Charcot-Marie-Tooth disease type 1A

Summary

Charcot-Marie-Tooth disease type 1A (MONDO:0007309) is a disease caused by PMP22 (GenCC Definitive), with 6 cohort genes and 14 clinical trials. Top therapeutic interventions include ulipristal acetate.

At a glance

• Prevalence: 1-5 / 10 000 (Worldwide) [Orphanet-validated]
• Causal gene: PMP22 (GenCC Definitive)
• Cohort genes: 6
• ClinVar variants: 50
• Phenotypes (HPO): 20
• Clinical trials: 14

Clinical features

Epidemiology

Prevalence records

3 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Point prevalence	1-5 / 10 000		Worldwide	Validated
Point prevalence	6-9 / 10 000	82.37	Norway	Validated
Point prevalence	1-5 / 10 000	15.2	United Kingdom	Validated

Signs & symptoms

Clinical features (HPO)

20 HPO clinical features (Orphanet curated; top 20 by frequency):

HPO ID	Term	Frequency
HP:0001265	Hyporeflexia	Frequent (30-79%)
HP:0001288	Gait disturbance	Frequent (30-79%)
HP:0001761	Pes cavus	Frequent (30-79%)
HP:0002460	Distal muscle weakness	Frequent (30-79%)
HP:0002936	Distal sensory impairment	Frequent (30-79%)
HP:0003202	Skeletal muscle atrophy	Frequent (30-79%)
HP:0003431	Decreased motor nerve conduction velocity	Frequent (30-79%)
HP:0003448	Decreased sensory nerve conduction velocity	Frequent (30-79%)
HP:0003701	Proximal muscle weakness	Frequent (30-79%)
HP:0007108	Demyelinating peripheral neuropathy	Frequent (30-79%)
HP:0010871	Sensory ataxia	Frequent (30-79%)
HP:0002141	Gait imbalance	Occasional (5-29%)
HP:0002751	Kyphoscoliosis	Occasional (5-29%)
HP:0003401	Paresthesia	Occasional (5-29%)
HP:0007131	Acute demyelinating polyneuropathy	Occasional (5-29%)
HP:0008981	Calf muscle hypertrophy	Occasional (5-29%)
HP:0009113	Diaphragmatic weakness	Occasional (5-29%)
HP:0010833	Spontaneous pain sensation	Occasional (5-29%)
HP:0030834	Shoulder pain	Occasional (5-29%)
HP:0006801	Hyperactive deep tendon reflexes	Very rare (<1-4%)

Identifiers

Disease identifiers

Field	Value
Canonical name	Charcot-Marie-Tooth disease type 1A
Mondo ID	MONDO:0007309
OMIM	118220
Orphanet	101081
DOID	DOID:0110148
NCIT	C75468
UMLS	C0270911
MedGen	75727
GARD	0001245
Is cancer (heuristic)	no

Also known as: Charcot Marie Tooth disease type 1A · Charcot-Marie-Tooth disease type 1A · Charcot-Marie-Tooth disease, demyelinating, type 1A · Charcot-Marie-Tooth disease, type 1A · Charcot-Marie-Tooth syndrome type 1A · CMT 1A · CMT1A · hereditary motor and sensory neuropathy 1A · HMSN 1A · HMSN1A · microduplication 17p12

Data availability: 50 ClinVar variants · 6 GenCC gene-disease records · 36 cell lines.

Disease family

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › chromosomal disorder › syndrome caused by partial chromosomal duplication › partial duplication of chromosome 17 › partial duplication of the short arm of chromosome 17 › Charcot-Marie-Tooth disease type 1A

Related subtypes (3): Potocki-Lupski syndrome, chromosome 17p13.3 duplication syndrome, trisomy 17p

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

50 retrieved; paginated sample, class counts are floors:

22 pathogenic, 12 uncertain significance, 6 likely pathogenic, 4 conflicting classifications of pathogenicity, 3 pathogenic/likely pathogenic, 2 benign/likely benign, 1 not provided

