X-linked myotubular myopathy

Summary

X-linked myotubular myopathy (MONDO:0010683) is a disease caused by MTM1 (GenCC Definitive), with 5 cohort genes and 9 clinical trials. Top therapeutic interventions include prednisolone and resamirigene bilparvovec.

At a glance

• Prevalence: 1-9 / 1 000 000 (Europe) [Orphanet-validated]
• Causal gene: MTM1 (GenCC Definitive)
• Cohort genes: 5
• ClinVar variants: 727
• Phenotypes (HPO): 24
• Clinical trials: 9

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Point prevalence	1-9 / 1 000 000	0.2	Europe	Validated
Prevalence at birth	1-9 / 100 000	1	France	Validated

Signs & symptoms

Clinical features (HPO)

24 HPO clinical features (Orphanet curated; top 24 by frequency):

HPO ID	Term	Frequency
HP:0003755	Type 1 fibers relatively smaller than type 2 fibers	Very frequent (80-99%)
HP:0030917	Low APGAR score	Very frequent (80-99%)
HP:0000478	Abnormality of the eye	Frequent (30-79%)
HP:0001319	Neonatal hypotonia	Frequent (30-79%)
HP:0001558	Decreased fetal movement	Frequent (30-79%)
HP:0001561	Polyhydramnios	Frequent (30-79%)
HP:0001622	Premature birth	Frequent (30-79%)
HP:0002033	Poor suck	Frequent (30-79%)
HP:0002090	Pneumonia	Frequent (30-79%)
HP:0002098	Respiratory distress	Frequent (30-79%)
HP:0002205	Recurrent respiratory infections	Frequent (30-79%)
HP:0003687	Centrally nucleated skeletal muscle fibers	Frequent (30-79%)
HP:0004887	Respiratory failure requiring assisted ventilation	Frequent (30-79%)
HP:0006829	Severe muscular hypotonia	Frequent (30-79%)
HP:0008872	Feeding difficulties in infancy	Frequent (30-79%)
HP:0030192	Fatigable weakness of bulbar muscles	Frequent (30-79%)
HP:0030195	Fatigable weakness of swallowing muscles	Frequent (30-79%)
HP:0030319	Weakness of facial musculature	Frequent (30-79%)
HP:0031238	Necklace skeletal muscle fibers	Frequent (30-79%)
HP:0000218	High palate	Occasional (5-29%)
HP:0000268	Dolichocephaly	Occasional (5-29%)
HP:0000276	Long face	Occasional (5-29%)
HP:0001999	Abnormal facial shape	Occasional (5-29%)
HP:0002540	Inability to walk	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	X-linked myotubular myopathy
Mondo ID	MONDO:0010683
OMIM	310400
Orphanet	596
DOID	DOID:0111225
ICD-10-CM	G71.220
NCIT	C118781
SNOMED CT	46804001
UMLS	C0410203
MedGen	98374
GARD	0011925
Is cancer (heuristic)	no

Also known as: centronuclear myopathy, X-linked · CNMX · MTM · myopathy, centronuclear, X-linked · myotubular myopathy, X-linked, X-linked recessive · X-linked centronuclear myopathy · X-linked myotubular myopathy · XLCNM · XLMTM

Data availability: 727 ClinVar variants · 2 ClinGen variant curations · 8 GenCC gene-disease records · 18 cell lines.

Disease family

An umbrella term covering 2 Mondo subtypes.

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › X-linked disease › X-linked myotubular myopathy

Related subtypes (49): X-linked Opitz G/BBB syndrome, X-linked immunoneurologic disorder, X-linked adrenal hypoplasia congenita, X-linked lissencephaly with abnormal genitalia, X-linked severe congenital neutropenia, X-linked distal spinal muscular atrophy type 3, epilepsy, X-linked 1, with variable learning disabilities and behavior disorders, Aland island eye disease, X-linked erythropoietic protoporphyria, X-linked central congenital hypothyroidism with late-onset testicular enlargement, X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome, X-linked acrogigantism due to Xq26 microduplication, Wiskott-Aldrich syndrome, X-linked Alport syndrome, X-linked mandibulofacial dysostosis, X-linked chondrodysplasia punctata, choroideremia, cone dystrophy, X-linked, with tapetal-like sheen, diabetes insipidus, nephrogenic, X-linked, Dyggve-Melchior-Clausen syndrome, X-linked, dyskeratosis congenita, X-linked, X-linked hypohidrotic ectodermal dysplasia, X-linked Ehlers-Danlos syndrome, epidermodysplasia verruciformis, X-linked, exudative vitreoretinopathy 2, X-linked, Aarskog-Scott syndrome, X-linked, hemophilia A, X-linked hydrocephalus with stenosis of the aqueduct of Sylvius, hyper-IgM syndrome type 1, X-linked lymphoproliferative syndrome, macular dystrophy, X-linked, X-linked Emery-Dreifuss muscular dystrophy, X-linked lethal multiple pterygium syndrome, X-linked retinoschisis, spondyloepiphyseal dysplasia tarda, X-linked, X-linked cerebellar ataxia, adrenoleukodystrophy, Charcot-Marie-Tooth disease type X, X-linked dominant disease, X-linked recessive disease, X-linked hypophosphatemic rickets, X-linked sideroblastic anemia 1, X-linked deafness, X-linked cone-rod dystrophy, X-linked congenital stationary night blindness, X-linked congenital hemolytic anemia, X-linked complex neurodevelopmental disorder, X-linked intellectual disability, leukemia, acute, X-linked

