zone, ganglionic eminence
FKRP	230	ubiquitous	marker	left ventricle myocardium, cardiac muscle of right atrium, hindlimb stylopod muscle
CHKB	134	ubiquitous	marker	pituitary gland, granulocyte, adenohypophysis
POMT2	222	ubiquitous	yes	right testis, left testis, testis
COL6A2	263	ubiquitous	marker	stromal cell of endometrium, right coronary artery, descending thoracic aorta
COL6A3	264	broad	marker	stromal cell of endometrium, visceral pleura, skin of hip
GMPPB	172	ubiquitous	marker	body of pancreas, adenohypophysis, mucosa of transverse colon
TRAPPC11	277	ubiquitous	marker	calcaneal tendon, adrenal tissue, primordial germ cell in gonad
ANO5	220	broad	marker	cardiac muscle of right atrium, left ventricle myocardium, vastus lateralis
SMCHD1	290	ubiquitous	marker	calcaneal tendon, colonic epithelium, blood
DMD	295	ubiquitous	marker	trigeminal ganglion, skeletal muscle tissue of rectus abdominis, dorsal root ganglion
DYSF	257	ubiquitous	marker	blood, hindlimb stylopod muscle, skeletal muscle tissue of rectus abdominis
LRRC37A2	134		yes	right uterine tube, right testis, cerebellar hemisphere
DTHD1	128	tissue_specific	marker	right uterine tube, olfactory segment of nasal mucosa, bronchial epithelial cell
CRPPA	134	ubiquitous	yes	corpus callosum, male germ line stem cell (sensu Vertebrata) in testis, calcaneal tendon
GAA	261	ubiquitous	marker	granulocyte, left testis, right testis
GOSR2	289	ubiquitous	marker	buccal mucosa cell, left testis, right testis
HMGCR	286	ubiquitous	marker	adrenal tissue, ventricular zone, cortical plate
LAMA2	272	ubiquitous	marker	mucosa of stomach, calcaneal tendon, right ovary
LARGE1	233	tissue_specific	marker	heart left ventricle, cardiac ventricle, apex of heart
LMNA	295	ubiquitous	marker	nipple, mucosa of stomach, skin of abdomen
MYH2	163	tissue_specific	marker	skeletal muscle tissue of rectus abdominis, biceps brachii, skeletal muscle tissue of biceps brachii
NEB	204	tissue_specific	marker	gluteal muscle, tibialis anterior, biceps brachii

Protein interactions among cohort

Intra-cohort edges: 48.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
LMNA	7,173
HMGCR	5,062
TTN	4,237
PSMB4	3,606
TP63	2,893
COL6A2	2,786
LAMA2	2,688
GMPPB	2,559
DMD	2,479
COL6A3	2,267

Intra-cohort edges

A	B	Sources
ANO5	DYSF	string_interaction
ANO5	FKRP	string_interaction
ANO5	POMT2	string_interaction
ANO5	SGCA	string_interaction
ANO5	SGCD	string_interaction
CAPN3	DMD	string_interaction
CAPN3	DYSF	string_interaction
CAPN3	FKRP	string_interaction
CAPN3	TTN	biogrid_interaction, intact, string_interaction
COL6A2	COL6A3	string_interaction
COL6A2	DMD	string_interaction
COL6A3	DYSF	intact
CRPPA	FKRP	string_interaction
CRPPA	GMPPB	string_interaction
CRPPA	LARGE1	string_interaction
CRPPA	POMT2	string_interaction
DMD	DTNA	biogrid_interaction, intact, string_interaction
DMD	DYSF	string_interaction
DMD	LAMA2	string_interaction
DMD	NEB	string_interaction
DMD	SGCA	string_interaction
DMD	SGCD	string_interaction
DTNA	SGCA	string_interaction
DTNA	SGCD	string_interaction
DYSF	FKRP	string_interaction
DYSF	LAMA2	string_interaction
DYSF	NEB	biogrid_interaction, intact
DYSF	SGCA	string_interaction
DYSF	SGCD	string_interaction
DYSF	TTN	biogrid_interaction, intact
FKRP	GMPPB	string_interaction
FKRP	LAMA2	string_interaction
FKRP	LARGE1	string_interaction
FKRP	POMT2	string_interaction
FKRP	SGCA	string_interaction
GMPPB	LARGE1	string_interaction
GMPPB	POMT2	string_interaction
GMPPB	TRAPPC11	string_interaction
GOSR2	TRAPPC11	string_interaction
LAMA2	POMT2	string_interaction
LAMA2	SELENON	string_interaction
LAMA2	SGCA	string_interaction
LAMA2	SGCD	string_interaction
LARGE1	POMT2	string_interaction
LMNA	SGCD	string_interaction
MYH2	TTN	string_interaction
NEB	TTN	intact, string_interaction
SGCA	SGCD	string_interaction