ClinVar	Variant (HGVS)	Gene	Classification	Review
1330204	GRCh37/hg19 17p12(chr17:14096089-15492591)x3	CDRT15	Pathogenic	criteria provided, single submitter
4820244	Single allele	CDRT15	Pathogenic	criteria provided, single submitter
625724	GRCh37/hg19 17p12(chr17:14063251-15449627)	CDRT15	Pathogenic	criteria provided, single submitter
625726	GRCh37/hg19 17p12(chr17:14104012-15422557)	CDRT15	Pathogenic	criteria provided, single submitter
625728	GRCh37/hg19 17p12(chr17:14105874-15611546)	CDRT15	Pathogenic	criteria provided, single submitter
4820236	Single allele	CDRT4	Pathogenic	criteria provided, single submitter
3899836	Single allele	HS3ST3B1	Pathogenic	criteria provided, single submitter
9647	NC_012920.1(MT-ATP6):m.9185T>C	MT-ATP6	Pathogenic	reviewed by expert panel
127097	GRCh38/hg20 17p12(chr17:14170534-15591587)x4	PMP22	Pathogenic	no assertion criteria provided
1349839	NM_000304.4(PMP22):c.68C>A (p.Thr23Lys)	PMP22	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
217238	NM_000304.4(PMP22):c.434del (p.Leu145fs)	PMP22	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2500820	NC_000017.10:g.(?15133094)(15164078_?)dup	PMP22	Pathogenic	criteria provided, single submitter
30158	NM_000304.4(PMP22):c.281del (p.Gly94fs)	PMP22	Pathogenic	criteria provided, multiple submitters, no conflicts
433198	NM_000304.4(PMP22):c.449G>T (p.Gly150Val)	PMP22	Pathogenic	criteria provided, multiple submitters, no conflicts
568922	NM_000304.4(PMP22):c.261_262del (p.Phe88fs)	PMP22	Pathogenic	criteria provided, single submitter
835185	NM_000304.4(PMP22):c.35A>G (p.His12Arg)	PMP22	Pathogenic	criteria provided, multiple submitters, no conflicts
8427	NC_000017.11:g.(?14440201)(15475424_?)dup	PMP22	Pathogenic	no assertion criteria provided
8428	NM_000304.4(PMP22):c.47T>C (p.Leu16Pro)	PMP22	Pathogenic	criteria provided, single submitter
8429	NM_000304.4(PMP22):c.236C>G (p.Ser79Cys)	PMP22	Pathogenic	criteria provided, single submitter
8432	NM_000304.4(PMP22):c.206T>A (p.Met69Lys)	PMP22	Pathogenic	criteria provided, multiple submitters, no conflicts
8433	NM_000304.4(PMP22):c.215C>T (p.Ser72Leu)	PMP22	Pathogenic	criteria provided, multiple submitters, no conflicts
8437	NM_000304.4(PMP22):c.281dup (p.Arg95fs)	PMP22	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
8445	NM_000304.4(PMP22):c.65C>T (p.Ser22Phe)	PMP22	Pathogenic	no assertion criteria provided
977285	NC_000017.11:g.15133096_15164093dup	PMP22	Pathogenic	criteria provided, single submitter
598751	Single allele	TEKT3	Pathogenic	criteria provided, single submitter
4820067	NC_000017.11:g.(?14186441)(15556441_?)dup	CDRT15	Likely pathogenic	criteria provided, single submitter
217236	NM_000304.4(PMP22):c.235T>A (p.Ser79Thr)	PMP22	Likely pathogenic	criteria provided, multiple submitters, no conflicts
3776239	NM_000304.4(PMP22):c.96_102dup (p.Ala35fs)	PMP22	Likely pathogenic	criteria provided, single submitter
3896952	NM_000304.4(PMP22):c.201del (p.Thr68fs)	PMP22	Likely pathogenic	criteria provided, single submitter
448092	NM_000304.4(PMP22):c.431C>G (p.Pro144Arg)	PMP22	Likely pathogenic	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 21 · Orphanet: 14 · 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
PMP22	Definitive	Autosomal dominant	Charcot-Marie-Tooth disease type 1A	21