Subtypes (2): X-linked myotubular myopathy-abnormal genitalia syndrome, symptomatic form of X-linked centronuclear myopathy in female carriers

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

600 retrieved; paginated sample, class counts are floors:

218 likely benign, 141 pathogenic, 106 uncertain significance, 56 likely pathogenic, 39 benign, 23 conflicting classifications of pathogenicity, 13 pathogenic/likely pathogenic, 4 benign/likely benign

ClinVar	Variant (HGVS)	Gene	Classification	Review
2500781	NM_000252.2(MTM1):c.-76_-11del	LOC130068796	Pathogenic	criteria provided, single submitter
3243921	NC_000023.10:g.(?149613783)(149840068_?)del	MAMLD1	Pathogenic	criteria provided, single submitter
3243933	NC_000023.10:g.(?149613783)(149767170_?)del	MAMLD1	Pathogenic	criteria provided, single submitter
1071778	NM_000252.3(MTM1):c.339T>A (p.Cys113Ter)	MTM1	Pathogenic	criteria provided, single submitter
1072286	NM_000252.3(MTM1):c.1546A>T (p.Lys516Ter)	MTM1	Pathogenic	criteria provided, single submitter
1074917	NM_000252.3(MTM1):c.1459G>T (p.Glu487Ter)	MTM1	Pathogenic	criteria provided, single submitter
1075319	NM_000252.3(MTM1):c.1447G>T (p.Glu483Ter)	MTM1	Pathogenic	criteria provided, multiple submitters, no conflicts
11053	NM_000252.3(MTM1):c.566A>G (p.Asn189Ser)	MTM1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
11054	NM_000252.3(MTM1):c.1190A>G (p.Tyr397Cys)	MTM1	Pathogenic	criteria provided, single submitter
11055	NM_000252.3(MTM1):c.205C>T (p.Arg69Cys)	MTM1	Pathogenic	reviewed by expert panel
11057	NM_000252.3(MTM1):c.141_144del	MTM1	Pathogenic	reviewed by expert panel
11058	NM_000252.3(MTM1):c.1261-10A>G	MTM1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
11059	NM_000252.3(MTM1):c.721C>T (p.Arg241Cys)	MTM1	Pathogenic	criteria provided, multiple submitters, no conflicts
11060	NM_000252.3(MTM1):c.670C>T (p.Arg224Ter)	MTM1	Pathogenic	reviewed by expert panel
11061	NM_000252.3(MTM1):c.605del (p.Leu202fs)	MTM1	Pathogenic	no assertion criteria provided
1301887	NM_000252.3(MTM1):c.63+1G>T	MTM1	Pathogenic	criteria provided, single submitter
1360711	NM_000252.3(MTM1):c.310G>T (p.Glu104Ter)	MTM1	Pathogenic	criteria provided, single submitter
1371544	NM_000252.3(MTM1):c.819_820dup (p.Leu274fs)	MTM1	Pathogenic	criteria provided, single submitter
1379211	NM_000252.3(MTM1):c.548G>A (p.Trp183Ter)	MTM1	Pathogenic	criteria provided, single submitter
1457292	NC_000023.10:g.(?149761067)(149761149_?)del	MTM1	Pathogenic	criteria provided, single submitter
1458095	NM_000252.3(MTM1):c.1008_1009dup (p.Trp337fs)	MTM1	Pathogenic	criteria provided, single submitter
1459032	NM_000252.3(MTM1):c.590C>T (p.Thr197Ile)	MTM1	Pathogenic	criteria provided, single submitter
158893	NM_000252.3(MTM1):c.1053+1G>C	MTM1	Pathogenic	criteria provided, single submitter
158894	NM_000252.3(MTM1):c.1088_1089del (p.Lys363fs)	MTM1	Pathogenic	criteria provided, multiple submitters, no conflicts
158895	NM_000252.3(MTM1):c.109C>T (p.Arg37Ter)	MTM1	Pathogenic	criteria provided, multiple submitters, no conflicts
158896	NM_000252.3(MTM1):c.1120C>G (p.His374Asp)	MTM1	Pathogenic	criteria provided, single submitter
158897	NM_000252.3(MTM1):c.1132G>A (p.Gly378Arg)	MTM1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
158898	NM_000252.3(MTM1):c.1136G>A (p.Trp379Ter)	MTM1	Pathogenic	criteria provided, single submitter
158899	NM_000252.3(MTM1):c.1137G>A (p.Trp379Ter)	MTM1	Pathogenic	criteria provided, single submitter
158900	NM_000252.3(MTM1):c.1139A>T (p.Asp380Val)	MTM1	Pathogenic	criteria provided, single submitter

