ORPHA:140481
Autosomal dominant slowed nerve conduction velocity
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
637
Trials
0
Interventional, condition-specific
Researchers
41
Distinct authors in sample
Gene link
ARHGEF10
Moderate
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare demyelinating motor and sensory characterized by slowed nerve conduction velocities, in the absence of clinically apparent neurological deficits, gait abnormalities or muscular atrophy, associated with a germline mutation in the ARGHEF10 gene.
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:0011998
- MeSH:C564269
- OMIM:608236
- UMLS:C1842357
Additional Mondo synonyms (2)
autosomal dominant slowed nerve conduction velocity · slowed nerve conduction velocity, AD
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
Moderate — ARHGEF10
- LiteraturePresent
637 matched papers (449 in last 10 years) Source
- Phenotype characterisedPresent
3 HPO annotations (e.g. Onion bulb formation; Decreased nerve conduction velocity; Peripheral demyelination) 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?
Probably — there is moderate evidence for ARHGEF10.
GenCC classification: Moderate.
Phenotypes (Monarch / HPO)
3
Associated phenotypes · MONDO:0011998
- Onion bulb formation
- Decreased nerve conduction velocity
- Peripheral demyelination
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?
637
637 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.
637 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).
449 in the last 10 years · low confidence
Phrase hits: 3 · MeSH hits: 0
Who's working on it?
41
Distinct author names in 3 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.
- 01Akyuz K1 paper · 2014
Department of Molecular Biology and Genetics, Bogazici University, Istanbul, Turkey.
Papers in Europe PMC - 02Atik MM1 paper · 2014
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Papers in Europe PMC - 03Baldo C1 paper · 2021
UOC Laboratorio di Genetica Umana, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy.
Papers in Europe PMC - 04Battaloglu E1 paper · 2014
Department of Molecular Biology and Genetics, Bogazici University, Istanbul, Turkey.
Papers in Europe PMC - 05Bayraktar S1 paper · 2014
Department of Opthalmology, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.
Papers in Europe PMC - 06Beck CR1 paper · 2014
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Papers in Europe PMC - 07Boone PM1 paper · 2014
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Papers in Europe PMC - 08Briuglia S1 paper · 2021
Department of Biomedical, Dental, Morphological and Functional Imaging Sciences, University of Messina, 98100 Messina, Italy.
Papers in Europe PMC - 09Canevini MP1 paper · 2021
Child Neuropsychiatry Unit-Epilepsy Center, Department of Health Sciences, ASST Santi Paolo e Carlo, San Paolo Hospital, Università Degli Studi di Milano, 20142 Milan, Italy.
Papers in Europe PMC - 10Cantone R1 paper · 2021
Medical Genetics Unit, Città della Salute e della Scienza University Hospital, 10126 Turin, Italy.
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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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 60 · after dedupe 57 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 57 · 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).
Uncertain / not reviewed (57)
- ctis·2025-523650-14-00·Authorised·functional imaging of digital osteoarthritis and rheumatoid arthritis using 99mTc-NTP15-5 in nuclear medicine : phase II clinical study
skipped — LLM skipped (--skip-llm)
- ctis·2025-523390-42-00·Authorised·A Phase 2, Multicenter, Randomized, Double-blind, Placebocontrolled Study, to Evaluate Efficacy, Safety, Tolerability, and Pharmacodynamics of Intrathecally Administered Mivelsiran in Adult Participants with Early-Stage Down Syndrome-Associated Alzheimer’s Disease (DS-AD)
skipped — LLM skipped (--skip-llm)
- ctis·2026-525162-21-00·Authorised·A Phase 2a, multi centric, open label clinical study to explore the safety and tolerability, the pharmacokinetics and pharmacodynamics profile and first signs of efficacy of PTI5803 administered as adjunctive therapy with a 3-dose escalation regimen in patients >= 14 years of age with drug-resistant seizures associated to focal cortical dysplasia, followed by an optional open-label extension study.