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
PMP22	Orphanet:101081	Charcot-Marie-Tooth disease type 1A
PMP22	Orphanet:3115	Roussy-Lévy syndrome
PMP22	Orphanet:640	Hereditary neuropathy with liability to pressure palsies
PMP22	Orphanet:64748	Dejerine-Sottas syndrome
PMP22	Orphanet:90658	Charcot-Marie-Tooth disease type 1E
PMP22	Orphanet:98916	Acute inflammatory demyelinating polyradiculoneuropathy
TEKT3	Orphanet:276234	Non-syndromic male infertility due to sperm motility disorder
MT-ATP6	Orphanet:104	Leber hereditary optic neuropathy
MT-ATP6	Orphanet:225154	Familial infantile bilateral striatal necrosis
MT-ATP6	Orphanet:254913	Isolated ATP synthase deficiency
MT-ATP6	Orphanet:255210	Mitochondrial DNA-associated Leigh syndrome
MT-ATP6	Orphanet:320360	MT-ATP6-related mitochondrial spastic paraplegia
MT-ATP6	Orphanet:397750	Periodic paralysis with later-onset distal motor neuropathy
MT-ATP6	Orphanet:644	NARP syndrome

Cohort genes → proteins

6 cohort genes, 6 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	6

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
PMP22	HGNC:9118	ENSG00000109099	Q01453	Peripheral myelin protein 22	gencc,clinvar
TEKT3	HGNC:14293	ENSG00000125409	Q9BXF9	Tektin-3	clinvar
CDRT4	HGNC:14383	ENSG00000239704	Q8N9R6	CMT1A duplicated region transcript 4 protein	clinvar
CDRT15	HGNC:14395	ENSG00000223510	Q96T59	CMT1A duplicated region transcript 15 protein	clinvar
HS3ST3B1	HGNC:5198	ENSG00000125430	Q9Y662	Heparan sulfate glucosamine 3-O-sulfotransferase 3B1	clinvar
MT-ATP6	HGNC:7414	ENSG00000198899	P00846	ATP synthase F(0) complex subunit a	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
PMP22	Peripheral myelin protein 22	Might be involved in growth regulation, and in myelinization in the peripheral nervous system.
TEKT3	Tektin-3	Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia and flagellar axoneme.
HS3ST3B1	Heparan sulfate glucosamine 3-O-sulfotransferase 3B1	Sulfotransferase that utilizes 3’-phospho-5’-adenylyl sulfate (PAPS) to catalyze the transfer of a sulfo group to an N-unsubstituted glucosamine linked to a 2-O-sulfo iduronic acid unit on heparan sulfate.
MT-ATP6	ATP synthase F(0) complex subunit a	Subunit a, of the mitochondrial membrane ATP synthase complex (F(1)F(0) ATP synthase or Complex V) that produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of th…

Protein-family classification

Druggable: 1 · Difficult: 0 · Unknown: 5 · Druggable fraction: 0.17

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
Other/Unknown	5	1.5×	0.348
Enzyme (other)	1	2.0×	0.407

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
PMP22	Other/Unknown	no		PMP22, PMP22/EMP/MP20/Claudin, PMP22_EMP_MP20
TEKT3	Other/Unknown	no		Tektins, Tektin-like
CDRT4	Other/Unknown	no		CDRT4
CDRT15	Other/Unknown	no
HS3ST3B1	Enzyme (other)	yes	2.8.2.30	Sulfotransferase_dom, P-loop_NTPase, NST/OST
MT-ATP6	Other/Unknown	no		ATP_synth_F0_asu, ATP_synth_F0_asu_AS, F0_ATP_A_sf

Expression context

Cohort genes with no expression data: 0.