Structural data

PDB: 22 · AlphaFold-only: 10 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
PSMB4	P28070	146
TTN	Q8WZ42	64
LMNA	P02545	28
TP63	Q9H3D4	26
HMGCR	P04035	24
GAA	P10253	19
DYSF	O75923	11
FKRP	Q9H9S5	8
PMM2	O15305	7
COL6A3	P12111	6
DMD	P11532	6
CAPN3	P20807	5
LARGE1	O95461	4
CHKB	Q9Y259	3
GMPPB	Q9Y5P6	3
NEB	P20929	3
LAMA2	P24043	2
DTNA	Q9Y4J8	1
COL6A2	P12110	1
SMCHD1	A6NHR9	1
CRPPA	A4D126	1
GOSR2	O14653	1

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
POMT2	Q9UKY4	87.96
TRAPPC11	Q7Z392	87.76
MAMDC2	Q7Z304	84.97
ANO5	Q75V66	82.22
SGCD	Q92629	81.43
SGCA	Q16586	80.15
MYH2	Q9UKX2	73.51
DTHD1	Q6ZMT9	69.99
LRRC37A2	A6NM11	42.32
SELENON	Q9NZV5

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 175. Enrichment computed across 32 evidence-associated genes (27 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 27 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Formation of the dystrophin-glycoprotein complex (DGC)	5	57.2×	4e-06	SGCA, SGCD, DMD, DTNA, LAMA2
Matriglycan biosynthesis on DAG1	3	90.6×	4e-04	FKRP, CRPPA, LARGE1
Non-integrin membrane-ECM interactions	4	22.9×	0.001	SGCA, SGCD, DMD, LAMA2
Synthesis of GDP-mannose	2	141.0×	0.003	GMPPB, PMM2
Striated Muscle Contraction	3	34.3×	0.003	TTN, DMD, NEB
ECM proteoglycans	3	16.7×	0.020	COL6A2, COL6A3, LAMA2
Extracellular matrix organization	4	9.3×	0.020	SGCA, SGCD, CAPN3, LAMA2
Defective PMM2 causes PMM2-CDG	1	423.0×	0.047	PMM2
EGR2 and SOX10-mediated initiation of Schwann cell myelination	2	27.3×	0.047	HMGCR, LAMA2
Glycogen storage diseases	1	211.5×	0.065	GAA
Glycogen storage disease type II (GAA)	1	211.5×	0.065	GAA
Breakdown of the nuclear lamina	1	141.0×	0.065	LMNA
Defective LARGE causes MDDGA6 and MDDGB6	1	141.0×	0.065	LARGE1
Defective POMT2 causes MDDGA2, MDDGB2 and MDDGC2	1	141.0×	0.065	POMT2
Defective POMT1 causes MDDGA1, MDDGB1 and MDDGC1	1	141.0×	0.065	POMT2
Collagen chain trimerization	2	19.2×	0.065	COL6A2, COL6A3
Signaling by PDGF	2	18.8×	0.065	COL6A2, COL6A3
NCAM1 interactions	2	18.4×	0.065	COL6A2, COL6A3
XBP1(S) activates chaperone genes	2	16.0×	0.065	GOSR2, LMNA
Assembly of collagen fibrils and other multimeric structures	2	14.8×	0.069	COL6A2, COL6A3
DAG1 core M1 glycosylations	1	105.7×	0.079	POMT2
Collagen degradation	2	13.0×	0.081	COL6A2, COL6A3
Collagen biosynthesis and modifying enzymes	2	12.6×	0.082	COL6A2, COL6A3
DAG1 core M2 glycosylations	1	84.6×	0.086	POMT2
DAG1 core M3 glycosylations	1	70.5×	0.095	POMT2
Glycogen metabolism	1	70.5×	0.095	GAA
Integrin cell surface interactions	2	9.9×	0.110	COL6A2, COL6A3
Activation of PUMA and translocation to mitochondria	1	42.3×	0.146	TP63
TP53 Regulates Transcription of Caspase Activators and Caspases	1	35.2×	0.157	TP63
TP53 Regulates Transcription of Death Receptors and Ligands	1	35.2×	0.157	TP63

