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ORPHA:228374

Charcot-Marie-Tooth disease type 2B5

low confidenceDisorder

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

Query health: suspect — Only one of 2 strategies returned hits (phrase).

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

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.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteratureNot found

    No matched Europe PMC hits under our query rules Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. 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)

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?

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

Open Europe PMC search

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 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.

low 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

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

Open the complete matched search on ClinicalTrials.gov

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 2026-07-26

This 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"

Run this search on Europe PMC

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" OR "Charcot-Marie-Tooth disease type 2"

Recall-expansion terms: 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: suspect — strategies attempted: phrase, recall-expansion; 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