4 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)	6
unknown	0

Top tissues across cohort

Tissue	Cohort genes
left testis	2
right testis	2
dorsal root ganglion	1
olfactory bulb	1
trigeminal ganglion	1
testis	1
adenohypophysis	1
pituitary gland	1
right uterine tube	1
male germ line stem cell (sensu Vertebrata) in testis	1
epithelium of nasopharynx	1
parotid gland	1
tibia	1
descending thoracic aorta	1
left uterine tube	1
mucosa of stomach	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
PMP22	294	ubiquitous	marker	olfactory bulb, trigeminal ganglion, dorsal root ganglion
TEKT3	164	tissue_specific	marker	left testis, right testis, testis
CDRT4	134	tissue_specific	yes	right uterine tube, pituitary gland, adenohypophysis
CDRT15	127		yes	right testis, male germ line stem cell (sensu Vertebrata) in testis, left testis
HS3ST3B1	206	ubiquitous	marker	tibia, parotid gland, epithelium of nasopharynx
MT-ATP6	134	ubiquitous	marker	mucosa of stomach, left uterine tube, descending thoracic aorta

Protein interactions among cohort

Intra-cohort edges: 5.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
MT-ATP6	2,869
TEKT3	1,469
PMP22	647
HS3ST3B1	459
CDRT4	178
CDRT15	137

Intra-cohort edges

A	B	Sources
CDRT15	CDRT4	string_interaction
CDRT15	HS3ST3B1	string_interaction
CDRT15	TEKT3	string_interaction
CDRT4	HS3ST3B1	string_interaction
CDRT4	TEKT3	string_interaction

Structural data

PDB: 2 · AlphaFold-only: 4 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
MT-ATP6	P00846	10
TEKT3	Q9BXF9	1

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
PMP22	Q01453	89.87
HS3ST3B1	Q9Y662	83.45
CDRT4	Q8N9R6	66.42
CDRT15	Q96T59	52.21

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 11. Enrichment computed across 6 evidence-associated genes (3 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 3 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Formation of ATP by chemiosmotic coupling	1	190.3×	0.024	MT-ATP6
EGR2 and SOX10-mediated initiation of Schwann cell myelination	1	122.8×	0.024	PMP22
HS-GAG biosynthesis	1	115.3×	0.024	HS3ST3B1
Cristae formation	1	115.3×	0.024	MT-ATP6
Mitochondrial biogenesis	1	56.0×	0.039	MT-ATP6
Mitochondrial protein degradation	1	38.1×	0.043	MT-ATP6
Mitochondrial translation termination	1	36.6×	0.043	MT-ATP6
Aerobic respiration and respiratory electron transport	1	29.5×	0.046	MT-ATP6
Organelle biogenesis and maintenance	1	22.0×	0.055	MT-ATP6
Metabolism of proteins	1	4.1×	0.237	MT-ATP6
Metabolism	1	3.9×	0.237	MT-ATP6

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 4 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 brood size	1	4213.0×	0.005	TEKT3
myelin assembly	1	468.1×	0.015	PMP22
bleb assembly	1	383.0×	0.015	PMP22
response to hyperoxia	1	280.9×	0.015	MT-ATP6
glycosaminoglycan biosynthetic process	1	210.7×	0.015	HS3ST3B1
proton motive force-driven ATP synthesis	1	200.6×	0.015	MT-ATP6
cilium movement involved in cell motility	1	168.5×	0.015	TEKT3
peripheral nervous system development	1	145.3×	0.015	PMP22
heparan sulfate proteoglycan biosynthetic process	1	140.4×	0.015	HS3ST3B1
branching involved in ureteric bud morphogenesis	1	91.6×	0.021	HS3ST3B1
proton transmembrane transport	1	78.0×	0.022	MT-ATP6
proton motive force-driven mitochondrial ATP synthesis	1	65.8×	0.024	MT-ATP6
negative regulation of neuron projection development	1	59.3×	0.024	PMP22
flagellated sperm motility	1	29.3×	0.046	TEKT3
chemical synaptic transmission	1	19.3×	0.063	PMP22
cilium assembly	1	18.4×	0.063	TEKT3
negative regulation of cell population proliferation	1	10.5×	0.102	PMP22
cell differentiation	1	7.3×	0.132	PMP22
apoptotic process	1	7.2×	0.132	PMP22