skipped — LLM skipped (--skip-llm)
- ctis·2023-505575-69-01·Authorised·Fight Osteosarcoma Through European Research evolving study platform from diagnosis to relapse (FOSTER evolving study platform)
skipped — LLM skipped (--skip-llm)
- ctis·2026-525566-21-00·Authorised, ongoing·A phase IIa, single-arm, single-center, open label, proof-of-concept trial evaluating increased frequency dosing of VCN-01 (zabilugene almadenorepvec) in combination with nab-Paclitaxel/Gemcitabine (GnP) in Patients with Newly-Diagnosed Metastatic Pancreatic Cancer (VIRAGE2)
skipped — LLM skipped (--skip-llm)
- ctis·2025-524481-15-00·Authorised·A Phase IIb, Non-Profit, Open-label Trial for the Intrathecal Administration of AAV9/AP4M1 for Hereditary Spastic Paraplegia Type 50 (SPG50).
skipped — LLM skipped (--skip-llm)
- ctis·2025-524625-41-00·Authorised, recruiting·Effects of bempedoic acid/ezetimibe/high-intensity statin on plaque regression and stabilisation of coronary atherosclerosis among patients without cardiovascular events
skipped — LLM skipped (--skip-llm)
- ctis·2025-522643-18-00·Authorised, recruiting·A Phase 3, Randomized, Placebo-Controlled Study of Adjuvant Intismeran Autogene Plus Subcutaneous Pembrolizumab and Berahyaluronidase Alfa (MK-3475A) or Intismeran Autogene Monotherapy Versus Placebo in Participants With Completely Resected High-Risk Stage I Non-Small Cell Lung Cancer (INTerpath-014)
skipped — LLM skipped (--skip-llm)
- ctis·2025-523570-17-00·Authorised·A randomized, Phase 2a, double-blinded, biomarker-driven, placebo-controlled study to assess safety, CNS penetration, and target engagement of Mirivadelgat in Parkinson’s disease – SLEIPNIR-2, a sub-protocol in the SLEIPNIR platform trial
skipped — LLM skipped (--skip-llm)
- ctis·2025-523464-20-00·Expired·A Phase 2b, Multicenter, Randomized, Double-blind, Placebo-controlled, Dose-ranging Study to Evaluate the Efficacy and Safety of JNJ-95597528 for the Treatment of Adult Participants with Moderate to Severe Atopic Dermatitis
skipped — LLM skipped (--skip-llm)
- ctis·2025-524200-29-00·Authorised, recruiting·A prospective, multinational, multicenter, randomized, sequential, double-blind, placebo-controlled, phase 2a clinical study to assess the safety and pharmacokinetics (PK) of OMN6 in hospital-acquired bacterial pneumonia (HABP) or ventilated-associated bacterial pneumonia (VABP) caused by Acinetobacter baumannii complex (ABC).
skipped — LLM skipped (--skip-llm)
- ctis·2025-522486-29-01·Authorised·Impact of Oral Semaglutide on Platelet Reactivity in Patients with Diabetes Mellitus or Overweight with High Risk or established Cardiovascular Disease: the SEMA-PLAT Study
skipped — LLM skipped (--skip-llm)
- ctis·2025-522965-31-00·Authorised·C6231002 - A PHASE 2B, RANDOMIZED, DOUBLE-BLIND, PLACEBO-CONTROLLED, DOSE RANGING STUDY TO EVALUATE THE EFFICACY AND SAFETY OF PF 08049820 IN ADULT PARTICIPANTS WITH MODERATE TO SEVERE ATOPIC DERMATITIS
skipped — LLM skipped (--skip-llm)
- ctis·2025-524298-18-00·11·A phase 2b, single-center, randomized, double-blind, placebo-controlled study to assess the efficacy and safety of oral Ladarixin in association with a single low dose of Antithymocyte Globulin in patients with new-onset autoimmune type 1 diabetes.
skipped — LLM skipped (--skip-llm)
- ctis·2025-523076-23-00·Authorised·Randomized, Double-blind, Placebo-controlled, Proof-of-concept Phase II Trial Investigating the Effect of Valproic Acid in Women with Adenomyosis.