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 8 · Orphanet: 11 · 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
MTM1	Definitive	X-linked	X-linked myotubular myopathy	8

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
MTM1	Orphanet:456328	X-linked myotubular myopathy-abnormal genitalia syndrome
MTM1	Orphanet:596	X-linked centronuclear myopathy
MAMLD1	Orphanet:456328	X-linked myotubular myopathy-abnormal genitalia syndrome
MAMLD1	Orphanet:95706	Non-syndromic posterior hypospadias
DNM2	Orphanet:100044	Autosomal dominant intermediate Charcot-Marie-Tooth disease type B
DNM2	Orphanet:169189	Autosomal dominant centronuclear myopathy
DNM2	Orphanet:228179	Autosomal dominant Charcot-Marie-Tooth disease type 2M
DNM2	Orphanet:363409	Fetal akinesia-cerebral and retinal hemorrhage syndrome
MYH9	Orphanet:182050	MYH9-related syndromic thrombocytopenia
MYH9	Orphanet:477742	Nodular fasciitis
MYH9	Orphanet:90635	Rare autosomal dominant non-syndromic sensorineural deafness type DFNA

Cohort genes → proteins

5 cohort genes, 5 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	5

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
MTM1	HGNC:7448	ENSG00000171100	Q13496	Myotubularin	gencc,clinvar
CD99L2	HGNC:18237	ENSG00000102181	Q8TCZ2	CD99 antigen-like protein 2	clinvar
MAMLD1	HGNC:2568	ENSG00000013619	Q13495	Mastermind-like domain-containing protein 1	clinvar
DNM2	HGNC:2974	ENSG00000079805	P50570	Dynamin-2	clinvar
MYH9	HGNC:7579	ENSG00000100345	P35579	Myosin-9	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
MTM1	Myotubularin	Lipid phosphatase which dephosphorylates phosphatidylinositol 3-monophosphate (PI3P) and phosphatidylinositol 3,5-bisphosphate (PI(3,5)P2).
CD99L2	CD99 antigen-like protein 2	Plays a role in a late step of leukocyte extravasation helping cells to overcome the endothelial basement membrane.
MAMLD1	Mastermind-like domain-containing protein 1	Transactivates the HES3 promoter independently of NOTCH proteins.
DNM2	Dynamin-2	Catalyzes the hydrolysis of GTP and utilizes this energy to mediate vesicle scission at plasma membrane during endocytosis and filament remodeling at many actin structures during organization of the actin cytoskeleton.
MYH9	Myosin-9	Cellular myosin that appears to play a role in cytokinesis, cell shape, and specialized functions such as secretion and capping.

Protein-family classification

Druggable: 1 · Difficult: 2 · Unknown: 2 · Druggable fraction: 0.2

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
Phosphatase	1	16.8×	0.087
Scaffold/PPI	2	6.9×	0.087
Other/Unknown	2	0.7×	0.877

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
MTM1	Phosphatase	yes	3.1.3.64	Tyr_Pase_dom, Tyr_Pase_cat, GRAM
CD99L2	Other/Unknown	no		CD99L2
MAMLD1	Other/Unknown	no		MAMLD1
DNM2	Scaffold/PPI	no	3.6.5.5	Dynamin_stalk, Dynamin_GTPase, PH_domain
MYH9	Scaffold/PPI	no		IQ_motif_EF-hand-BS, Myosin_head_motor_dom-like, Myosin_tail

Expression context

Cohort genes with no expression data: 0.

