RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:521414

Autosomal dominant Charcot-Marie-Tooth disease type 2DD

low confidenceDisorder

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

Publications

4,118

Trials

0

Interventional, condition-specific

Researchers

146

Distinct authors in sample

Gene link

ATP1A1

Strong

Readiness

4/6

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.”

4/6 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

    4,118 matched papers (3,090 in last 10 years) Source

  3. Phenotype characterisedPresent

    10 HPO annotations (e.g. Pes cavus; Muscle spasm; Areflexia) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  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)

10

Associated phenotypes · MONDO:0054833

  • Pes cavus
  • Muscle spasm
  • Areflexia
  • Sensorimotor neuropathy
  • Foot dorsiflexor weakness

Showing 5 of 10 — open Monarch for the full list.

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?

4,118

4,118 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

4,118 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

3,090 in the last 10 years · low confidence

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 on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present). 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

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 Autosomal dominant Charcot-Marie-Tooth disease type 2DD — check Associations / patient organisations on that page.

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") OR ("ATP1A1" OR "ATP1A1 syndrome" OR "ATP1A1-related")

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"

Study-type breakdown: 0 interventional · 0 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

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
  • Publication count (4118) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T18:02:54.570Z