ORPHA:139512
Neuropathy with hearing impairment
Publications
44
40.9th percentile
Trials
0
Interventional, condition-specific
Researchers
341
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
This syndrome is characterized by the association of sensorineural hearing impairment and peripheral .
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:0015351
- UMLS:C4509933
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.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
44 matched papers (30 in last 10 years) Source
- Phenotype characterisedNot found
No HPO disease–phenotype associations via Monarch for these Mondo IDs
- 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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Phenotypes (Monarch / HPO)
None returned for this Mondo ID. That often means “not linked under this ID,” not “no clinical features.”
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?
44
44 papers have ever been published on this condition (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=3967) is 59.
44 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).
30 in the last 10 years · high confidence · 40.9th percentile (publications denominator)
Phrase hits: 44 · MeSH hits: 0
Who's working on it?
341
Distinct author names in 44 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.
- 01Bochner BH3 papers · 2026
Gopa Iyer, Bernard H. Bochner, Guido Dalbagni, S. Machele Donat, Harry W. Herr, Irina Ostrovnaya, Hikmat Al-Ahmadie, Maria E. Arcila, Jamie C. Riches, Andreas Meier, Caitlin Bourque, Maha Shady, Helen Won, Brooke E. Kania, Mariel E. Boyd, Catharine K. Cipolla, Ashley M. Regazzi, Asia S. McCoy, Hebert Alberto Vargas, Michael F. Berger, David B. Solit, Jonathan E. Rosenberg, and Dean F. Bajorin, Memorial Sloan Kettering Cancer Center; Gopa Iyer, Bernard H. Bochner, Guido Dalbagni, S. Machele Donat, Harry W. Herr, Hikmat Al-Ahmadie, David B. Solit, and Dean F. Bajorin, Weill Cornell Medical College; Arjun V. Balar, William C. Huang, Samir S. Taneja, and Daniela Delbeau, New York University Langone Medical Center, New York, NY; and Matthew I. Milowsky, Michael Woods, Tracy L. Rose, and William Y. Kim, University of North Carolina Lineberger Comprehensive Cancer Center, Chapel Hill, NC.
Papers in Europe PMC - 02Donat SM3 papers · 2026
Gopa Iyer, Bernard H. Bochner, Guido Dalbagni, S. Machele Donat, Harry W. Herr, Irina Ostrovnaya, Hikmat Al-Ahmadie, Maria E. Arcila, Jamie C. Riches, Andreas Meier, Caitlin Bourque, Maha Shady, Helen Won, Brooke E. Kania, Mariel E. Boyd, Catharine K. Cipolla, Ashley M. Regazzi, Asia S. McCoy, Hebert Alberto Vargas, Michael F. Berger, David B. Solit, Jonathan E. Rosenberg, and Dean F. Bajorin, Memorial Sloan Kettering Cancer Center; Gopa Iyer, Bernard H. Bochner, Guido Dalbagni, S. Machele Donat, Harry W. Herr, Hikmat Al-Ahmadie, David B. Solit, and Dean F. Bajorin, Weill Cornell Medical College; Arjun V. Balar, William C. Huang, Samir S. Taneja, and Daniela Delbeau, New York University Langone Medical Center, New York, NY; and Matthew I. Milowsky, Michael Woods, Tracy L. Rose, and William Y. Kim, University of North Carolina Lineberger Comprehensive Cancer Center, Chapel Hill, NC.
Papers in Europe PMC - 03Iyer G3 papers · 2026
Gopa Iyer, Bernard H. Bochner, Guido Dalbagni, S. Machele Donat, Harry W. Herr, Irina Ostrovnaya, Hikmat Al-Ahmadie, Maria E. Arcila, Jamie C. Riches, Andreas Meier, Caitlin Bourque, Maha Shady, Helen Won, Brooke E. Kania, Mariel E. Boyd, Catharine K. Cipolla, Ashley M. Regazzi, Asia S. McCoy, Hebert Alberto Vargas, Michael F. Berger, David B. Solit, Jonathan E. Rosenberg, and Dean F. Bajorin, Memorial Sloan Kettering Cancer Center; Gopa Iyer, Bernard H. Bochner, Guido Dalbagni, S. Machele Donat, Harry W. Herr, Hikmat Al-Ahmadie, David B. Solit, and Dean F. Bajorin, Weill Cornell Medical College; Arjun V. Balar, William C. Huang, Samir S. Taneja, and Daniela Delbeau, New York University Langone Medical Center, New York, NY; and Matthew I. Milowsky, Michael Woods, Tracy L. Rose, and William Y. Kim, University of North Carolina Lineberger Comprehensive Cancer Center, Chapel Hill, NC.