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 30 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
muscle organ development	9	50.1×	3e-11	SGCA, SGCD, CAPN3, CHKB, COL6A3, DMD, LAMA2, LMNA (+1 more)
protein O-linked glycosylation via mannose	4	124.8×	4e-06	FKRP, POMT2, CRPPA, LARGE1
muscle cell cellular homeostasis	4	86.4×	1e-05	CAPN3, DMD, GAA, LARGE1
striated muscle contraction	3	84.3×	5e-04	TTN, DTNA, LARGE1
obsolete GDP-mannose biosynthetic process from mannose	2	374.5×	6e-04	GMPPB, PMM2
diaphragm contraction	2	280.9×	6e-04	SELENON, GAA
connective tissue development	2	280.9×	6e-04	FKRP, LARGE1
cardiac muscle cell development	3	62.4×	6e-04	SGCD, TTN, LARGE1
muscle contraction	4	27.7×	6e-04	SGCA, TTN, FKRP, MYH2
basement membrane organization	3	51.1×	9e-04	FKRP, POMT2, LARGE1
GDP-mannose biosynthetic process	2	187.2×	0.001	GMPPB, PMM2
localization of cell	2	187.2×	0.001	FKRP, LARGE1
cardiac muscle contraction	3	40.1×	0.001	TTN, DMD, GAA
reactive gliosis	2	160.5×	0.001	POMT2, LARGE1
isoprenoid biosynthetic process	2	112.3×	0.003	CRPPA, HMGCR
skeletal muscle fiber differentiation	2	112.3×	0.003	FKRP, LARGE1
synaptic signaling	2	102.1×	0.003	DMD, DTNA
muscle filament sliding	2	70.2×	0.006	TTN, MYH2
neuromuscular process controlling posture	2	70.2×	0.006	GAA, LARGE1
phosphatidylinositol 3-kinase/protein kinase B signal transduction	3	21.1×	0.006	FKRP, COL6A2, COL6A3
skeletal muscle tissue regeneration	2	59.1×	0.008	FKRP, LARGE1
neuron apoptotic process	3	18.5×	0.008	TP63, COL6A2, COL6A3
dentate gyrus development	2	41.6×	0.014	POMT2, LARGE1
protein tetramerization	2	41.6×	0.014	TP63, FKRP
neuromuscular synaptic transmission	2	40.1×	0.014	DTNA, LARGE1
maltose metabolic process	1	561.7×	0.015	GAA
monocyte activation involved in immune response	1	561.7×	0.015	DYSF
sucrose metabolic process	1	561.7×	0.015	GAA
ectoderm and mesoderm interaction	1	561.7×	0.015	TP63
epidermal cell division	1	561.7×	0.015	TP63

Therapeutics

Drugs indicated for this disease

5 approved, 2 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

Drug	Development status
Casimersen	Approved (phase 4)
Deflazacort	Approved (phase 4)
Eteplirsen	Approved (phase 4)
Golodirsen	Approved (phase 4)
Viltolarsen	Approved (phase 4)
Drisapersen	Phase 3 (in late-stage trials)
Metformin	Phase 3 (in late-stage trials)

Drug target analysis

Approved (phase 4): 4 · Phase ≥3: 5 · Phased (≥1): 6 · Undrugged: 26

Druggability breadth: 14 of 32 evidence-associated genes (44%) 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
GAA	DIENESTROL
HMGCR	SIMVASTATIN
LMNA	BEPRIDIL
PSMB4	BORTEZOMIB

Top cohort targets by molecule count

Symbol	Molecules	Max phase
LMNA	823	4
GAA	112	4
HMGCR	15	4
PSMB4	5	4
SMCHD1	1	2
PMM2	1	3
MAMDC2	0	0
DTNA	0	0
SGCA	0	0
SGCD	0	0

