Charcot-Marie-Tooth disease type 1E

Summary

Charcot-Marie-Tooth disease type 1E (MONDO:0007311) is a disease caused by PMP22 (GenCC Strong), with 6 cohort genes and 1 clinical trial.

At a glance

• Prevalence: Unknown (Worldwide) [Orphanet-validated]
• Causal gene: PMP22 (GenCC Strong)
• Cohort genes: 6
• ClinVar variants: 29
• Phenotypes (HPO): 40
• Clinical trials: 1

Clinical features

Signs & symptoms

Clinical features (HPO)

40 HPO clinical features (Orphanet curated; top 40 by frequency):

HPO ID	Term	Frequency
HP:0000407	Sensorineural hearing impairment	Very frequent (80-99%)
HP:0000762	Decreased nerve conduction velocity	Very frequent (80-99%)
HP:0002936	Distal sensory impairment	Very frequent (80-99%)
HP:0007108	Demyelinating peripheral neuropathy	Very frequent (80-99%)
HP:0009053	Distal lower limb muscle weakness	Very frequent (80-99%)
HP:0001288	Gait disturbance	Very frequent (80-99%)
HP:0000615	Abnormal pupil morphology	Frequent (30-79%)
HP:0001288	Gait disturbance	Frequent (30-79%)
HP:0001761	Pes cavus	Frequent (30-79%)
HP:0002166	Impaired vibration sensation in the lower limbs	Frequent (30-79%)
HP:0002172	Postural instability	Frequent (30-79%)
HP:0002522	Areflexia of lower limbs	Frequent (30-79%)
HP:0002600	Hyporeflexia of lower limbs	Frequent (30-79%)
HP:0008944	Distal lower limb amyotrophy	Frequent (30-79%)
HP:0008962	Calf muscle hypoplasia	Frequent (30-79%)
HP:0009027	Foot dorsiflexor weakness	Frequent (30-79%)
HP:0009049	Peroneal muscle atrophy	Frequent (30-79%)
HP:0009130	Hand muscle atrophy	Frequent (30-79%)
HP:0010829	Impaired temperature sensition	Frequent (30-79%)
HP:0010830	Impaired tactile sensation	Frequent (30-79%)
HP:0010832	Abnormality of pain sensation	Frequent (30-79%)
HP:0011727	Peroneal muscle weakness	Frequent (30-79%)
HP:0012074	Tonic pupil	Frequent (30-79%)
HP:0012391	Hyporeflexia of upper limbs	Frequent (30-79%)
HP:0030211	Slow pupillary light response	Frequent (30-79%)
HP:0030237	Hand muscle weakness	Frequent (30-79%)
HP:0031006	Acroparesthesia	Frequent (30-79%)
HP:0000360	Tinnitus	Occasional (5-29%)
HP:0001171	Split hand	Occasional (5-29%)
HP:0001263	Global developmental delay	Occasional (5-29%)
HP:0001765	Hammertoe	Occasional (5-29%)
HP:0002141	Gait imbalance	Occasional (5-29%)
HP:0002540	Inability to walk	Occasional (5-29%)
HP:0003376	Steppage gait	Occasional (5-29%)
HP:0008110	Equinovarus deformity	Occasional (5-29%)
HP:0008124	Talipes calcaneovarus	Occasional (5-29%)
HP:0009473	Joint contracture of the hand	Occasional (5-29%)
HP:0009916	Anisocoria	Occasional (5-29%)
HP:0011476	Profound sensorineural hearing impairment	Occasional (5-29%)
HP:0012735	Cough	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	Charcot-Marie-Tooth disease type 1E
Mondo ID	MONDO:0007311
MeSH	C537986
OMIM	118300
Orphanet	90658
DOID	DOID:0110153
ICD-11	1924906594
UMLS	C3495591
MedGen	501212
GARD	0009190
Is cancer (heuristic)	no

Also known as: Charcot Marie Tooth disease type 1E · Charcot-Marie-Tooth disease and deafness · Charcot-Marie-Tooth disease, type 1E · Charcot-Marie-Tooth disease-deafness syndrome · CMT 1E · CMT1E

Data availability: 29 ClinVar variants · 4 GenCC gene-disease records.