Therapeutics

Drug target analysis

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

Druggability breadth: 2 of 6 evidence-associated genes (33%) 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
PMP22	PROGESTERONE

Top cohort targets by molecule count

Symbol	Molecules	Max phase
PMP22	213	4
TEKT3	0	0
CDRT4	0	0
CDRT15	0	0
HS3ST3B1	0	0
MT-ATP6	0	0

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
PROGESTERONE	4	PMP22
CLOTRIMAZOLE	4	PMP22
OXAPROZIN	4	PMP22
SALMETEROL XINAFOATE	4	PMP22
AMIODARONE HYDROCHLORIDE	4	PMP22
TRIHEXYPHENIDYL HYDROCHLORIDE	4	PMP22
AMOXAPINE	4	PMP22
RALOXIFENE HYDROCHLORIDE	4	PMP22
IDARUBICIN	4	PMP22
OXYBUTYNIN CHLORIDE	4	PMP22
PINACIDIL ANHYDROUS	4	PMP22
NICARDIPINE HYDROCHLORIDE	4	PMP22
PILOCARPINE HYDROCHLORIDE	4	PMP22
PROTRIPTYLINE HYDROCHLORIDE	4	PMP22
BENZTROPINE MESYLATE	4	PMP22
BUSPIRONE HYDROCHLORIDE	4	PMP22
DOBUTAMINE HYDROCHLORIDE	4	PMP22
PROMAZINE HYDROCHLORIDE	4	PMP22
DICYCLOMINE HYDROCHLORIDE	4	PMP22
GUANFACINE HYDROCHLORIDE	4	PMP22
HYDROCORTISONE SODIUM SUCCINATE	4	PMP22
BROMOCRIPTINE MESYLATE	4	PMP22
DIHYDROERGOTAMINE MESYLATE	4	PMP22
DOXAZOSIN MESYLATE	4	PMP22
CYCLOBENZAPRINE HYDROCHLORIDE	4	PMP22
DEXBROMPHENIRAMINE MALEATE	4	PMP22
CLOMIPRAMINE HYDROCHLORIDE	4	PMP22
CHLORMEZANONE	4	PMP22
PROMETHAZINE HYDROCHLORIDE	4	PMP22
CITALOPRAM HYDROBROMIDE	4	PMP22

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 1.

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

Symbol	Assays	Type breakdown
PMP22	1	Functional:1
MT-ATP6	1	Binding:1

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
HS3ST3B1	2.8.2.30	[heparan sulfate]-glucosamine 3-sulfotransferase 3

Pharmacogenomics

Cohort genes with a PharmGKB record: 6; with CPIC/DPWG dosing guidelines: 0.

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

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)
PROGESTERONE	4	PMP22
CLOTRIMAZOLE	4	PMP22
OXAPROZIN	4	PMP22
SALMETEROL XINAFOATE	4	PMP22
AMIODARONE HYDROCHLORIDE	4	PMP22
TRIHEXYPHENIDYL HYDROCHLORIDE	4	PMP22
AMOXAPINE	4	PMP22
RALOXIFENE HYDROCHLORIDE	4	PMP22
IDARUBICIN	4	PMP22
OXYBUTYNIN CHLORIDE	4	PMP22
PINACIDIL ANHYDROUS	4	PMP22
NICARDIPINE HYDROCHLORIDE	4	PMP22
PILOCARPINE HYDROCHLORIDE	4	PMP22
PROTRIPTYLINE HYDROCHLORIDE	4	PMP22
BENZTROPINE MESYLATE	4	PMP22
BUSPIRONE HYDROCHLORIDE	4	PMP22
DOBUTAMINE HYDROCHLORIDE	4	PMP22
PROMAZINE HYDROCHLORIDE	4	PMP22
DICYCLOMINE HYDROCHLORIDE	4	PMP22
GUANFACINE HYDROCHLORIDE	4	PMP22
HYDROCORTISONE SODIUM SUCCINATE	4	PMP22
BROMOCRIPTINE MESYLATE	4	PMP22
DIHYDROERGOTAMINE MESYLATE	4	PMP22
DOXAZOSIN MESYLATE	4	PMP22
CYCLOBENZAPRINE HYDROCHLORIDE	4	PMP22
DEXBROMPHENIRAMINE MALEATE	4	PMP22
CLOMIPRAMINE HYDROCHLORIDE	4	PMP22
CHLORMEZANONE	4	PMP22
PROMETHAZINE HYDROCHLORIDE	4	PMP22
CITALOPRAM HYDROBROMIDE	4	PMP22