Papers in Europe PMC - 04Ostrovnaya I3 papers · 2026
Gopa Iyer, Bernard H. Bochner, Guido Dalbagni, S. Machele Donat, Harry W. Herr, Irina Ostrovnaya, Hikmat Al-Ahmadie, Maria E. Arcila, Jamie C. Riches, Andreas Meier, Caitlin Bourque, Maha Shady, Helen Won, Brooke E. Kania, Mariel E. Boyd, Catharine K. Cipolla, Ashley M. Regazzi, Asia S. McCoy, Hebert Alberto Vargas, Michael F. Berger, David B. Solit, Jonathan E. Rosenberg, and Dean F. Bajorin, Memorial Sloan Kettering Cancer Center; Gopa Iyer, Bernard H. Bochner, Guido Dalbagni, S. Machele Donat, Harry W. Herr, Hikmat Al-Ahmadie, David B. Solit, and Dean F. Bajorin, Weill Cornell Medical College; Arjun V. Balar, William C. Huang, Samir S. Taneja, and Daniela Delbeau, New York University Langone Medical Center, New York, NY; and Matthew I. Milowsky, Michael Woods, Tracy L. Rose, and William Y. Kim, University of North Carolina Lineberger Comprehensive Cancer Center, Chapel Hill, NC.
Papers in Europe PMC - 05Rosenberg JE3 papers · 2026
Gopa Iyer, Bernard H. Bochner, Guido Dalbagni, S. Machele Donat, Harry W. Herr, Irina Ostrovnaya, Hikmat Al-Ahmadie, Maria E. Arcila, Jamie C. Riches, Andreas Meier, Caitlin Bourque, Maha Shady, Helen Won, Brooke E. Kania, Mariel E. Boyd, Catharine K. Cipolla, Ashley M. Regazzi, Asia S. McCoy, Hebert Alberto Vargas, Michael F. Berger, David B. Solit, Jonathan E. Rosenberg, and Dean F. Bajorin, Memorial Sloan Kettering Cancer Center; Gopa Iyer, Bernard H. Bochner, Guido Dalbagni, S. Machele Donat, Harry W. Herr, Hikmat Al-Ahmadie, David B. Solit, and Dean F. Bajorin, Weill Cornell Medical College; Arjun V. Balar, William C. Huang, Samir S. Taneja, and Daniela Delbeau, New York University Langone Medical Center, New York, NY; and Matthew I. Milowsky, Michael Woods, Tracy L. Rose, and William Y. Kim, University of North Carolina Lineberger Comprehensive Cancer Center, Chapel Hill, NC.
Papers in Europe PMC - 06Al-Ahmadie H2 papers · 2022
Gopa Iyer, Bernard H. Bochner, Guido Dalbagni, S. Machele Donat, Harry W. Herr, Irina Ostrovnaya, Hikmat Al-Ahmadie, Maria E. Arcila, Jamie C. Riches, Andreas Meier, Caitlin Bourque, Maha Shady, Helen Won, Brooke E. Kania, Mariel E. Boyd, Catharine K. Cipolla, Ashley M. Regazzi, Asia S. McCoy, Hebert Alberto Vargas, Michael F. Berger, David B. Solit, Jonathan E. Rosenberg, and Dean F. Bajorin, Memorial Sloan Kettering Cancer Center; Gopa Iyer, Bernard H. Bochner, Guido Dalbagni, S. Machele Donat, Harry W. Herr, Hikmat Al-Ahmadie, David B. Solit, and Dean F. Bajorin, Weill Cornell Medical College; Arjun V. Balar, William C. Huang, Samir S. Taneja, and Daniela Delbeau, New York University Langone Medical Center, New York, NY; and Matthew I. Milowsky, Michael Woods, Tracy L. Rose, and William Y. Kim, University of North Carolina Lineberger Comprehensive Cancer Center, Chapel Hill, NC.
Papers in Europe PMC - 07Asahina M2 papers · 1998
Department of Neurology, School of Medicine, Chiba University, Japan.