5 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)	5
unknown	0

Top tissues across cohort

Tissue	Cohort genes
germinal epithelium of ovary	1
rectum	1
secondary oocyte	1
gastrocnemius	1
prefrontal cortex	1
right frontal lobe	1
male germ line stem cell (sensu Vertebrata) in testis	1
right ovary	1
right testis	1
granulocyte	1
metanephros cortex	1
mucosa of transverse colon	1
ascending aorta	1
stromal cell of endometrium	1
thoracic aorta	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
MTM1	281	ubiquitous	marker	secondary oocyte, rectum, germinal epithelium of ovary
CD99L2	243	ubiquitous	marker	prefrontal cortex, gastrocnemius, right frontal lobe
MAMLD1	197	ubiquitous	marker	male germ line stem cell (sensu Vertebrata) in testis, right ovary, right testis
DNM2	234	ubiquitous	marker	metanephros cortex, granulocyte, mucosa of transverse colon
MYH9	279	ubiquitous	marker	stromal cell of endometrium, ascending aorta, thoracic aorta

Protein interactions among cohort

Intra-cohort edges: 2.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
MYH9	5,533
DNM2	4,715
MTM1	1,415
CD99L2	1,241
MAMLD1	1,220

Intra-cohort edges

A	B	Sources
DNM2	MTM1	string_interaction
MAMLD1	MTM1	string_interaction

Structural data

PDB: 2 · AlphaFold-only: 3 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
MYH9	P35579	8
DNM2	P50570	1

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
MTM1	Q13496	90.10
CD99L2	Q8TCZ2	55.71
MAMLD1	Q13495	44.08

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 88. Enrichment computed across 5 evidence-associated genes (5 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 5 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
NOSTRIN mediated eNOS trafficking	1	456.8×	0.035	DNM2
CD163 mediating an anti-inflammatory response	1	228.4×	0.035	MYH9
Formation of annular gap junctions	1	207.6×	0.035	DNM2
Synthesis of PIPs at the late endosome membrane	1	190.3×	0.035	MTM1
Gap junction degradation	1	190.3×	0.035	DNM2
NOTCH2 intracellular domain regulates transcription	1	190.3×	0.035	MAMLD1
Retrograde neurotrophin signalling	1	163.1×	0.035	DNM2
RUNX3 regulates NOTCH signaling	1	163.1×	0.035	MAMLD1
Synthesis of PIPs at the early endosome membrane	1	142.8×	0.035	MTM1
Regulation of beta-cell development	1	142.8×	0.035	MAMLD1
Signaling by NOTCH2	1	142.8×	0.035	MAMLD1
Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells	1	142.8×	0.035	MAMLD1
Sema4D in semaphorin signaling	1	134.3×	0.035	MYH9
RHO GTPases activate CIT	1	120.2×	0.035	MYH9
RHO GTPases Activate ROCKs	1	120.2×	0.035	MYH9
Sema4D induced cell migration and growth-cone collapse	1	114.2×	0.035	MYH9
NOTCH4 Intracellular Domain Regulates Transcription	1	114.2×	0.035	MAMLD1
RHO GTPases activate PAKs	1	108.8×	0.035	MYH9
Signaling by NOTCH3	1	103.8×	0.035	MAMLD1
Signaling by NOTCH4	1	99.3×	0.035	MAMLD1
NOTCH3 Intracellular Domain Regulates Transcription	1	87.8×	0.035	MAMLD1
Signaling by NOTCH1 PEST Domain Mutants in Cancer	1	81.6×	0.035	MAMLD1
Signaling by NOTCH1 in Cancer	1	81.6×	0.035	MAMLD1
Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer	1	81.6×	0.035	MAMLD1
Notch-HLH transcription pathway	1	81.6×	0.035	MAMLD1
Formation of paraxial mesoderm	1	81.6×	0.035	MAMLD1
Semaphorin interactions	1	78.8×	0.035	MYH9
Anti-inflammatory response favouring Leishmania parasite infection	1	78.8×	0.035	MYH9
Leishmania parasite growth and survival	1	78.8×	0.035	MYH9
EPHA-mediated growth cone collapse	1	76.1×	0.035	MYH9