Druggability pyramid

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

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	1	PMP22
B	Phased (≥1) drug, not yet approved	0
C	Druggable family + PDB, no drug	0
D	Druggable family + AlphaFold only, no drug	1	HS3ST3B1
E	Difficult family or no structure, no drug	4	TEKT3, CDRT4, CDRT15, MT-ATP6

Undrugged target profiles

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

Symbol	ChEMBL assays	Drugged partners (top 3)
TEKT3	0	—
CDRT4	0	—
CDRT15	0	—
HS3ST3B1	0	—
MT-ATP6	1	—

Clinical trials & evidence

Clinical trials

Clinical trials: 14.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	8
PHASE2	2
PHASE2/PHASE3	1
PHASE3	1
PHASE1/PHASE2	1
PHASE1	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT01289704	PHASE2/PHASE3	UNKNOWN	Treadmill, Stretching and Proprioceptive Exercise (TreSPE) Rehabilitation Program for Charcot-Marie-Tooth Neuropathy Type 1A (CMT1A)
NCT02579759	PHASE3	COMPLETED	Phase III Trial Assessing the Efficacy and Safety of PXT3003 in CMT1A Patients (PLEO-CMT)
NCT06328712	PHASE1/PHASE2	RECRUITING	Evaluate the Safety and Efficacy of EN001 in Patients With Charcot-Marie-Tooth Disease Type 1A(CMT1A) (Phase 1b: Open-label, Dose-escalation, Single-center; Phase 2a: Randomized, Double-blind, Placebo-controlled, Multicenter)
NCT02600286	PHASE2	TERMINATED	Ulipristal Acetate In Disease Charcot-Marie-Tooth Type of 1A
NCT02967679	PHASE2	COMPLETED	SERENDEM : MD1003 in Patients Suffering From Demyelinating Neuropathies, an Open Label Pilot Study
NCT07140614	PHASE1	RECRUITING	A First in Human Study to Assess the Safety, Tolerability, and Pharmacokinetics of EDK060 in Adults With CMT1A.
NCT02596191	Not specified	ACTIVE_NOT_RECRUITING	Tools for Therapeutic Evaluation in Charcot-Marie-Tooth Disease Type 1A: Outcome Measures and Biomarkers
NCT06794489	Not specified	RECRUITING	Longitudinal Biomarkers With Selected Outcome Measures In CMT
NCT07049588	Not specified	RECRUITING	Identification of Novel Biomarkers in Early Charcot-Marie-Tooth 1A Disease
NCT07461896	Not specified	RECRUITING	Studying Nerve Function and Structure in Charcot-Marie-Tooth Disease, Anti-MAG Neuropathy and CIDP
NCT07476365	Not specified	RECRUITING	A Multi-omic Approach to the Identification of Novel Biomarkers in Early Charcot-Marie-Tooth 1A Disease (CMT1A)
NCT07570446	Not specified	RECRUITING	AUTONOMOUS DISORDERS IN CMT
NCT02357355	Not specified	COMPLETED	Driving Ability in Patients With CMT 1A
NCT03278093	Not specified	UNKNOWN	Effect of Orthoses and Underfoot Vibration on Balance in Neuropathy

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
ULIPRISTAL ACETATE	4	1