skipped — LLM skipped (--skip-llm)
- ctis·2025-523284-37-00·Authorised, ongoing·CHARACTERIZATION OF ASTROCYTE REACTIVITY WITH [18F]F-DED PET IN NEURODEGENERATIVE DISEASES
skipped — LLM skipped (--skip-llm)
- ctis·2025-521779-30-00·Authorised·A Phase 2, Randomized, Masked, Placebo-Controlled Study of Subcutaneously Administered ADX-038 in Participants With Geographic Atrophy (GA) Secondary to Age-Related Macular Degeneration (AMD)
skipped — LLM skipped (--skip-llm)
- ctis·2025-523367-38-00·Authorised, ongoing·Effect of nepafenac/dexamethasone fixed dose combination vs. its individual components (nepafenac and dexamethasone monotherapies) on postoperative inflammation after cataract surgery: a randomized, multicentre, blinded-assessor, parallel-group clinical study – NE.DE.F. STUDY
skipped — LLM skipped (--skip-llm)
- ctis·2025-521666-10-01·Authorised, ongoing·PirtobrUtinib as frontline Therapy for elderly unfit/frail patient with MAntle cell lymphoma: a phase II study of the Fondazione Italiana Linfomi (FIL)
skipped — LLM skipped (--skip-llm)
- ctis·2025-523306-33-00·Authorised, ongoing·Obinutuzumab Treatment in Frequently Relapsing and Rituximab-Dependent Idiopathic Nephrotic Syndrome in Adults: a fully academic, single-arm, open, prospective, intervention trial
skipped — LLM skipped (--skip-llm)
- ctis·2025-524598-17-00·Authorised, ongoing·A randomized, placebo controlled, observer-blind, phase IV pragmatic trial to evaluate the effect of Recombinant Zoster Vaccine (Shingrix®) on incident dementia diagnosis in an older adult population aged ≥76 years in Finland
skipped — LLM skipped (--skip-llm)
- ctis·2024-519811-32-00·Authorised·An interventional, Open-label Study to Evaluate the effect of lebrikizumab on eczema and Skin Barrier Function parameters in lesional and non-lesional skin in Adults and Adolescents with Moderate to Severe Atopic Dermatitis
skipped — LLM skipped (--skip-llm)
- ctis·2025-523375-29-00·Authorised, ongoing·Sodium-glucose cotransporter-2 inhibitors to stABiLizE coronary atherosclerosis pro-gression after acute Myocardial Infarction in women and men with diabetes mellitus
skipped — LLM skipped (--skip-llm)
- ctis·2025-521966-91-00·Authorised, ongoing·An Open-label, Randomized, Multi-Center Study to Evaluate the Efficacy and Safety of Induction Treatment with Melphalan/HDS Followed by Consolidation Treatment with Eribulin or Vinorelbine or Capecitabine Versus Eribulin or Vinorelbine or Capecitabine Alone in Patients with Metastatic Breast Cancer with Liver Dominant Disease
skipped — LLM skipped (--skip-llm)
- ctis·2025-521805-41-00·Authorised, ongoing·Patient-Centered Study of Trastuzumab Deruxtecan (T-DXd) in First-Line HER2-POsitive Metastatic Breast Cancer with Proactive Toxicity ManagementReflecting Real-World Clinical Practice / TOP-REAL Trial
skipped — LLM skipped (--skip-llm)
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 slowed nerve conduction velocity — 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 dominant slowed nerve conduction velocity" OR "slowed nerve conduction velocity, AD") OR (MESH:"Slowed Nerve Conduction Velocity, Autosomal Dominant") OR ("ARHGEF10" OR "ARHGEF10 syndrome" OR "ARHGEF10-related")MeSH descriptor terms unioned into the query: Slowed Nerve Conduction Velocity, Autosomal Dominant
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Autosomal dominant slowed nerve conduction velocity" OR "slowed nerve conduction velocity, AD" OR "Slowed Nerve Conduction Velocity, Autosomal Dominant"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, mesh; 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 (637) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T07:41:44.291Z