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ORPHA:466775

Autosomal recessive Charcot-Marie-Tooth disease type 2X

high confidenceDisorder

Also known as: Autosomal recessive Charcot-Marie-Tooth disease type 2 due to SPG11 mutation · CMT2X · ARCMT2X

Publications

25

37.8th percentile

Trials

0

Interventional, condition-specific

Researchers

137

Distinct authors in sample

Gene link

SPG11

Strong

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare axonal motor and sensory characterized by childhood to adult onset of slowly , sometimes asymmetric distal muscle weakness and atrophy, as well as sensory impairment, predominantly of the lower limbs. Additional common features include pes cavus, kyphoscoliosis, ankle contractures, tremor, or urogenital dysfunction. Fasciculations and proximal involvement may be seen in some cases. Patients usually remain ambulatory.

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 (4)

Charcot-Marie-Tooth disease caused by mutation in SPG11 · Charcot-Marie-Tooth disease, axonal, type 2x · SPG11 Charcot-Marie-Tooth disease · autosomal recessive Charcot-Marie-Tooth disease type 2 due to SPG11 mutation

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.

  1. Gene identifiedPresent

    Strong — SPG11

  2. LiteraturePresent

    25 matched papers (21 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?

Yes — we know a specific gene responsible (SPG11).

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?

25

25 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.

25 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).

21 in the last 10 years · high confidence · 37.8th percentile (publications denominator)

Phrase hits: 25 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

137

Distinct author names in 25 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
    Kirby J2 papers · 2020

    Sheffield Institute for Translational Neuroscience (SITraN), Department of Neuroscience, University of Sheffield, Sheffield, UK, j.kirby@sheffield.ac.uk.

    Papers in Europe PMC
  2. 02
    Li H2 papers · 2023

    BGI-Anhui Clinical Laboratory, BGI-Shenzhen, 236000, Fuyang, China.

    Papers in Europe PMC
  3. 03
    Liu Y2 papers · 2023

    Department of Genetics, Jiangxi Maternal and Child Health Hospital, 330006, Nanchang, China.

    Papers in Europe PMC
  4. 04
    Xicoy H2 papers · 2019

    Neurodegenerative Diseases Research Group, Vall d'Hebron Research Institute (VHIR)-Center for Networked Biomedical Research on Neurodegenerative Diseases (CIBERNED), 08035 Barcelona, Spain.

    Papers in Europe PMC
  5. 05
    Alghazwani Y1 paper · 2022

    Department of Pharmacology, College of Pharmacy, King Khalid University, Abha, Saudi Arabia.

    Papers in Europe PMC
  6. 06
    Alqahtani AM1 paper · 2022

    Department of Pharmacology, College of Pharmacy, King Khalid University, Abha, Saudi Arabia.

    Papers in Europe PMC
  7. 07
    Alqahtani T1 paper · 2022

    Department of Pharmacology, College of Pharmacy, King Khalid University, Abha, Saudi Arabia.

    Papers in Europe PMC
  8. 08
    Alshehri SA1 paper · 2022

    Department of Pharmacognosy, College of Pharmacy, King Khalid University, Abha, Saudi Arabia.

    Papers in Europe PMC
  9. 09
    Alsultan AA1 paper · 2016

    Sheffield Institute for Translational Neuroscience (SITraN), Department of Neuroscience, University of Sheffield, Sheffield, UK, j.kirby@sheffield.ac.uk.

    Papers in Europe PMC
  10. 10
    Anderson DM1 paper · 2016

    Department of Molecular Biology, University of Texas Southwestern Medical Center, Dallas, TX 75390; Hamon Center for Regenerative Science and Medicine, University of Texas Southwestern Medical Center, Dallas, TX 75390; Senator Paul D. Wellstone Muscular Dystrophy Cooperative Research Center, University of Texas Southwestern Medical Center, Dallas, TX 75390;

    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. 3 observational studies 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

3 observational studies match 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 recessive Charcot-Marie-Tooth disease type 2X" OR "Autosomal recessive Charcot-Marie-Tooth disease type 2 due to SPG11 mutation" OR "CMT2X" OR "ARCMT2X" OR "Charcot-Marie-Tooth disease, axonal, type 2x" OR "SPG11 Charcot-Marie-Tooth disease"

Run this search on Europe PMC

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

"Autosomal recessive Charcot-Marie-Tooth disease type 2X" OR "Autosomal recessive Charcot-Marie-Tooth disease type 2 due to SPG11 mutation" OR "CMT2X" OR "ARCMT2X" OR "Charcot-Marie-Tooth disease, axonal, type 2x" OR "SPG11 Charcot-Marie-Tooth disease" OR "SPG11" OR "Charcot-Marie-Tooth disease type 2"

Recall-expansion terms: SPG11, Charcot-Marie-Tooth disease type 2

Study-type breakdown: 0 interventional · 3 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 SPG11

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 2026-07-27T16:59:48.370Z