ORPHA:101076
X-linked Charcot-Marie-Tooth disease type 2
Also known as: CMTX2
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
28
30.9th percentile
Trials
0
Interventional, condition-specific
Researchers
164
Distinct authors in sample
Gene link
—
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare genetic peripheral sensorimotor characterized by an X-linked inheritance pattern and the -to childhood-onset of , distal muscle weakness and atrophy (more prominent in the lower extremities than in the upper extremities), pes cavus, and absent tendon reflexes. Sensory impairment and has been reported in some individuals.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0010550
- MeSH:C535302
- OMIM:302801
- UMLS:C1844873
Additional Mondo synonyms (6)
CMTX 2 · Charcot Marie Tooth disease X-linked recessive 2 · Charcot-Marie-Tooth disease X-linked recessive type 2 · Charcot-Marie-Tooth disease, X-linked recessive, 2 · Charcot-Marie-Tooth neuropathy, X-linked recessive, 2 · Charcot-Marie-Tooth neuropathy, X-linked recessive, 2, X-linked recessive
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
3/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
28 matched papers (13 in last 10 years) Source
- Phenotype characterisedPresent
38 HPO annotations (e.g. Distal amyotrophy; Intellectual disability; Decreased motor nerve conduction velocity) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- Interventional trialPartial
None under the specific name; 42 for broader category Charcot-Marie-Tooth disease
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Phenotypes (Monarch / HPO)
38
Associated phenotypes · MONDO:0010550
- Distal amyotrophy
- Intellectual disability
- Decreased motor nerve conduction velocity
- Steppage gait
- Pes cavus
Showing 5 of 38 — open Monarch for the full list.
Animal models (Monarch / Alliance)
None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.
Monarch fetch 2026-07-29
Therapies
Designations, candidates, and chemicals
FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.
Orphan designation (FDA · EMA)
No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.
Open Targets candidates
No drugs or clinical candidates returned for this Mondo ID on Open Targets.
CTD chemicals (MyDisease.info)
No CTD chemical associations returned for this Mondo ID.
Literature
Is anyone studying this?
28
28 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
28 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).
13 in the last 10 years · high confidence · 30.9th percentile (publications denominator)
Phrase hits: 28 · MeSH hits: 0
Who's working on it?
164
Distinct author names in 28 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Antonellis A2 papers · 2013Papers in Europe PMC
- 02Cadeddu M2 papers · 2025
School of Applied Sciences, Edinburgh Napier University, Edinburgh EH11 4BN, UK.
Papers in Europe PMC - 03Chaudhry R2 papers · 2013
Northcott Neuroscience Laboratory, ANZAC Research Institute, Gate 3, Hospital Road, Concord, New South Wales, 2761, Australia. rchaudhry@med.usyd.edu.au
Papers in Europe PMC - 04Kennerson M2 papers · 2013Papers in Europe PMC
- 05Kidambi A2 papers · 2013Papers in Europe PMC
- 06Li J2 papers · 2024
Department of Neurology, Beijing Friendship Hospital, Capital Medical University, Beijing 100050, People’s Republic of China
Papers in Europe PMC - 07Nicholson G2 papers · 2013Papers in Europe PMC
- 08Wang H2 papers · 2023
First Clinical Medical College, Yunnan University of Chinese Medicine, Kunming, China.
Papers in Europe PMC - 09Abrams CK1 paper · 2001
Albert Einstein College of Medicine, 1300, Morris Park Avenue Bronx, NY 10463, USA. mmfreidi@ix.netcom.com
Papers in Europe PMC - 10Aguzzi A1 paper · 2011Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present). 42 trials are registered for Charcot-Marie-Tooth disease, the broader category — shown separately because they may or may not enrol this specific subtype.
Data as of 11 September 2026 · last trial check 11 September 2026
No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.
high confidence · 38.6th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
42 interventional trials matched Charcot-Marie-Tooth disease, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: Charcot-Marie-Tooth disease
42
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. How we count trials.
Recruiting under the broader category
- NCT07140614·RECRUITING·A First in Human Study to Assess the Safety, Tolerability, and Pharmacokinetics of EDK060 in Adults With CMT1A.
