ORPHA:352670
Autosomal dominant intermediate Charcot-Marie-Tooth disease type F
Also known as: CMTDIF
Clinical definition (Orphanet)
A rare motor and sensory disorder characterized by the typical CMT (slowly distal muscle atrophy and weakness in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) with nerve biopsy demonstrating demyelinating and axonal changes and nerve conduction velocities varying from the demyelinating to axonal range.
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.
Is anyone studying this?
12
12 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=183) is 38.
12 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).
11 in the last 10 years · high confidence · 32th percentile (publications denominator)
Is a treatment being tested?
0
trials for this specific condition
No interventional trial testing a treatment matched this specific condition name. 2 observational studies did — shown below because natural-history and cohort work can be an important step toward a trial.
Data as of 26 July 2026
0
no matched trials for autosomal dominant intermediate Charcot-Marie-Tooth disease, the broader category this belongs to either
Parent-category matching found a broader label but no interventional trials under it. How we count trials.
No matched interventional trials. This is true for 59.2% of diseases in the trials denominator (151 of 255). Here are the researchers publishing on it.
high confidence · 29.6th percentile (trials denominator)
Do we know what causes it?
Yes — we know a specific gene responsible (GNB4).
GenCC classification: Strong.
Who's working on it?
72
Distinct author names in 12 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.
- 01Battaloğlu E1 paper · 2022
Department of Molecular Biology and Genetics, Boğaziçi University, İstanbul, Turkey.
Papers in Europe PMC - 02Bilen S1 paper · 2023
Ankara City Hospital, Neurology Department - Ankara, Turkey.
Papers in Europe PMC - 03Brophy PJ1 paper · 2020
Centre for Discovery Brain Sciences, University of Edinburgh, Edinburgh, United Kingdom.
Papers in Europe PMC - 04Candayan A1 paper · 2022
Department of Molecular Biology and Genetics, Boğaziçi University, İstanbul, Turkey.
Papers in Europe PMC - 05Çavdarlı B1 paper · 2023
Ankara City Hospital, Department of Medical Genetics - Ankara, Turkey.
Papers in Europe PMC - 06Ceylan GG1 paper · 2023
Ankara City Hospital, Department of Medical Genetics - Ankara, Turkey.
Papers in Europe PMC - 07Choi BO1 paper · 2021
Departments of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 06351, Korea.
Papers in Europe PMC - 08Chung KW1 paper · 2021
Department of Biological Sciences, Kongju National University, Gongju 32588, Korea.
Papers in Europe PMC - 09De Nittis P1 paper · 2019
Center for Integrative Genomics, University of Lausanne, CH-1015 Lausanne, Switzerland.
Papers in Europe PMC - 10Eichel MA1 paper · 2020
Department of Neurogenetics, Max Planck Institute of Experimental Medicine, Göttingen, Germany.
Papers in Europe PMC
Recruiting interventional trials
Trials testing a treatment from the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
Broader category autosomal dominant intermediate Charcot-Marie-Tooth disease also has no matched interventional trial. See who's working on it above — people publishing on this disease are often the practical next contact when no trial is listed.
Observational and natural-history studies
2 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
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 2026-07-26This 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 below but are not added to the query string.
"Autosomal dominant intermediate Charcot-Marie-Tooth disease type F" OR "CMTDIF" OR "Charcot-Marie-Tooth disease dominant intermediate type F" OR "Charcot-Marie-Tooth disease, dominant Intermediate type F"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Autosomal dominant intermediate Charcot-Marie-Tooth disease type F" OR "CMTDIF" OR "Charcot-Marie-Tooth disease dominant intermediate type F" OR "Charcot-Marie-Tooth disease, dominant Intermediate type F" OR "GNB4"
Study-type breakdown: 0 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): OMIM:615185 UMLS:C4749463
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