Disease family

Classification path: disease › human disease › disease by body system or component › nervous system disorder › peripheral nervous system disorder › peripheral neuropathy › hereditary peripheral neuropathy › Charcot-Marie-Tooth disease › Charcot-Marie-Tooth disease type 1 › Charcot-Marie-Tooth disease type 1E

Related subtypes (5): Charcot-Marie-Tooth disease type 1B, Charcot-Marie-Tooth disease type 1A, Charcot-Marie-Tooth disease type 1C, Charcot-Marie-Tooth disease type 1D, Charcot-Marie-Tooth disease type 1F

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

29 retrieved; paginated sample, class counts are floors:

10 uncertain significance, 6 likely pathogenic, 5 pathogenic, 3 pathogenic/likely pathogenic, 3 conflicting classifications of pathogenicity, 2 benign/likely benign

ClinVar	Variant (HGVS)	Gene	Classification	Review
2580345	GRCh37/hg19 17p12(chr17:14095256-15492591)x3	CDRT15	Pathogenic	criteria provided, single submitter
3899836	Single allele	HS3ST3B1	Pathogenic	criteria provided, single submitter
217238	NM_000304.4(PMP22):c.434del (p.Leu145fs)	PMP22	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
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
8436	NM_000304.4(PMP22):c.199G>C (p.Ala67Pro)	PMP22	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
8444	NM_000304.4(PMP22):c.469C>T (p.Arg157Trp)	PMP22	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
3776801	NC_000017.11:g.14301519_15331585del	CDRT7	Likely pathogenic	criteria provided, single submitter
2584815	NM_000304.4(PMP22):c.257_267del (p.Gln86fs)	PMP22	Likely pathogenic	criteria provided, single submitter
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
637842	NM_000304.4(PMP22):c.418T>A (p.Trp140Arg)	PMP22	Likely pathogenic	criteria provided, multiple submitters, no conflicts
8440	NM_000304.4(PMP22):c.82T>C (p.Trp28Arg)	PMP22	Likely pathogenic	criteria provided, multiple submitters, no conflicts
431943	NM_000304.4(PMP22):c.233T>C (p.Leu78Pro)	PMP22	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
8431	NM_000304.4(PMP22):c.353C>T (p.Thr118Met)	PMP22	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
8441	NM_000304.4(PMP22):c.344_355del (p.Ala115_Thr118del)	PMP22	Conflicting classifications of pathogenicity	no assertion criteria provided
3896951	NM_002677.5(PMP2):c.354T>C (p.Cys118=)	PMP2	Uncertain significance	criteria provided, single submitter
188195	NM_000304.4(PMP22):c.185T>G (p.Leu62Arg)	PMP22	Uncertain significance	criteria provided, multiple submitters, no conflicts
208243	NM_000304.4(PMP22):c.117G>C (p.Trp39Cys)	PMP22	Uncertain significance	no assertion criteria provided
462781	NM_000304.4(PMP22):c.478G>A (p.Glu160Lys)	PMP22	Uncertain significance	criteria provided, multiple submitters, no conflicts
4795129	NM_000304.4(PMP22):c.83G>C (p.Trp28Ser)	PMP22	Uncertain significance	criteria provided, single submitter
531692	NM_000304.4(PMP22):c.255C>G (p.Cys85Trp)	PMP22	Uncertain significance	criteria provided, multiple submitters, no conflicts
586345	NM_000304.4(PMP22):c.362A>G (p.His121Arg)	PMP22	Uncertain significance	criteria provided, single submitter
637422	NM_000304.4(PMP22):c.-134G>A	PMP22	Uncertain significance	criteria provided, single submitter
872649	NM_000304.4(PMP22):c.260T>C (p.Leu87Pro)	PMP22	Uncertain significance	criteria provided, multiple submitters, no conflicts
1346244	NM_182961.4(SYNE1):c.13825C>A (p.Leu4609Ile)	SYNE1	Uncertain significance	criteria provided, multiple submitters, no conflicts
321862	NM_000304.4(PMP22):c.79-6C>T	PMP22	Benign/Likely benign	criteria provided, multiple submitters, no conflicts
378379	NM_000304.4(PMP22):c.396C>T (p.Tyr132=)	PMP22	Benign/Likely benign	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 21 · Orphanet: 10 · 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
SYNE1	Orphanet:319332	Autosomal recessive myogenic arthrogryposis multiplex congenita
SYNE1	Orphanet:88644	Autosomal recessive ataxia, Beauce type
SYNE1	Orphanet:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy
PMP2	Orphanet:476394	PMP2-related Charcot-Marie-Tooth disease type 1

Cohort genes → proteins

6 cohort genes, 5 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
CDRT7	HGNC:14386	ENSG00000259944		CMT1A duplicated region transcript 7	clinvar
CDRT15	HGNC:14395	ENSG00000223510	Q96T59	CMT1A duplicated region transcript 15 protein	clinvar
SYNE1	HGNC:17089	ENSG00000131018	Q8NF91	Nesprin-1	clinvar
HS3ST3B1	HGNC:5198	ENSG00000125430	Q9Y662	Heparan sulfate glucosamine 3-O-sulfotransferase 3B1	clinvar
PMP2	HGNC:9117	ENSG00000147588	P02689	Myelin P2 protein	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.
SYNE1	Nesprin-1	Multi-isomeric modular protein which forms a linking network between organelles and the actin cytoskeleton to maintain the subcellular spatial organization.
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.
PMP2	Myelin P2 protein	May play a role in lipid transport protein in Schwann cells.