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
DIENESTROL	4	GAA, LMNA
MIGLUSTAT	4	GAA
DICLOFENAC SODIUM	4	GAA
DIBUCAINE	4	GAA, LMNA
AMLEXANOX	4	GAA
MIGALASTAT	4	GAA
ARIPIPRAZOLE	4	GAA
DULOXETINE	4	GAA
LABETALOL HYDROCHLORIDE	4	GAA, LMNA
MORICIZINE HYDROCHLORIDE	4	GAA, LMNA
PHENYLEPHRINE HYDROCHLORIDE	4	GAA, LMNA
DEMECLOCYCLINE HYDROCHLORIDE	4	GAA
DOXAZOSIN MESYLATE	4	GAA, LMNA
PRILOCAINE HYDROCHLORIDE	4	GAA, LMNA
FLUOROMETHOLONE	4	GAA
PHENELZINE SULFATE	4	GAA, LMNA
RABEPRAZOLE SODIUM	4	GAA
METHYSERGIDE MALEATE	4	GAA
ACRISORCIN	4	GAA
ECONAZOLE NITRATE	4	GAA, LMNA
ISOETHARINE MESYLATE	4	GAA, LMNA
QUINESTROL	4	GAA, LMNA
DEFEROXAMINE MESYLATE	4	GAA, LMNA
MAPROTILINE HYDROCHLORIDE	4	GAA, LMNA
EPINEPHRINE BITARTRATE	4	GAA
PROCHLORPERAZINE MALEATE	4	GAA, LMNA
IRBESARTAN	4	GAA, LMNA
OXYTETRACYCLINE	4	GAA
DOPAMINE HYDROCHLORIDE	4	GAA, LMNA
PRAZOSIN HYDROCHLORIDE	4	GAA, LMNA

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 10.

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

Symbol	Assays	Type breakdown
GAA	280	Binding:267, Functional:13
PSMB4	171	Binding:162, ADMET:6, Functional:3
HMGCR	153	Binding:148, Functional:5
LMNA	12	Binding:9, Functional:3
CHKB	11	Binding:11
SMCHD1	7	Binding:7
PMM2	3	Binding:3
LARGE1	2	Functional:2
TTN	1	Binding:1
MYH2	1	Binding:1

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
TTN	2.7.11.1	non-specific serine/threonine protein kinase
CAPN3	3.4.22.54, 3.4.22.56	calpain-3, caspase-3
CHKB	2.7.1.32	choline kinase
POMT2	2.4.1.109	dolichyl-phosphate-mannose-protein mannosyltransferase
GMPPB	2.7.7.13	mannose-1-phosphate guanylyltransferase
CRPPA	2.7.7.40	D-ribitol-5-phosphate cytidylyltransferase
GAA	3.2.1.20	alpha-glucosidase
HMGCR	1.1.1.34	hydroxymethylglutaryl-CoA reductase (NADPH)
LARGE1	2.4.1.B80, 2.4.2.B18	,
PMM2	5.4.2.8	phosphomannomutase

Cohort genes with high screening signal

≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.

Symbol	ChEMBL assays
GAA	280
HMGCR	153
PSMB4	171

Pharmacogenomics

Cohort genes with a PharmGKB record: 32; with CPIC/DPWG dosing guidelines: 1.

Cohort genes with a CPIC/DPWG dosing guideline

Symbol	CPIC guidelines
HMGCR	1

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)
DIENESTROL	4	GAA, LMNA
MIGLUSTAT	4	GAA
DICLOFENAC SODIUM	4	GAA
DIBUCAINE	4	GAA, LMNA
AMLEXANOX	4	GAA
MIGALASTAT	4	GAA
ARIPIPRAZOLE	4	GAA
DULOXETINE	4	GAA
LABETALOL HYDROCHLORIDE	4	GAA, LMNA
MORICIZINE HYDROCHLORIDE	4	GAA, LMNA
PHENYLEPHRINE HYDROCHLORIDE	4	GAA, LMNA
DEMECLOCYCLINE HYDROCHLORIDE	4	GAA
DOXAZOSIN MESYLATE	4	GAA, LMNA
PRILOCAINE HYDROCHLORIDE	4	GAA, LMNA
FLUOROMETHOLONE	4	GAA
PHENELZINE SULFATE	4	GAA, LMNA
RABEPRAZOLE SODIUM	4	GAA
METHYSERGIDE MALEATE	4	GAA
ACRISORCIN	4	GAA
ECONAZOLE NITRATE	4	GAA, LMNA
ISOETHARINE MESYLATE	4	GAA, LMNA
QUINESTROL	4	GAA, LMNA
DEFEROXAMINE MESYLATE	4	GAA, LMNA
MAPROTILINE HYDROCHLORIDE	4	GAA, LMNA
EPINEPHRINE BITARTRATE	4	GAA
PROCHLORPERAZINE MALEATE	4	GAA, LMNA
IRBESARTAN	4	GAA, LMNA
OXYTETRACYCLINE	4	GAA
DOPAMINE HYDROCHLORIDE	4	GAA, LMNA
PRAZOSIN HYDROCHLORIDE	4	GAA, LMNA

