ORPHA:447964
Autosomal dominant Charcot-Marie-Tooth disease type 2V
Also known as: Autosomal dominant Charcot-Marie-Tooth disease type 2 due to NAGLU mutation · CMT2V · Hereditary adult-onset painful axonal polyneuropathy
Publications
9
24.9th percentile
Trials
0
Interventional, condition-specific
Researchers
66
Distinct authors in sample
Gene link
NAGLU
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare, axonal motor and sensory characterized by adult onset of recurrent pain in legs with or without cramps, loss of deep tendon reflexes and vibration sense, paresthesias in the feet and later in the hands. Patients often experience sleep disturbances and mild sensory .
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:0014665
- OMIM:616491
- UMLS:C5569050
Additional Mondo synonyms (5)
Charcot-Marie-Tooth disease caused by mutation in NAGLU · NAGLU Charcot-Marie-Tooth disease · autosomal dominant Charcot-Marie-Tooth disease type 2 due to NAGLU mutation · autosomal dominant Charcot-Marie-Tooth disease type 2V · hereditary adult-onset painful axonal polyneuropathy
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 identifiedPresent
Strong — NAGLU
- LiteraturePresent
9 matched papers (8 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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?
Yes — we know a specific gene responsible (NAGLU).
GenCC classification: Strong.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
9
9 papers have ever been indexed 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=5449) is 41.
9 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
8 in the last 10 years · high confidence · 24.9th percentile (publications denominator)
Phrase hits: 9 · MeSH hits: 0
Who's working on it?
66
Distinct author names in 9 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.
- 01Reilly MM2 papers · 2024
Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.
Papers in Europe PMC - 02Agrawal P1 paper · 2019
Department of Computational Biology, Indraprastha Institute of Information Technology, New Delhi 110020, India.
Papers in Europe PMC - 03Akhter S1 paper · 2019
Department of Computational Biology, Indraprastha Institute of Information Technology, New Delhi 110020, India.
Papers in Europe PMC - 04Alharbi AM1 paper · 2022
Department of Clinical Laboratory Sciences, College of Applied Medical Sciences, University of Hail, Hail, Saudi Arabia.
Papers in Europe PMC - 05Alqahtani AM1 paper · 2022
Department of Pharmacology, College of Pharmacy, King Khalid University, Abha, Saudi Arabia.
Papers in Europe PMC - 06Alqahtani S1 paper · 2022
Department of Pharmacology, College of Pharmacy, King Khalid University, Abha, Saudi Arabia.
Papers in Europe PMC - 07Alqahtani T1 paper · 2022
Department of Pharmacology, College of Pharmacy, King Khalid University, Abha, Saudi Arabia.
Papers in Europe PMC - 08Asiri YI1 paper · 2022
Department of Pharmacology, College of Pharmacy, King Khalid University, Abha, Saudi Arabia.
Papers in Europe PMC - 09
- 10Baudet H1 paper · 2024
Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Papers 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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial. 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 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- NCT07049588·RECRUITING·Identification of Novel Biomarkers in Early Charcot-Marie-Tooth 1A Disease
Conditions: Charcot-Marie-Tooth Disease Type 1A·Matched via name phrase
Observational and natural-history studies
1 observational study matches this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
Recruiting or not-yet-recruiting
- NCT05902351·RECRUITING·Natural History Study for Charcot Marie Tooth Disease
Conditions: Charcot-Marie-Tooth Disease · Charcot-Marie-Tooth · Charcot-Marie-Tooth Disease, Type IA · Charcot-Marie-Tooth Disease Type 2A·Matched via recall expansion
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
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.
"Autosomal dominant Charcot-Marie-Tooth disease type 2V" OR "Autosomal dominant Charcot-Marie-Tooth disease type 2 due to NAGLU mutation" OR "CMT2V" OR "Hereditary adult-onset painful axonal polyneuropathy" OR "NAGLU Charcot-Marie-Tooth disease"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Autosomal dominant Charcot-Marie-Tooth disease type 2V" OR "Autosomal dominant Charcot-Marie-Tooth disease type 2 due to NAGLU mutation" OR "CMT2V" OR "Hereditary adult-onset painful axonal polyneuropathy" OR "NAGLU Charcot-Marie-Tooth disease" OR "NAGLU" OR "Charcot-Marie-Tooth disease type 2"
Recall-expansion terms: NAGLU, Charcot-Marie-Tooth disease type 2
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"Charcot-Marie-Tooth disease"
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: Charcot-Marie-Tooth disease caused by mutation in NAGLU
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 2026-07-27T16:34:24.030Z