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
CDRT7	Other/Unknown	no
CDRT15	Other/Unknown	no
SYNE1	Other/Unknown	no		Actinin_actin-bd_CS, CH_dom, Spectrin_repeat
HS3ST3B1	Enzyme (other)	yes	2.8.2.30	Sulfotransferase_dom, P-loop_NTPase, NST/OST
PMP2	Other/Unknown	no		Fatty_acid-bd, Lipocln_cytosolic_FA-bd_dom, Calycin

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)	1
broad (>20)	5
unknown	0

Top tissues across cohort

Tissue	Cohort genes
olfactory bulb	2
trigeminal ganglion	2
male germ line stem cell (sensu Vertebrata) in testis	2
dorsal root ganglion	1
Brodmann (1909) area 9	1
liver	1
left testis	1
right testis	1
calcaneal tendon	1
cerebellar hemisphere	1
right hemisphere of cerebellum	1
epithelium of nasopharynx	1
parotid gland	1
tibia	1
superior vestibular nucleus	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
CDRT7	16		yes	male germ line stem cell (sensu Vertebrata) in testis, Brodmann (1909) area 9, liver
CDRT15	127		yes	right testis, male germ line stem cell (sensu Vertebrata) in testis, left testis
SYNE1	275	ubiquitous	marker	cerebellar hemisphere, right hemisphere of cerebellum, calcaneal tendon
HS3ST3B1	206	ubiquitous	marker	tibia, parotid gland, epithelium of nasopharynx
PMP2	209	tissue_specific	marker	olfactory bulb, superior vestibular nucleus, trigeminal ganglion

Protein interactions among cohort

Intra-cohort edges: 1.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
SYNE1	2,886
PMP2	1,374
PMP22	647
HS3ST3B1	459
CDRT15	137
CDRT7	0

Intra-cohort edges

A	B	Sources
CDRT15	HS3ST3B1	string_interaction

Structural data

PDB: 2 · AlphaFold-only: 3 · No structure: 1

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
PMP2	P02689	30
SYNE1	Q8NF91	3

AlphaFold-only cohort genes (top 30 by pLDDT)

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

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 6. 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
EGR2 and SOX10-mediated initiation of Schwann cell myelination	1	122.8×	0.021	PMP22
HS-GAG biosynthesis	1	115.3×	0.021	HS3ST3B1
Meiosis	1	95.2×	0.021	SYNE1
Reproduction	1	63.4×	0.024	SYNE1
Meiotic synapsis	1	47.0×	0.025	SYNE1
Cell Cycle	1	12.0×	0.081	SYNE1

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
nuclear matrix anchoring at nuclear membrane	1	1404.3×	0.013	SYNE1
myelin assembly	1	468.1×	0.014	PMP22
bleb assembly	1	383.0×	0.014	PMP22
glycosaminoglycan biosynthetic process	1	210.7×	0.014	HS3ST3B1
muscle cell differentiation	1	210.7×	0.014	SYNE1
fatty acid transport	1	156.0×	0.014	PMP2
peripheral nervous system development	1	145.3×	0.014	PMP22
nucleus organization	1	140.4×	0.014	SYNE1
heparan sulfate proteoglycan biosynthetic process	1	140.4×	0.014	HS3ST3B1
membrane organization	1	127.7×	0.014	PMP2
branching involved in ureteric bud morphogenesis	1	91.6×	0.018	HS3ST3B1
negative regulation of neuron projection development	1	59.3×	0.025	PMP22
Golgi organization	1	33.4×	0.041	SYNE1
chemical synaptic transmission	1	19.3×	0.065	PMP22
negative regulation of cell population proliferation	1	10.5×	0.110	PMP22
spermatogenesis	1	8.8×	0.123	SYNE1
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
CDRT7	0	0
CDRT15	0	0
SYNE1	0	0
HS3ST3B1	0	0
PMP2	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
PMP2	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	CDRT7, CDRT15, SYNE1, PMP2

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)
CDRT7	0	—
CDRT15	0	—
SYNE1	0	—
HS3ST3B1	0	—
PMP2	1	—

Clinical trials & evidence

Clinical trials

Clinical trials: 1.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT05902351	Not specified	RECRUITING	Natural History Study for Charcot Marie Tooth Disease