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ORPHA:521414

Autosomal dominant Charcot-Marie-Tooth disease type 2DD

high confidenceDisorder

Also known as: ATP1A1-related CMT2 · ATP1A1-related autosomal dominant Charcot-Marie-Tooth disease type 2 · CMT2DD

Publications

16

33.9th percentile

Trials

0

Interventional, condition-specific

Researchers

146

Distinct authors in sample

Gene link

ATP1A1

Strong

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare axonal motor and sensory characterized by predominantly distal weakness and muscle atrophy, decreased or absent tendon reflexes, and reduced vibratory sensation in the lower and upper extremities. Pes cavus develops in many patients. Additional symptoms like , tremor, or swallowing difficulties have been reported. Patients usually remain ambulatory even late in the disease. Age of onset ranges from childhood to adulthood, with earlier onset tending to be associated with a more severe disease .

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.

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 — ATP1A1

  2. LiteraturePresent

    16 matched papers (16 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 (ATP1A1).

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?

16

16 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.

16 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).

16 in the last 10 years · high confidence · 33.9th percentile (publications denominator)

Phrase hits: 16 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

146

Distinct author names in 16 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
    Reilly MM2 papers · 2024

    Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square institute of Neurology and National Hospital for Neurology and Neurosurgery.

    Papers in Europe PMC
  2. 02
    Alfieri P1 paper · 2020

    Unit of Child Neuropsychiatry, Department of Neurosciences, IRCCS Bambino Gesù Children's Hospital, Rome, Italy.

    Papers in Europe PMC
  3. 03
    Altmüller J1 paper · 2018

    Cologne Center for Genomics, University of Cologne, Cologne 50931, Germany.

    Papers in Europe PMC
  4. 04
    Argente-Escrig H1 paper · 2022

    Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Valencia, España.

    Papers in Europe PMC
  5. 05
    Artigas P1 paper · 2025

    Department of Cell Physiology and Molecular Biophysics, Center for Membrane Protein Research, Texas Tech University Health Sciences Center, Lubbock.

    Papers in Europe PMC
  6. 06
    Bandulik S1 paper · 2018

    Medical Cell Biology, University of Regensburg, Regensburg 93053, Germany.

    Papers in Europe PMC
  7. 07
    Baumann M1 paper · 2018

    Department of Pediatrics I, Medical University of Innsbruck, Innsbruck 6020, Austria.

    Papers in Europe PMC
  8. 08
    Beck BB1 paper · 2018

    Institute of Human Genetics, University of Cologne, Cologne 50931, Germany; Center for Molecular Medicine Cologne, Cologne 50931, Germany; Center for Rare and hereditary Kidney Disease, Cologne 50931, Germany.

    Papers in Europe PMC
  9. 09
    Bellacchio E1 paper · 2020

    Genetics and Rare Diseases Research Division, IRCCS Bambino Gesù Children's Hospital, Rome, Italy.

    Papers in Europe PMC
  10. 10
    Benatar M1 paper · 2023

    Department of Neurology, University of Miami Miller School of Medicine, Miami, FL, United States.

    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 2DD" OR "ATP1A1-related CMT2" OR "ATP1A1-related autosomal dominant Charcot-Marie-Tooth disease type 2" OR "CMT2DD"

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 2DD" OR "ATP1A1-related CMT2" OR "ATP1A1-related autosomal dominant Charcot-Marie-Tooth disease type 2" OR "CMT2DD" OR "ATP1A1" OR "Charcot-Marie-Tooth disease type 2" OR "autosomal genetic disease"

Recall-expansion terms: ATP1A1, Charcot-Marie-Tooth disease type 2, autosomal genetic 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: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion

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 2026-07-27T18:02:54.570Z