ORPHA:217055
Autosomal recessive intermediate Charcot-Marie-Tooth disease type A
Also known as: RI-CMT type A
Publications
1,144
Trials
0
Interventional, condition-specific
Researchers
256
Distinct authors in sample
Gene link
GDAP1
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A subtype of intermediate Charcot-Marie-Tooth (CMT) disease characterized by severe, early childhood-onset CMT with prominent pes equinovarus deformity and impairment of hand muscles. Nerve conduction velocities usually range between 25-35 m/s and both axonal and demyelinating changes are observed on peripheral nerve pathology.
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0012014
- MeSH:C564256
- OMIM:608340
- UMLS:C1842197
Additional Mondo synonyms (7)
CMTRIA · Charcot-Marie-Tooth disease caused by mutation in GDAP1 · Charcot-Marie-Tooth disease recessive intermediate type A · Charcot-Marie-Tooth disease, recessive Intermediate type a · GDAP1 Charcot-Marie-Tooth disease · RI-CMTA · autosomal recessive intermediate Charcot-Marie-Tooth disease type A
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 matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Strong — GDAP1
- LiteraturePresent
1,144 matched papers (721 in last 10 years) Source
- Phenotype characterisedPresent
102 HPO annotations (e.g. Decreased motor nerve conduction velocity; Pes cavus; Proximal lower limb muscle weakness) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
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 (GDAP1).
GenCC classification: Strong.
Phenotypes (Monarch / HPO)
102
Associated phenotypes · MONDO:0012014
- Decreased motor nerve conduction velocity
- Pes cavus
- Proximal lower limb muscle weakness
- Neuropathic spinal arthropathy
- Vocal cord paresis
Showing 5 of 102 — 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?
1,144
1,144 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.
1,144 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).
721 in the last 10 years · low confidence
Phrase hits: 31 · MeSH hits: 1
Who's working on it?
256
Distinct author names in 31 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.
- 01Tomaselli PJ3 papers · 2026
Department of Neurosciences and Behavior Sciences, Ribeirão Preto Medical School, University of São Paulo, Brazil.
Papers in Europe PMC - 02Antonellis A2 papers · 2015
Cellular and Molecular Biology Program, University of Michigan Medical School, Ann Arbor, MI 48109, USA; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI 48109, USA; Department of Neurology, University of Michigan Medical School, Ann Arbor, MI 48109, USA.
Papers in Europe PMC - 03Chung KW2 papers · 2021
Department of Biological Sciences, Kongju National University, Gongju 32588, Korea.
Papers in Europe PMC - 04Del Arco A2 papers · 2019
Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 28029 Madrid, Spain. araceli.arco@uclm.es.
Papers in Europe PMC - 05González-Sánchez P2 papers · 2019
Departamento de Biología Molecular, Centro de Biología Molecular Severo Ochoa, Consejo Superior de Investigaciones Científicas-Universidad Autónoma de Madrid (CSIC-UAM), 28049 Madrid, Spain. pgsanchez@cbm.csic.es.
Papers in Europe PMC - 06Lee KS2 papers · 2021
Department of Physics Education, Kongju National University, Gongju 32588, Korea.
Papers in Europe PMC - 07Okamoto Y2 papers · 2022
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Papers in Europe PMC - 08Palau F2 papers · 2019
Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 28029 Madrid, Spain. fpalau@sjdhospitalbarcelona.org.
Papers in Europe PMC - 09Parman Y2 papers · 2022
Department of Neurology, Istanbul University, Istanbul Medical Faculty, Istanbul 34093, Turkey.
Papers in Europe PMC - 10Pla-Martín D2 papers · 2021
Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, 28029, Spain.
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).
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.
Broader category autosomal recessive intermediate Charcot-Marie-Tooth disease also has no matched interventional trial. See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Broader category: autosomal recessive intermediate Charcot-Marie-Tooth disease
0
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Parent-category matching found a broader label but no interventional trials under it. How we count trials.
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 recessive intermediate Charcot-Marie-Tooth disease type A — check Associations / patient organisations on that page.
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 on the overview but are not added to the query string.
("Autosomal recessive intermediate Charcot-Marie-Tooth disease type A" OR "RI-CMT type A" OR "CMTRIA" OR "Charcot-Marie-Tooth disease recessive intermediate type A" OR "Charcot-Marie-Tooth disease, recessive Intermediate type a" OR "GDAP1 Charcot-Marie-Tooth disease" OR "RI-CMTA") OR (MESH:"Charcot-Marie-Tooth Disease, Recessive Intermediate A") OR ("GDAP1" OR "GDAP1 syndrome" OR "GDAP1-related")MeSH descriptor terms unioned into the query: Charcot-Marie-Tooth Disease, Recessive Intermediate A
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Autosomal recessive intermediate Charcot-Marie-Tooth disease type A" OR "RI-CMT type A" OR "CMTRIA" OR "Charcot-Marie-Tooth disease recessive intermediate type A" OR "Charcot-Marie-Tooth disease, recessive Intermediate type a" OR "GDAP1 Charcot-Marie-Tooth disease" OR "RI-CMTA" OR "Charcot-Marie-Tooth Disease, Recessive Intermediate A"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"autosomal recessive intermediate Charcot-Marie-Tooth disease"
Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: Charcot-Marie-Tooth disease caused by mutation in GDAP1
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 (1144) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T09:44:37.965Z