ORPHA:228374
Charcot-Marie-Tooth disease type 2B5
Also known as: Autosomal recessive Charcot-Marie-Tooth disease type 2B5 · SEOAN due to NEFL deficiency · Severe early-onset axonal neuropathy due to NEFL deficiency · Severe early-onset axonal neuropathy due to light neurofilament subunit deficiency · AR-CMT2B5
Publications
0
Trials
0
Interventional, condition-specific
Researchers
0
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
A rare axonal motor and sensory characterized by onset of slowly distal motor weakness and atrophy (more severe in legs and moderate in arms) with mildly delayed motor development, , and distal sensory impairment of all sensory modalities.
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:0016454
- UMLS:C4749824
Additional Mondo synonyms (3)
autosomal recessive Charcot-Marie-Tooth disease type 2B5 · severe early-onset axonal neuropathy due to NEFL deficiency · severe early-onset axonal neuropathy due to light neurofilament subunit deficiency
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.”
1/6 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
- LiteratureNot found
No matched Europe PMC hits under our query rules Source
- Phenotype characterisedNot found
No HPO disease–phenotype associations via Monarch for these Mondo IDs
- 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)
None returned for this Mondo ID. That often means “not linked under this ID,” not “no clinical features.”
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?
0
We found no papers under this exact name — work may still exist under another label.
0 in the last 10 years · low confidence
Phrase hits: 0 · MeSH hits: 0
Who's working on it?
0
Distinct author names in 0 sampled papers.
Who's working on it?
No author names could be extracted from the sampled publications. Try the Europe PMC query in “How we counted this,” or contact an umbrella rare-disease organisation for researcher referrals.
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 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.
low 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
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 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 Charcot-Marie-Tooth disease type 2B5 — 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.
"Charcot-Marie-Tooth disease type 2B5" OR "Autosomal recessive Charcot-Marie-Tooth disease type 2B5" OR "SEOAN due to NEFL deficiency" OR "Severe early-onset axonal neuropathy due to NEFL deficiency" OR "Severe early-onset axonal neuropathy due to light neurofilament subunit deficiency" OR "AR-CMT2B5"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Charcot-Marie-Tooth disease type 2B5" OR "Autosomal recessive Charcot-Marie-Tooth disease type 2B5" OR "SEOAN due to NEFL deficiency" OR "Severe early-onset axonal neuropathy due to NEFL deficiency" OR "Severe early-onset axonal neuropathy due to light neurofilament subunit deficiency" OR "AR-CMT2B5"
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; with hits: phrase
Parent literature probe: Charcot-Marie-Tooth disease type 2 (MONDO:0018993) — 463 hits
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
- Zero publications but parent term Charcot-Marie-Tooth disease type 2 has 463 — literature likely indexed under a broader name
Ingested 2026-07-27T10:09:01.432Z · excluded from neglect metrics