Conditions: Charcot-Marie-Tooth Disease, Type 1A·Matched via name phrase
- NCT06328712·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)
Conditions: Charcot-Marie-Tooth Disease Type 1A·Matched via name phrase
- NCT07726043·RECRUITING·Clinical Trial Evaluating the Impact of an Intensive Rehabilitation Program Combined With Tendon Vibratory Stimulation on Functional Balance in Individuals With Charcot-Marie-Tooth Disease Type 1A
Conditions: Charcot-Marie-Tooth Disease Type 1A·Matched via name phrase
- NCT07152197·RECRUITING·Effects of Resistance Exercises in Hereditary Sensory-Motor Neuropathy (Charcot-Marie-Tooth Disease)
Conditions: Polyneuropathy · Charcot Marie Tooth Disease (CMT)·Matched via name phrase
- NCT06708468·RECRUITING·Personalized Training for People With Rare Neuromuscular Disorders
Conditions: Neuromuscular Diseases (NMD) · Charcot Marie Tooth Disease (CMT) · Facioscapulohumeral Muscular Dystrophy · Myotonic Dystrophy Type 1 (DM1)·Matched via name phrase
- NCT07226297·ENROLLING BY INVITATION·Personalized Antisense Oligonucleotide for A Single Participant With GARS1 Gene Mutation Associated With Charcot-Marie-Tooth Disease Type 2D (CMT2D)
Conditions: Charcot-Marie-Tooth Disease Type 2D·Matched via name phrase
- NCT07447557·RECRUITING·Study of Intrathecal ELP-02 for Charcot-Marie-Tooth Disease Type 4J (CMT4J)
Conditions: Charcot-Marie-Tooth Disease Type 4J·Matched via name phrase
- NCT06881979·RECRUITING·High-Tech Rehabilitation Pathway for Chronic Adult Neuromuscular Diseases - Fit4MedRob-Chronic MND Project
Conditions: Amyotrophic Lateral Sclerosis · Chronic Inflammatory Demyelinating Neuropathy · Charcot-Marie-Tooth Disease·Matched via name phrase
- NCT07136844·RECRUITING·Gait Analysis Parameter and Upper Limb Evaluation in Adult Patients With Neurological or Metabolic Pathology
Conditions: Neuromuscular Diseases · Obesity (Disorder) · Myotonic Dystrophy 1 · Myasthenic Syndrome·Matched via name phrase
- NCT07478172·RECRUITING·Effects of Whole-body Electrical Muscle Stimulation Exercise on Adults With Neuromuscular Disease
Conditions: Neuromuscular Diseases (NMD) · Amyotrophic Lateral Sclerosis · Myasthenia Gravis · Lambert-eaton Myasthenic Syndrome·Matched via name phrase
- NCT07188415·RECRUITING·CMT Gait, Mobility, Balance - AOFAS Grant
Conditions: Charcot Marie Tooth Disease (CMT)·Matched via name phrase
- NCT07049588·RECRUITING·Identification of Novel Biomarkers in Early Charcot-Marie-Tooth 1A Disease
Conditions: Charcot-Marie-Tooth Disease Type 1A·Matched via name phrase
Other registries (secondary)
Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.
raw 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-30
Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri
No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).
Where to find support
Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.
Orphanet entry for X-linked Charcot-Marie-Tooth disease type 2 — check Associations / patient organisations on that page.
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"X-linked Charcot-Marie-Tooth disease type 2" OR "CMTX2" OR "CMTX 2" OR "Charcot Marie Tooth disease X-linked recessive 2" OR "Charcot-Marie-Tooth disease X-linked recessive type 2" OR "Charcot-Marie-Tooth disease, X-linked recessive, 2" OR "Charcot-Marie-Tooth neuropathy, X-linked recessive, 2" OR "Charcot-Marie-Tooth neuropathy, X-linked recessive, 2, X-linked recessive"
MeSH descriptor terms unioned into the query: Charcot-Marie-Tooth disease, X-linked recessive, 2
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"X-linked Charcot-Marie-Tooth disease type 2" OR "CMTX2" OR "CMTX 2" OR "Charcot Marie Tooth disease X-linked recessive 2" OR "Charcot-Marie-Tooth disease X-linked recessive type 2" OR "Charcot-Marie-Tooth disease, X-linked recessive, 2" OR "Charcot-Marie-Tooth neuropathy, X-linked recessive, 2" OR "Charcot-Marie-Tooth neuropathy, X-linked recessive, 2, X-linked recessive"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"Charcot-Marie-Tooth disease"
Query health: suspect — strategies attempted: phrase, mesh; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T07:16:11.075Z