Druggability pyramid

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

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	4	GAA, HMGCR, LMNA, PSMB4
B	Phased (≥1) drug, not yet approved	2	SMCHD1, PMM2
C	Druggable family + PDB, no drug	7	TTN, CAPN3, CHKB, COL6A3, GMPPB, CRPPA, LARGE1
D	Druggable family + AlphaFold only, no drug	1	POMT2
E	Difficult family or no structure, no drug	18	MAMDC2, DTNA, SGCA, SGCD, TP63, SELENON, FKRP, COL6A2, TRAPPC11, ANO5 (+8 more)

Undrugged target profiles

26 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Symbol	ChEMBL assays	Drugged partners (top 3)
MAMDC2	0	—
DTNA	0	—
SGCA	0	—
SGCD	0	—
TTN	1	—
CAPN3	0	—
TP63	0	—
SELENON	0	—
FKRP	0	—
CHKB	11	—
POMT2	0	—
COL6A2	0	—
COL6A3	0	—
GMPPB	0	—
TRAPPC11	0	—
ANO5	0	—
DMD	0	—
DYSF	0	—
LRRC37A2	0	—
DTHD1	0	—
CRPPA	0	—
GOSR2	0	—
LAMA2	0	—
LARGE1	2	—
MYH2	1	—
NEB	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 130.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	96
PHASE3	11
PHASE2	8
PHASE1	8
PHASE1/PHASE2	5
PHASE4	1
EARLY_PHASE1	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT01882400	PHASE4	COMPLETED	Assessment of Response to Treatment of Osteoporosis With Oral Bisphosphonates in Patients With Muscular Dystrophy
NCT05126758	PHASE3	ACTIVE_NOT_RECRUITING	A Study of Deramiocel (CAP-1002) in Ambulatory and Non-Ambulatory Patients With Duchenne Muscular Dystrophy
NCT07587242	PHASE3	NOT_YET_RECRUITING	A Phase 3 Study to Evaluate the Safety and Efficacy of AOC 1044 (Also Referred to as Delpacibart Zotadirsen) in Participants With DMD With Gene Mutations Amenable to Exon 44 Skipping
NCT07608432	PHASE3	RECRUITING	Efficacy, Safety, and Tolerability of Zeleciment Rostudirsen (DYNE-251) Administered Intravenously Every 4 Weeks in Ambulatory Participants With Duchenne Muscular Dystrophy (FORZETTO)
NCT01254019	PHASE3	COMPLETED	A Clinical Study to Assess the Efficacy and Safety of GSK2402968 in Subjects With Duchenne Muscular Dystrophy
NCT01480245	PHASE3	TERMINATED	Open Label Study of GSK2402968 in Subjects With Duchenne Muscular Dystrophy
NCT01803412	PHASE3	TERMINATED	A Study of the Safety, Tolerability & Efficacy of Long-term Administration of Drisapersen in US & Canadian Subjects
NCT01826487	PHASE3	COMPLETED	Phase 3 Study of Ataluren in Participants With Nonsense Mutation Duchenne Muscular Dystrophy (nmDMD)
NCT01890798	PHASE3	WITHDRAWN	Drisapersen Duchenne Muscular Dystrophy (DMD) Treatment Protocol
NCT02090959	PHASE3	TERMINATED	An Extension Study of Ataluren (PTC124) in Participants With Nonsense Mutation Dystrophinopathy
NCT02432885	PHASE3	COMPLETED	Myocardial Fibrosis Progression in Duchenne and Becker Muscular Dystrophy - ACE Inhibitor Therapy Trial
NCT03179631	PHASE3	COMPLETED	Long-Term Outcomes of Ataluren in Duchenne Muscular Dystrophy
NCT05230459	PHASE1/PHASE2	RECRUITING	A Study to Evaluate the Safety of AB-1003 (Previously LION-101) in Subjects With Genetic Confirmation of LGMD2I/R9 (Part1)
NCT06290713	PHASE2	RECRUITING	Vasodilator and Exercise Study for DMD (VASO-REx)
NCT06547216	PHASE2	ACTIVE_NOT_RECRUITING	Phase 2 Open-label Extension Study of AOC 1020 in Participants With Facioscapulohumeral Muscular Dystrophy (FSHD)
NCT07287189	PHASE2	RECRUITING	Phase 2 Study of SAT-3247 in Pediatric Ambulatory Patients