Papers in Europe PMC - 08Bajorin DF2 papers · 2022
Gopa Iyer, Bernard H. Bochner, Guido Dalbagni, S. Machele Donat, Harry W. Herr, Irina Ostrovnaya, Hikmat Al-Ahmadie, Maria E. Arcila, Jamie C. Riches, Andreas Meier, Caitlin Bourque, Maha Shady, Helen Won, Brooke E. Kania, Mariel E. Boyd, Catharine K. Cipolla, Ashley M. Regazzi, Asia S. McCoy, Hebert Alberto Vargas, Michael F. Berger, David B. Solit, Jonathan E. Rosenberg, and Dean F. Bajorin, Memorial Sloan Kettering Cancer Center; Gopa Iyer, Bernard H. Bochner, Guido Dalbagni, S. Machele Donat, Harry W. Herr, Hikmat Al-Ahmadie, David B. Solit, and Dean F. Bajorin, Weill Cornell Medical College; Arjun V. Balar, William C. Huang, Samir S. Taneja, and Daniela Delbeau, New York University Langone Medical Center, New York, NY; and Matthew I. Milowsky, Michael Woods, Tracy L. Rose, and William Y. Kim, University of North Carolina Lineberger Comprehensive Cancer Center, Chapel Hill, NC.
Papers in Europe PMC - 09Balar AV2 papers · 2022
Gopa Iyer, Bernard H. Bochner, Guido Dalbagni, S. Machele Donat, Harry W. Herr, Irina Ostrovnaya, Hikmat Al-Ahmadie, Maria E. Arcila, Jamie C. Riches, Andreas Meier, Caitlin Bourque, Maha Shady, Helen Won, Brooke E. Kania, Mariel E. Boyd, Catharine K. Cipolla, Ashley M. Regazzi, Asia S. McCoy, Hebert Alberto Vargas, Michael F. Berger, David B. Solit, Jonathan E. Rosenberg, and Dean F. Bajorin, Memorial Sloan Kettering Cancer Center; Gopa Iyer, Bernard H. Bochner, Guido Dalbagni, S. Machele Donat, Harry W. Herr, Hikmat Al-Ahmadie, David B. Solit, and Dean F. Bajorin, Weill Cornell Medical College; Arjun V. Balar, William C. Huang, Samir S. Taneja, and Daniela Delbeau, New York University Langone Medical Center, New York, NY; and Matthew I. Milowsky, Michael Woods, Tracy L. Rose, and William Y. Kim, University of North Carolina Lineberger Comprehensive Cancer Center, Chapel Hill, NC.
Papers in Europe PMC - 10
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.
high 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 16 · after dedupe 16 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 16 · 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 (16)
- isrctn·ISRCTN24233750·Recruiting·Evaluating the effect of automated insulin pumps on pain levels in people with diabetes-related nerve damage
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN10049430·No longer recruiting·The impact of adverse childhood experiences on sensation and pain in people living with multiple long-term health conditions and chronic pain
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN18110844·Stopped·Brain mechanisms of acceptance and commitment therapy for nerve pain
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN46164906·No longer recruiting·Exploring the feasibility and effects of technological visual training as a potential rehabilitation tool in Parkinson’s
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN14292082·Suspended·Investigating the genetic, environmental and nutritional factors associated with Tanzanian endemic optic neuropathy (TEON)
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN56898625·No longer recruiting·Automated insulin Delivery Amongst Pregnant women with Type 1 diabetes
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN97125464·No longer recruiting·The SCOPE 2 Trial: Study of chemoradiotherapy in oesophageal cancer including PET response and dose escalation
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN83316328·No longer recruiting·Closed-loop in pregnancy day and night home feasibility study (CLIP 24/7)
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN10639376·No longer recruiting·A trial looking at whether stereotactic radiotherapy together with chemotherapy is a useful treatment for people with locally advanced bile duct cancer (ABC-07)
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN15070952·No longer recruiting·Evaluating the potential benefit of adjuvant chemotherapy for small bowel adenocarcinoma
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN11496419·No longer recruiting·An open-label, single-centre, randomised, 2-period cross-over study to assess the efficacy and safety of a novel automated overnight closed-loop glucose control system on day 1 of continuous glucose monitoring sensor insertion in comparison to day 3 to 4 after sensor insertion in children and adolescents with type 1 diabetes
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN24960600·No longer recruiting·Multicentre closed-loop home study in young people with type 1 diabetes
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN85966108·No longer recruiting·Phase I study of S 78454 in combination with a fixed dose infusion of cisplatin in patients with advanced solid tumours
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN96922360·No longer recruiting·Oral administration of S 78454 in combination with cisplatin in patients with advanced non-keratinising nasopharyngeal carcinoma
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN14842077·No longer recruiting·A patient decision aid to improve decision quality and health outcome in type 2 diabetic patients
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN46020948·No longer recruiting·A randomised phase II/III trial of peri-operative chemotherapy with or without bevacizumab in operable adenocarcinoma of the stomach and gastro-oesophageal junction
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 Neuropathy with hearing impairment — 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.
"Neuropathy with hearing impairment"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Neuropathy with hearing impairment"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
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
Ingested 2026-07-27T07:39:02.602Z