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ORPHA:99942

Autosomal dominant Charcot-Marie-Tooth disease type 2I

high confidenceDisorder

Also known as: CMT2I

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

Publications

111

61.9th percentile

Trials

0

Interventional, condition-specific

Researchers

778

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor , characterized by a late onset with severe sensory loss (paresthesia and hypoesthesia) associated with distal weakness, mainly of the legs, and absent or reduced deep tendon reflexes.

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 (1)

Charcot-Marie-Tooth disease, type 2I

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.”

2/6 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. LiteraturePresent

    111 matched papers (77 in last 10 years) 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?

111

111 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=5449) is 41.

111 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).

77 in the last 10 years · high confidence · 61.9th percentile (publications denominator)

Phrase hits: 111 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

778

Distinct author names in 111 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.

  1. 01
    Pareyson D11 papers · 2025

    15 Departments of Clinical Neurosciences, IRCCS Foundation, Carlo Besta Neurological Institute, Milan, Italy.

    Papers in Europe PMC
  2. 02
    Grandis M10 papers · 2025

    Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genova, IRCCS AOU San Martino-IST, 16132 Genova, Italy.

    Papers in Europe PMC
  3. 03
    Pisciotta C10 papers · 2025

    From the Fondazione IRCCS Istituto Neurologico Carlo Besta (C. Pisciotta, D.C., I.T., P.S., D.P.), Milan; Department of Neurosciences, Reproductive Sciences and Odontostomatology (L.S., F.M., S.T.), Federico II University of Naples; Department of Neuroscience, Biomedicine and Movement Sciences (G.M.F., T.C.), University of Verona; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics and Maternal Infantile Sciences (A.S., M.G.), University of Genoa; IRCCS Ospedale Policlinico San Martino (A.S., M.G.), Genoa; Division of Neuroscience and INSPE (S.C.P.), IRCCS Ospedale San Raffaele, Milan; A.O. di Parma (I.A., M.C.T.), U.O. Neurologia; Università Cattolica del Sacro Cuore (L.P.); Fondazione Policlinico Universitario A. Gemelli IRCCS (L.P., C. Pazzaglia), Rome; Neuroscience Centre (A.Q.), Magna Graecia University and Neuroimaging Research Unit, IBFM-CNR, Germaneto, Catanzaro; Department of Medical Sciences (P.V.), Magna Graecia University, Catanzaro; Unit of Neurology and Neuromuscular Diseases (L.G., M.R., A.M., G.V.), Department of Clinical and Experimental Medicine, University of Messina; and Department of Woman, Newborn and Child (F.P.), Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, and University of Milan, Italy.

    Papers in Europe PMC
  4. 04
    Fabrizi GM9 papers · 2025

    From the Fondazione IRCCS Istituto Neurologico Carlo Besta (C. Pisciotta, D.C., I.T., P.S., D.P.), Milan; Department of Neurosciences, Reproductive Sciences and Odontostomatology (L.S., F.M., S.T.), Federico II University of Naples; Department of Neuroscience, Biomedicine and Movement Sciences (G.M.F., T.C.), University of Verona; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics and Maternal Infantile Sciences (A.S., M.G.), University of Genoa; IRCCS Ospedale Policlinico San Martino (A.S., M.G.), Genoa; Division of Neuroscience and INSPE (S.C.P.), IRCCS Ospedale San Raffaele, Milan; A.O. di Parma (I.A., M.C.T.), U.O. Neurologia; Università Cattolica del Sacro Cuore (L.P.); Fondazione Policlinico Universitario A. Gemelli IRCCS (L.P., C. Pazzaglia), Rome; Neuroscience Centre (A.Q.), Magna Graecia University and Neuroimaging Research Unit, IBFM-CNR, Germaneto, Catanzaro; Department of Medical Sciences (P.V.), Magna Graecia University, Catanzaro; Unit of Neurology and Neuromuscular Diseases (L.G., M.R., A.M., G.V.), Department of Clinical and Experimental Medicine, University of Messina; and Department of Woman, Newborn and Child (F.P.), Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, and University of Milan, Italy.

    Papers in Europe PMC
  5. 05
    Schenone A9 papers · 2024

    Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genova, IRCCS AOU San Martino-IST, 16132 Genova, Italy.