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 5 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
regulation of vacuole organization	1	3370.4×	0.006	MTM1
uropod organization	1	1685.2×	0.006	MYH9
cortical granule exocytosis	1	1685.2×	0.006	MYH9
vesicle scission	1	1685.2×	0.006	DNM2
negative regulation of membrane tubulation	1	1685.2×	0.006	DNM2
negative regulation of actin filament severing	1	1685.2×	0.006	MYH9
positive regulation of protein processing in phagocytic vesicle	1	1685.2×	0.006	MYH9
positive regulation of T cell extravasation	1	1685.2×	0.006	CD99L2
cytokinetic process	1	1123.5×	0.006	MYH9
actin filament bundle organization	1	1123.5×	0.006	DNM2
membrane tubulation	1	1123.5×	0.006	DNM2
regulation of plasma membrane repair	1	1123.5×	0.006	MYH9
establishment of meiotic spindle localization	1	842.6×	0.007	MYH9
synaptic vesicle budding from presynaptic endocytic zone membrane	1	674.1×	0.007	DNM2
positive regulation of skeletal muscle tissue growth	1	674.1×	0.007	MTM1
diapedesis	1	674.1×	0.007	CD99L2
cytoplasmic actin-based contraction involved in cell motility	1	674.1×	0.007	MYH9
skeletal muscle tissue growth	1	561.7×	0.008	MTM1
meiotic spindle organization	1	481.5×	0.009	MYH9
positive regulation of neutrophil extravasation	1	481.5×	0.009	CD99L2
mitochondrion distribution	1	421.3×	0.009	MTM1
establishment of T cell polarity	1	374.5×	0.010	MYH9
spermatid differentiation	1	337.0×	0.011	MAMLD1
transferrin transport	1	306.4×	0.011	DNM2
blood vessel endothelial cell migration	1	280.9×	0.012	MYH9
regulation of axon extension	1	259.3×	0.012	DNM2
negative regulation of autophagosome assembly	1	259.3×	0.012	MTM1
post-Golgi vesicle-mediated transport	1	210.7×	0.014	DNM2
protein polymerization	1	198.3×	0.014	DNM2
protein transport	2	17.6×	0.014	MTM1, MYH9

Therapeutics

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 1 · Undrugged: 4

Druggability breadth: 2 of 5 evidence-associated genes (40%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
MYH9	1	2
MTM1	0	0
CD99L2	0	0
MAMLD1	0	0
DNM2	0	0

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
MOLIBRESIB	2	MYH9

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 2.

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

Symbol	Assays	Type breakdown
DNM2	15	Binding:15
MYH9	10	Binding:10

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
MTM1	3.1.3.64, 3.1.3.95	phosphatidylinositol-3-phosphatase, phosphatidylinositol-3,5-bisphosphate 3-phosphatase
DNM2	3.6.5.5	dynamin GTPase

Pharmacogenomics

Cohort genes with a PharmGKB record: 5; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

1 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)
MOLIBRESIB	2	MYH9

Druggability pyramid

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

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	0
B	Phased (≥1) drug, not yet approved	1	MYH9
C	Druggable family + PDB, no drug	0
D	Druggable family + AlphaFold only, no drug	1	MTM1
E	Difficult family or no structure, no drug	3	CD99L2, MAMLD1, DNM2

Undrugged target profiles

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

Symbol	ChEMBL assays	Drugged partners (top 3)
MTM1	0	—
CD99L2	0	—
MAMLD1	0	—
DNM2	15	—

Clinical trials & evidence

Clinical trials

Clinical trials: 9.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	6
PHASE1/PHASE2	2
PHASE2/PHASE3	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT03199469	PHASE2/PHASE3	ACTIVE_NOT_RECRUITING	A Study of AT132 in Young Children With X-Linked Myotubular Myopathy (XLMTM)
NCT07052929	PHASE1/PHASE2	RECRUITING	Study of ASP2957 in Male Participants With X-linked Myotubular Myopathy Who Need Ventilators
NCT04915846	PHASE1/PHASE2	TERMINATED	Tamoxifen Therapy for Myotubular Myopathy
NCT04064307	Not specified	RECRUITING	Myotubular and Centronuclear Myopathy Patient Registry
NCT06581146	Not specified	RECRUITING	A Study to Check Liver Health in Boys With XLMTM, a Serious Genetic Muscle Condition
NCT01840657	Not specified	COMPLETED	Myotubular Myopathy Event Study
NCT02453152	Not specified	COMPLETED	Respiratory Muscle Function in Untreated X-Linked Myotubular Myopathy (XLMTM)
NCT02704273	Not specified	COMPLETED	A Clinical Assessment Study in X-Linked Myotubular Myopathy (XLMTM) Subjects
NCT05711771	Not specified	WITHDRAWN	Medication Therapy Management (MTM) for a Medicaid Managed Care Population Within Patient-Centered Medical Homes

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
PREDNISOLONE	4	1
RESAMIRIGENE BILPARVOVEC	2	1