NCT01153932	PHASE2	COMPLETED	Phase II Doubleblind Exploratory Study of GSK2402968 in Ambulant Subjects With Duchenne Muscular Dystrophy
NCT01462292	PHASE2	COMPLETED	A Clinical Study to Assess Two Doses of GSK2402968 in Subjects With Duchenne Muscular Dystrophy (DMD)
NCT01834040	PHASE1/PHASE2	UNKNOWN	Study Safety and Efficacy of BMMNC for the Patient With Duchenne Muscular Dystrophy
NCT01834066	PHASE1/PHASE2	UNKNOWN	Study Safety and Efficacy of Bone Marrow Derived Autologous Cells for the Treatment of Muscular Dystrophy.
NCT01910649	PHASE2	TERMINATED	A Phase I/II, Open Label, Escalating Dose, Pilot Study to Assess Effect, Safety, Tolerability and PK of Multiple SC Doses of Drisapersen in Patients With Duchenne Muscular Dystrophy and to Assess the Potential for IV Dosing as an Alternative Route of Administration
NCT02515669	PHASE1/PHASE2	TERMINATED	Study of an Investigational Drug, RO7239361 (BMS-986089), in Ambulatory Boys With DMD
NCT03406780	PHASE2	COMPLETED	A Study of CAP-1002 in Ambulatory and Non-Ambulatory Patients With Duchenne Muscular Dystrophy
NCT05479981	PHASE2	COMPLETED	Extension of AOC 1001-CS1 (MARINA) Study in Adult Myotonic Dystrophy Type 1 (DM1) Patients
NCT05747924	PHASE1/PHASE2	COMPLETED	Phase 1/2 Study of AOC 1020 in Participants With Facioscapulohumeral Muscular Dystrophy (FSHD)
NCT00494195	PHASE1	COMPLETED	Gene Transfer Therapy for Treating Children and Adults With Limb Girdle Muscular Dystrophy Type 2D (LGMD2D)
NCT00674843	PHASE1	UNKNOWN	The Efficacy of Using Far Infrared Radiation to Manage Muscular Dystrophies
NCT00873782	PHASE1	COMPLETED	Safety Study of Transvenous Limb Perfusion in Human Muscular Dystrophy
NCT01128855	PHASE1	COMPLETED	A Double-blind, Escalating Dose, Randomized, Placebo-controlled Study Assessing PK, Safety, Tolerability in Non-ambulant DMD Subjects
NCT02241928	PHASE1	WITHDRAWN	Stem Cell Therapy in Muscular Dystrophy
NCT03627494	PHASE1	COMPLETED	First Time in Human (FTIH) Study to Evaluate the Safety, Pharmacokinetics, and Pharmacodynamics of Single and Repeat Doses of GSK3439171A in Healthy Subjects and to Assess Food Effect
NCT05492734	PHASE1	COMPLETED	A Study to Assess the Feasibility of Non-invasive Dried Blood Sampling
NCT05730842	PHASE1	COMPLETED	Absorption, Metabolism, Excretion and Absolute Bioavailability of EDG-5506 in Healthy Volunteers
NCT02653833	EARLY_PHASE1	TERMINATED	The Study of Skeletal Muscle Blood Flow in Becker Muscular Dystrophy
NCT00004568	Not specified	RECRUITING	Study of Inherited Neurological Disorders
NCT00082108	Not specified	RECRUITING	Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Registry
NCT00138931	Not specified	RECRUITING	Genetics of Cardiovascular and Neuromuscular Disease
NCT00313677	Not specified	RECRUITING	Clinical Trial Readiness for the Dystroglycanopathies
NCT00912041	Not specified	RECRUITING	BrainGate2: Feasibility Study of an Intracortical Neural Interface System for Persons With Tetraplegia
NCT01568658	Not specified	ACTIVE_NOT_RECRUITING	Genetic and Physical Study of Childhood Nerve and Muscle Disorders

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
ATALUREN	4	3
ENALAPRIL	4	3
ARTENIMOL	4	1
OXANDROLONE	4	1
DRISAPERSEN	3	7
DOCONEXENT	3	1
MEDRONIC ACID	3	1
TALDEFGROBEP ALFA	3	1
SEVASEMTEN	2	2
DELPACIBART ZOTADIRSEN	2	1
DERAMIOCEL	2	1
ZELECIMENT ROSTUDIRSEN	2	1
CHEMBL139521	0	2