    Papers in Europe PMC
  6. 06
    Cavallaro T8 papers · 2024

    From the Fondazione IRCCS Istituto Neurologico Carlo Besta (C. Pisciotta, D.C., I.T., P.S., D.P.), Milan; Department of Neurosciences, Reproductive Sciences and Odontostomatology (L.S., F.M., S.T.), Federico II University of Naples; Department of Neuroscience, Biomedicine and Movement Sciences (G.M.F., T.C.), University of Verona; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics and Maternal Infantile Sciences (A.S., M.G.), University of Genoa; IRCCS Ospedale Policlinico San Martino (A.S., M.G.), Genoa; Division of Neuroscience and INSPE (S.C.P.), IRCCS Ospedale San Raffaele, Milan; A.O. di Parma (I.A., M.C.T.), U.O. Neurologia; Università Cattolica del Sacro Cuore (L.P.); Fondazione Policlinico Universitario A. Gemelli IRCCS (L.P., C. Pazzaglia), Rome; Neuroscience Centre (A.Q.), Magna Graecia University and Neuroimaging Research Unit, IBFM-CNR, Germaneto, Catanzaro; Department of Medical Sciences (P.V.), Magna Graecia University, Catanzaro; Unit of Neurology and Neuromuscular Diseases (L.G., M.R., A.M., G.V.), Department of Clinical and Experimental Medicine, University of Messina; and Department of Woman, Newborn and Child (F.P.), Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, and University of Milan, Italy.

    Papers in Europe PMC
  7. 07
    Shy ME8 papers · 2024

    Department of Neurology, Carver College of Medicine, University of Iowa, Iowa City, IA, 52242, USA.

    Papers in Europe PMC
  8. 08
    Timmerman V8 papers · 2025

    Peripheral Neuropathy Research Group, University of Antwerp, Antwerp, Belgium vincent.timmerman@uantwerpen.be.

    Papers in Europe PMC
  9. 09
    Bertini A7 papers · 2025

    Unità di Malattie Neurodegenerative e Metaboliche Rare, Dipartimento di Neuroscienze Cliniche, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, 20133, Milan, Italy.

    Papers in Europe PMC
  10. 10
    Gentile L7 papers · 2025

    From the Fondazione IRCCS Istituto Neurologico Carlo Besta (C. Pisciotta, D.C., I.T., P.S., D.P.), Milan; Department of Neurosciences, Reproductive Sciences and Odontostomatology (L.S., F.M., S.T.), Federico II University of Naples; Department of Neuroscience, Biomedicine and Movement Sciences (G.M.F., T.C.), University of Verona; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics and Maternal Infantile Sciences (A.S., M.G.), University of Genoa; IRCCS Ospedale Policlinico San Martino (A.S., M.G.), Genoa; Division of Neuroscience and INSPE (S.C.P.), IRCCS Ospedale San Raffaele, Milan; A.O. di Parma (I.A., M.C.T.), U.O. Neurologia; Università Cattolica del Sacro Cuore (L.P.); Fondazione Policlinico Universitario A. Gemelli IRCCS (L.P., C. Pazzaglia), Rome; Neuroscience Centre (A.Q.), Magna Graecia University and Neuroimaging Research Unit, IBFM-CNR, Germaneto, Catanzaro; Department of Medical Sciences (P.V.), Magna Graecia University, Catanzaro; Unit of Neurology and Neuromuscular Diseases (L.G., M.R., A.M., G.V.), Department of Clinical and Experimental Medicine, University of Messina; and Department of Woman, Newborn and Child (F.P.), Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, and University of Milan, Italy.

    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

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.

"Autosomal dominant Charcot-Marie-Tooth disease type 2I" OR "CMT2I" OR "Charcot-Marie-Tooth disease, type 2I"

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Autosomal dominant Charcot-Marie-Tooth disease type 2I" OR "CMT2I" OR "Charcot-Marie-Tooth disease, type 2I" OR "Charcot-Marie-Tooth disease dominant intermediate D" OR "Charcot-Marie-Tooth disease type 2" OR "autosomal dominant intermediate Charcot-Marie-Tooth disease"

Recall-expansion terms: Charcot-Marie-Tooth disease dominant intermediate D, Charcot-Marie-Tooth disease type 2, autosomal dominant intermediate Charcot-Marie-Tooth disease

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

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 2026-07-27T06:43:47.687Z